Edwin H Kolodny

Biosketch / Results /

Edwin H Kolodny, M.D.

Professor Emeritus of Neurology; Research Professor; Dir Neurogenetics
Department of Neurology (Neurology)
NYU Neurology Associates

Clinical Addresses

403 EAST 34TH STREET, 2ND FL.
RIVERGATE BUILDING
NEW YORK, NY 10016
Hours: Mon. 9 - 5; Tue. 9 - 5; Wed. 9 - 5; Thu. 9 - 5; Fri. 9 - 5
Handicap Access: yes
Phone: 212-263-8344
Fax: 212-263-8310

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Medical Specialties

Neurology

Medical Expertise

Genetics & Hereditary Disease, Genetic Diseases of the Nervous System

Dr. Kolodny is a member of the Examination Subcommittee of the American Board of Psychiatry and Neurology.

Languages

French, German, Hebrew, Yiddish

Insurance

AFFINITY, AFFINITY EXCHANGE- ESSENTIAL, HIP HMO, HealthNet, Medicare, UHC COMMUNITY & STATE PLAN

Insurance Disclaimer: Insurance listed above may not be accepted at all office locations. Please confirm prior to each visit. The information presented here may not be complete or may have changed.

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Board Certification

1971 — Ab Psychiatry & Neurology - Neurology
1984 — Ab Medical Genetics - Medical Genetics
1984 — Ab Medical Genetics - Clinical Genetics
1987 — Ab Colon & Rectal Surgery - Colon & Rectal Surgery

Education

1957-1962 — New York University School of Medicine, Medical Education
1962-1963 — NYU Medical Center (Medicine), Internship
1962-1963 — Bellevue Hospital Center (Medicine), Internship
1963-1964 — NYU Medical Center, Residency Training
1963-1964 — Bellevue Hospital Center (Medicine), Residency Training
1963-1967 — Massachusetts General Hospital (Neurology), Residency Training
1967-1970 — National Institute of Mental Health (Neurology), Clinical Fellowships

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Research Summary

A major focus of the Neurogenetics Laboratory is the study of the biochemical and molecular causes of inherited diseases and more effective means for their treatment. In the past few years, our laboratory has characterized a variety of novel mutations responsible for the GM2-gangliosidoses and globoid cell leukodystrophy. In vitro mutagenesis and transfection into COS cells allow us to clarify genotype: phenotype relationships in these and related lysosomal storage diseases and in animal models of these diseases. We are also involved in collaborations to investigate the gene loci for mucolipidosis IV and familial spastic paraparesis.

Gene therapy is being developed in our laboratory as a tool in the treatment of malignant brain tumor, Parkinson's disease and the lysosomal storage diseases. Glioma cells transduced with recombinant retroviruses expressing cytosine deaminase become sensitive to the prodrug 5-fluorocytosine and this effect is enhanced by interferons. Using this same suicide gene approach in combination with a vector, expressing both cytosine deaminase and thymidine kinase has enabled us to significantly prolong the survival of rats with rapidly growing intracerebral glioma. We also participate in a consortium devoted to the use of another form of gene therapy, bone marrow transplantation, to successfully treat globoid cell leukodystrophy.

Our work in lysosomal storage diseases has also led us to discover molecular mimicry between antiglycolipid antibodies found in various autoimmune diseases such as multiple sclerosis and certain proteins including p24 and gp120 of the HIV virus and various brain cell membrane components. The gene for one such protein, GCP, has been cloned and its structural relationship to the galactolipids is being investigated.

Research Interests

Genetics of Inherited Diseases of the Nervous SystemNeurogenetics, Gene Therapy and Molecular Mimicry

Research Keywords

gene therapy, genotype phenotype correlations, lysosomal enzymes, neurodegenerative disease, neurogenetics

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All data from NYU Health Sciences Library Faculty Bibliography — -

Contact:
http://hsl.med.nyu.edu/faculty-bibliography-search

GM1-gangliosidosis in American black bears: Clinical, pathological, biochemical and molecular genetic characterization
Muthupalani, Sureshkumar; Torres, Paola A; Wang, Betty C; Zeng, Bai Jin; Eaton, Samuel; Erdelyi, Ildiko; Ducore, Rebecca; Maganti, Rajanikarath; Keating, John; Perry, Bain J; Tseng, Florina S; Waliszewski, Nicole; Pokras, Mark; Causey, Robert; Seger, Rita; March, Philip; Tidwell, Amy; Pfannl, Rolf; Seyfried, Thomas; Kolodny, Edwin H; Alroy, Joseph
2014 Apr;111(4):513-521, Molecular genetics & metabolism
— id: 884052, year: 2014, vol: 111, page: 513, stat: Journal Article,

Lessons from everyday stroke care for clinical research and vice versa: comparison of a comprehensive and a research population of young stroke patients
Tanislav, Christian; Grittner, Ulrike; Misselwitz, Bjoern; Jungehuelsing, Gerhard Jan; Enzinger, Christian; von Sarnowski, Bettina; Putaala, Jukka; Kaps, Manfred; Kropp, Peter; Rolfs, Arndt; Tatlisumak, Turgut; Fazekas, Franz; Kolodny, Edwin; Norrving, Bo
2014 ;14:45-45, BMC neurology
— id: 1031822, year: 2014, vol: 14, page: 45, stat: Journal Article,

GM2 Gangliosidosis in British Jacob Sheep
Wessels, M E; Holmes, J P; Jeffrey, M; Jackson, M; Mackintosh, A; Kolodny, E H; Zeng, B J; Wang, C B; Scholes, S F E
2014 Feb-Apr;150(2-3):253-257, Journal of comparative pathology
— id: 851712, year: 2014, vol: 150, page: 253, stat: Journal Article,

Headache as a symptom at stroke onset in 4,431 young ischaemic stroke patients. Results from the "stroke in young fabry patients (SIFAP1) study"
Kropp, Peter; Holzhausen, Martin; Kolodny, Edwin; Becker, Ulf; Dichgans, Martin; Diez-Tejedor, Exuperio; Enzinger, Christian; Fazekas, Franz; Fuentes, Blanca; Karpinska, Anna; Meyer, Wolfgang; Tanislav, Christian; Bottcher, Tobias; Rolfs, Arndt
2013 Oct;120(10):1433-1440, Journal of neural transmission
— id: 575582, year: 2013, vol: 120, page: 1433, stat: Journal Article,

Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease
Lukas, Jan; Giese, Anne-Katrin; Markoff, Arseni; Grittner, Ulrike; Kolodny, Ed; Mascher, Hermann; Lackner, Karl J; Meyer, Wolfgang; Wree, Phillip; Saviouk, Viatcheslav; Rolfs, Arndt
2013 Aug;9(8):e1003632-e1003632 e1003632, PLoS genetics
— id: 542972, year: 2013, vol: 9, page: e1003632, stat: Journal Article,

Characterization of strength and function in adults with inclusion body myopathy (HIBM)/GNE myopathy
Mayhew, J. E.; Skrinar, A. M.; Bronstein, F.; Esposito, A.; Feinsod-Meiri, Y.; Florence, J.; Fowler, E.; Greenberg, M.; Malkus, E.; Rebibo, O.; Siener, C.; Caraco, Y.; Kolodny, E.; Lau, H.; Pestronk, A.; Shieh, P.; Argov, Z.
2013 OCT;23(9-10):755-756, Neuromuscular disorders
— id: 576172, year: 2013, vol: 23, page: 755, stat: Journal Article,

Juvenile-onset motor neuron disease caused by novel mutations in beta-hexosaminidase
Pierson, Tyler Mark; Torres, Paola A; Zeng, Bei-Jin; Glanzman, Allan M; Adams, David; Finkel, Richard S; Mahuran, Don J; Pastores, Gregory M; Tennekoon, Gihan I; Kolodny, Edwin H
2013 Jan;108(1):65-69, Molecular genetics & metabolism
— id: 216212, year: 2013, vol: 108, page: 65, stat: Journal Article,

Acute cerebrovascular disease in the young: the stroke in young fabry patients study
Rolfs, Arndt; Fazekas, Franz; Grittner, Ulrike; Dichgans, Martin; Martus, Peter; Holzhausen, Martin; Bottcher, Tobias; Heuschmann, Peter U; Tatlisumak, Turgut; Tanislav, Christian; Jungehulsing, Gerhard J; Giese, Anne-Katrin; Putaala, Jukaa; Huber, Roman; Bodechtel, Ulf; Lichy, Christoph; Enzinger, Christian; Schmidt, Reinhold; Hennerici, Michael G; Kaps, Manfred; Kessler, Christof; Lackner, Karl; Paschke, Eduard; Meyer, Wolfgang; Mascher, Hermann; Riess, Olaf; Kolodny, Edwin; Norrving, Bo
2013 Feb;44(2):340-349, Stroke
— id: 221282, year: 2013, vol: 44, page: 340, stat: Journal Article,

GNE myopathy functional activity scale (GNEM-FAS): Development of a disease-specific instrument for measuring function and independence
Skrinar, A. M.; Argov, Z.; Caraco, Y.; Kolodny, E.; Lau, H.; Pestronk, A.; Shieh, P.; Bronstein, F.; Esposito, A.; Feinsod-Meiri, Y.; Florence, J.; Fowler, E.; Greenberg, M.; Malkus, E.; Rebibo, O.; Siener, C.; Mayhew, J. E.
2013 OCT;23(9-10):755-755, Neuromuscular disorders
— id: 576162, year: 2013, vol: 23, page: 755, stat: Journal Article,

Phenotypic Spectrum of Hematological and Visceral Disease in Type 3 Gaucher Disease and Response to Imiglucerase Therapy: Preliminary Analysis from the ICGG Gaucher Registry
Cole, J. Alexander; Mistry, Pramod; Kolodny, Edwin H.; Tylki-Szymanska, Anna; Belmatoug, Nadia; Cabello, Juan F.; Vellodi, Ashok; Grabowski, Gregory
2012 AUG;21 3 3(SI):154-154, Pharmacoepidemiology & drug safety
— id: 203242, year: 2012, vol: 21 3 3, page: 154, stat: Journal Article,

Hippocampal atrophy as a surrogate of neuronal involvement in Fabry disease
Fellgiebel A; Wolf DO; Kolodny E; Muller MJ
2012 Mar;35(2):363-367, Journal of inherited metabolic disease
— id: 141328, year: 2012, vol: 35, page: 363, stat: Journal Article,

Splice site, frameshift, and chimeric GFAP mutations in Alexander disease
Flint, Daniel; Li, Rong; Webster, Lital S; Naidu, Sakkubai; Kolodny, Edwin; Percy, Alan; van der Knaap, Marjo; Powers, James M; Mantovani, John F; Ekstein, Josef; Goldman, James E; Messing, Albee; Brenner, Michael
2012 Jul;33(7):1141-1148, Human mutation
— id: 169584, year: 2012, vol: 33, page: 1141, stat: Journal Article,

Phenotypic spectrum of hematological and visceral disease in type 3 gaucher disease and response to imiglucerase therapy: Preliminary analysis from the ICGG gaucher registry
Mistry, P; Kolodny, E; Tylki-Szymanska, A; Belmatoug, N; Cabello, J; Vellodi, A; Cole, J A; Grabowski, G
2012 February 2012;105(2):S46-S47, Molecular genetics & metabolism
— id: 164436, year: 2012, vol: 105, page: S46, stat: Journal Article,

Biosensors for brain trauma and dual laser doppler flowmetry: enoxaparin simultaneously reduces stroke-induced dopamine and blood flow while enhancing serotonin and blood flow in motor neurons of brain, in vivo
Broderick, Patricia A; Kolodny, Edwin H
2011 ;11(1):138-161, Sensors (Basel, Switzerland)
— id: 810682, year: 2011, vol: 11, page: 138, stat: Journal Article,

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants)
Clarke, Joe T R; Mahuran, Don J; Sathe, Swati; Kolodny, Edwin H; Rigat, Brigitte A; Raiman, Julian A; Tropak, Michael B
2011 Jan;102(1):6-12, Molecular genetics & metabolism
— id: 126499, year: 2011, vol: 102, page: 6, stat: Journal Article,

Metronomic breathing shows altered parasympathetic baroreflex function in untreated Fabry patients and baroreflex improvement after enzyme replacement therapy
Hilz, Max J; Koehn, Julia; Kolodny, Edwin H; Brys, Miroslaw; Moeller, Sebastian; Stemper, Brigitte
2011 Dec;29(12):2387-2394, Journal of hypertension
— id: 141327, year: 2011, vol: 29, page: 2387, stat: Journal Article,

The enigma of the E326K mutation in acid beta-glucocerebrosidase
Horowitz, Mia; Pasmanik-Chor, Metsada; Ron, Idit; Kolodny, Edwin H
2011 Sep-Oct;104(1-2):35-38, Molecular genetics & metabolism
— id: 137970, year: 2011, vol: 104, page: 35, stat: Journal Article,

Pathology of GM2 gangliosidosis in Jacob sheep
Porter, B F; Lewis, B C; Edwards, J F; Alroy, J; Zeng, B J; Torres, P A; Bretzlaff, K N; Kolodny, E H
2011 Jul;48(4):807-813, Veterinary pathology
— id: 141329, year: 2011, vol: 48, page: 807, stat: Journal Article,

The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry
Rosenbloom, Barry; Balwani, Manisha; Bronstein, Jeff M; Kolodny, Edwin; Sathe, Swati; Gwosdow, Andrea R; Taylor, John S; Cole, J Alexander; Zimran, Ari; Weinreb, Neal J
2011 Jan 15;46(1):95-102, Blood cells, molecules, & diseases
— id: 133195, year: 2011, vol: 46, page: 95, stat: Journal Article,

A mutation in SCARB2 is a modifier in gaucher disease
Velayati, Arash; Depaolo, John; Gupta, Nidhi; Choi, Jae H; Moaven, Nima; Westbroek, Wendy; Goker-Alpan, Ozlem; Goldin, Ehud; Stubblefield, Barbara K; Kolodny, Edwin; Tayebi, Nahid; Sidransky, Ellen
2011 Nov;32(11):1232-1238, Human mutation
— id: 141323, year: 2011, vol: 32, page: 1232, stat: Journal Article,

Open-label Phase I/II clinical trial of pyrimethamine for the treatment of chronic GM2 gangliosidosis
Clarke, J; Kolodny, E; Mahuran, D; Fuller, M; Tropak, M; Keimel, J; Sathe, S; Pesotchinsky, S; Rigat, B
2010 FEB ;99(2):S14-S14, Molecular genetics & metabolism
— id: 109682, year: 2010, vol: 99, page: S14, stat: Journal Article,

Vitamin B12-responsive severe leukoencephalopathy and autonomic dysfunction in a patient with "normal" serum B12 levels
Graber, J J; Sherman, F T; Kaufmann, H; Kolodny, E H; Sathe, S
2010 Dec;81(12):1369-1371, Journal of neurology neurosurgery & psychiatry
— id: 141324, year: 2010, vol: 81, page: 1369, stat: Journal Article,

Enzyme replacement therapy improves cardiovascular responses to orthostatic challenge in Fabry patients
Hilz, Max J; Marthol, Harald; Schwab, Stefan; Kolodny, Edwin H; Brys, Miroslaw; Stemper, Brigitte
2010 Jul;28(7):1438-1448, Journal of hypertension
— id: 138172, year: 2010, vol: 28, page: 1438, stat: Journal Article,

Vulnerability of brain white matter in lysosomal storage diseases
Kolodny, E
2010 APR 1 ;48(4):S29-S30, International journal of clinical pharmacology & therapeutics
— id: 108781, year: 2010, vol: 48, page: S29, stat: Journal Article,

Head trauma can initiate the onset of adreno-leukodystrophy
Raymond, Gerald V; Seidman, Roberta; Monteith, Teshamae S; Kolodny, Edwin; Sathe, Swati; Mahmood, Asif; Powers, James M
2010 Mar 15;290(1-2):70-74, Journal of the neurological sciences
— id: 141325, year: 2010, vol: 290, page: 70, stat: Journal Article,

Tay-Sachs disease in Jacob sheep
Torres, Paola A; Zeng, Bai Jin; Porter, Brian F; Alroy, Joseph; Horak, Fred; Horak, Joan; Kolodny, Edwin H
2010 Dec;101(4):357-363, Molecular genetics & metabolism
— id: 114819, year: 2010, vol: 101, page: 357, stat: Journal Article,

Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry
Tylki-Szymanska, Anna; Vellodi, Ashok; El-Beshlawy, Amal; Cole, J Alexander; Kolodny, Edwin
2010 Aug;33(4):339-346, Journal of inherited metabolic disease
— id: 133787, year: 2010, vol: 33, page: 339, stat: Journal Article,

INTRA-OPERATIVE NEUROMOLECULAR IMAGING (NMI) IN NEOCORTEX OF EPILEPSY PATIENTS: COMPARISON WITH RESECTED EPILEPTOGENIC TISSUE
Broderick, PA; Doyle, WK; Pacia, SV; Kuzniecky, RI; Devinsky, O; Kolodny, EH
2009 NOV ;50(1):47-48, Epilepsia
— id: 106071, year: 2009, vol: 50, page: 47, stat: Journal Article,

Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I
Clarke, Lorne A; Wraith, J Edmond; Beck, Michael; Kolodny, Edwin H; Pastores, Gregory M; Muenzer, Joseph; Rapoport, David M; Berger, Kenneth I; Sidman, Marisa; Kakkis, Emil D; Cox, Gerald F
2009 Jan;123(1):229-240, Pediatrics
— id: 94365, year: 2009, vol: 123, page: 229, stat: Journal Article,

Newborn screening for Krabbe disease: the New York State model
Duffner, Patricia K; Caggana, Michele; Orsini, Joseph J; Wenger, David A; Patterson, Marc C; Crosley, Carl J; Kurtzberg, Joanne; Arnold, Georgianne L; Escolar, Maria L; Adams, Darius J; Andriola, Mary R; Aron, Alan M; Ciafaloni, Emma; Djukic, Alexandra; Erbe, Richard W; Galvin-Parton, Patricia; Helton, Laura E; Kolodny, Edwin H; Kosofsky, Barry E; Kronn, David F; Kwon, Jennifer M; Levy, Paul A; Miller-Horn, Jill; Naidich, Thomas P; Pellegrino, Joan E; Provenzale, James M; Rothman, Stanley J; Wasserstein, Melissa P
2009 Apr;40(4):245-52; discussion 253, Pediatric neurology
— id: 126508, year: 2009, vol: 40, page: 245, stat: Journal Article,

Variable Expression of a Novel PLP1 Mutation in Members of a Family With Pelizaeus-Merzbacher Disease
Fattal-Valevski, Aviva; DiMaio, Miriam S; Hisama, Fuki M; Hobson, Grace M; Davis-Williams, Angelique; Garbern, James Y; Mahoney, Maurice J; Kolodny, Edwin H; Pastores, Gregory M
2009 May;24(5):618-624, Journal of child neurology
— id: 95738, year: 2009, vol: 24, page: 618, stat: Journal Article,

ENZYME REPLACEMENT THERAPY DECREASED FOREARM AND HAND COMPLIANCE IN FABRY DISEASE
Hilz, MJ; Kolodny, EH; Marthol, H
2009 JUL ;14(9):65-65, Journal of the peripheral nervous system
— id: 102290, year: 2009, vol: 14, page: 65, stat: Journal Article,

Acute Confusional Migraine May Be a Presenting Feature of CADASIL
Sathe, Swati; DePeralta, Edgar; Pastores, Gregory; Kolodny, Edwin H
2009 Apr;49(4):590-596, Headache
— id: 95736, year: 2009, vol: 49, page: 590, stat: Journal Article,

Re: Neurocognitive testing in late-onset Tay-Sachs disease: A pilot study
Shapiro, Barbara E; Kolodny, Edwin H; Pastores, Gregory M; Luzy, Cecile
2009 Apr;32(2):310-311, Journal of inherited metabolic disease
— id: 95737, year: 2009, vol: 32, page: 310, stat: Journal Article,

Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment
Shapiro, Barbara E; Pastores, Gregory M; Gianutsos, John; Luzy, Cecile; Kolodny, Edwin H
2009 Jun;11(6):425-433, Genetics in medicine
— id: 109088, year: 2009, vol: 11, page: 425, stat: Journal Article,

Neuronopathic Gaucher Disease: Demographics, Clinical Features in 131 Patients Enrolled in the ICGG Neurological Outcomes Subregistry
Tylki-Szymanska, A; Vellodi, A; El-Beshlawy, A; Cole, JA; Kolodny, E
2009 AUG ;18(8):S224-S225, Pharmacoepidemiology & drug safety
— id: 101936, year: 2009, vol: 18, page: S224, stat: Journal Article,

Management of neuronopathic Gaucher disease: revised recommendations
Vellodi, A; Tylki-Szymanska, A; Davies, E H; Kolodny, E; Bembi, B; Collin-Histed, T; Mengel, E; Erikson, A; Schiffmann, R
2009 Oct;32(5):660-664, Journal of inherited metabolic disease
— id: 141326, year: 2009, vol: 32, page: 660, stat: Journal Article,

Enzyme replacement therapy improves skin blood flow control in Fabry patients
Hilz, MJ; Kolodny, EH; Marthol, H
2008 AUG ;15(3):49-49, European journal of neurology
— id: 98134, year: 2008, vol: 15, page: 49, stat: Journal Article,

Enzyme replacement therapy lowers forearm and hand compliance in Fabry patients
Hilz, MJ; Kolodny, EH; Marthol, H
2008 AUG ;15(3):48-49, European journal of neurology
— id: 98133, year: 2008, vol: 15, page: 48, stat: Journal Article,

GMI-gangliosidosis in an American Black Bear
Kolodny, E; Frankel, B; Torres, P; Alroy, J; Raghavan, S
2008 FEB ;93(2):S28-S28, Molecular genetics & metabolism
— id: 87126, year: 2008, vol: 93, page: S28, stat: Journal Article,

A novel GM2-activator deficiency mutation as a cause of AB variant GM2-gangliosidosis
Kolodny, E; Sathe, S; Zeng, BJ; Torres, P; Alroy, J; Pastores, G
2008 FEB ;93(2):S27-S28, Molecular genetics & metabolism
— id: 87125, year: 2008, vol: 93, page: S27, stat: Journal Article,

Clinical and demographic characteristics of 131 patients with neuronopathic Gaucher disease enrolled in the Neurological Outcomes Sub-Registry of the ICGG Gaucher Registry
Kolodny, E; Vellodi, A; El Beshlawy, A; Cole, JA; Tylki-Szymanski, A
2008 FEB ;93(2):S27-S27, Molecular genetics & metabolism
— id: 87124, year: 2008, vol: 93, page: S27, stat: Journal Article,

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease ?
Kroos, Marian A; Mullaart, Reinier A; Van Vliet, Laura; Pomponio, Robert J; Amartino, Hernan; Kolodny, Edwin H; Pastores, Gregory M; Wevers, Ron A; Van der Ploeg, Ans T; Halley, Dicky J J; Reuser, Arnold J J
2008 Aug;16(8):875-879, European journal of human genetics
— id: 77799, year: 2008, vol: 16, page: 875, stat: Journal Article,

Juvenile-onset g(m2)-gangliosidosis in an african-american child with nystagmus
Paciorkowski, Alex R; Sathe, Swati; Zeng, Bei-Jin; Torres, Paola; Rosengren, Sally S; Kolodny, Edwin
2008 Apr;38(4):284-286, Pediatric neurology
— id: 77798, year: 2008, vol: 38, page: 284, stat: Journal Article,

Novel mutations in juvenile Sandhoff disease presenting as motor neuron disease
Pierson, TM; Zeng, BJ; Torres, P; Pastores, G; Finkel, R; Mahuran, D; Kolodny, E; Tennekoon, G
2008 FEB ;93(2):S33-S33, Molecular genetics & metabolism
— id: 87128, year: 2008, vol: 93, page: S33, stat: Journal Article,

Homozygosity for a tandem mutation (D409H and H255Q) leads to acute neuronopathic Gaucher disease
Sathe, S; Basturk, O; Miller, D; Greco, MA; Potaznik, D; Pastores, G; Kolodny, E
2008 FEB ;93(2):S34-S35, Molecular genetics & metabolism
— id: 87129, year: 2008, vol: 93, page: S34, stat: Journal Article,

Acute Confusional Migraine may be the Presenting Feature of CADASIL
Sathe, S; Deperalta, E; Kolodny, EH
2008 DEC ;64(6):S161-S162, Annals of neurology
— id: 91498, year: 2008, vol: 64, page: S161, stat: Journal Article,

Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients
Shapiro, Barbara E; Logigian, Eric L; Kolodny, Edwin H; Pastores, Gregory M
2008 Aug;38(2):1012-1015, Muscle & nerve
— id: 95739, year: 2008, vol: 38, page: 1012, stat: Journal Article,

CLINICAL AND DEMOGRAPHIC CHARACTERISTICS OF 131 PATIENTS WITH NEURONOPATHIC GAUCHER DISEASE ENROLLED IN THE NEUROLOGICAL OUTCOMES SUBREGISTRY OF THE INTERNATIONAL COLLABORATIVE GAUCHER GROUP GAUCHER REGISTRY
Tylki-Szymanska, A; Vellodi, A; El-Beshlawy, A; Cole, JA; Kolodny, E
2008 OCT ;30(10):S96-S97, Clinical therapeutics
— id: 90779, year: 2008, vol: 30, page: S96, stat: Journal Article,

Spontaneous appearance of Tay-Sachs disease in an animal model
Zeng, B J; Torres, P A; Viner, T C; Wang, Z H; Raghavan, S S; Alroy, J; Pastores, G M; Kolodny, E H
2008 Sep-Oct;95(1-2):59-65, Molecular genetics & metabolism
— id: 93349, year: 2008, vol: 95, page: 59, stat: Journal Article,

A phase III extension study of Aldurazyme (R) (Laronidase) in mucopolysaccharidosis I
Clarke, LA; Wraith, JE; Beck, M; Kolodny, EH; Pastores, GM; Muenzers, J
2007 DEC ;29(6):S111-S111, Clinical therapeutics
— id: 98159, year: 2007, vol: 29, page: S111, stat: Journal Article,

Neuropathology of LSDs
Kolodny, Edwin
2007 Apr;96(455):25-25, Acta paediatrica. Supplement
— id: 72966, year: 2007, vol: 96, page: 25, stat: Journal Article,

Phenotypic characterization of parkinsonism in patients with Gaucher Disease
Sathe S; Pastores GM; Kolodny E; DiRocco A
2007 ;13(Suppl 2):S64-S64 A1.216, Parkinsonism & related disorders
— id: 75296, year: 2007, vol: 13, page: S64, stat: Journal Article,

Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties
Zia, A; Kolodny, E H; Pastores, G M
2007 Oct;30(5):817-817, Journal of inherited metabolic disease
— id: 75013, year: 2007, vol: 30, page: 817, stat: Journal Article,

A phase 3 extension study of Aldurazyme (R) (laronidase) in mucopolysaccharidosis I (MPS I)
Clarke, LA; Wraith, JE; Beck, M; Kolodny, EH; Pastores, GM; Muenzer, J
2006 AUG ;29(5):28-28, Journal of inherited metabolic disease
— id: 74922, year: 2006, vol: 29, page: 28, stat: Journal Article,

Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes
Hobson, Grace M; Huang, Zhong; Sperle, Karen; Sistermans, Erik; Rogan, Peter K; Garbern, James Y; Kolodny, Edwin; Naidu, Sakkubai; Cambi, Franca
2006 Jan;27(1):69-77, Human mutation
— id: 62685, year: 2006, vol: 27, page: 69, stat: Journal Article,

Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene
Janson, Christopher G; Kolodny, Edwin H; Zeng, Bai-Jin; Raghavan, Srinivasa; Pastores, Gregory; Torres, Paola; Assadi, Mitra; McPhee, Scott; Goldfarb, Olga; Saslow, Beth; Freese, Andrew; Wang, D J; Bilaniuk, Larissa; Shera, David; Leone, Paola
2006 Feb;59(2):428-431, Annals of neurology
— id: 62683, year: 2006, vol: 59, page: 428, stat: Journal Article,

CNS pathology and vascular/circulatory abnormalities in Fabry disease
Kolodny, Edwin H; Pastores, Gregory M
2006 Apr;95(451):55-56, Acta paediatrica. Supplement
— id: 69022, year: 2006, vol: 95, page: 55, stat: Journal Article,

Spontaneous appearance of Tay-Sachs disease in American flamingos
Kolodny, EH; Zeng, BJ; Viner, T; Torres, PA; Wang, ZH; Raghavan, SS
2006 MAR 14 ;66(5):274-274, Neurology
— id: 74924, year: 2006, vol: 66, page: 274, stat: Journal Article,

Leukodystrophies: clinical and genetic aspects
Lyon, Gilles; Fattal-Valevski, Aviva; Kolodny, Edwin H
2006 Aug;17(4):219-242, Topics in magnetic resonance imaging
— id: 74921, year: 2006, vol: 17, page: 219, stat: Journal Article,

Neurology of hereditary metabolic diseases of children
Lyon, Gilles; Kolodny, Edwin H; Pastores, Gregory M
New York : McGraw-Hill, 2006,
— id: 1362, year: 2006, vol: , page: , stat: ,

T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy
Shy, Michael E; Scavina, Mena T; Clark, Alisa; Krajewski, Karen M; Li, Jun; Kamholz, John; Kolodny, Edwin; Szigeti, Kinga; Fischer, Richard A; Saifi, Gulam Mustafa; Scherer, Steven S; Lupski, James R
2006 Feb;59(2):358-364, Annals of neurology
— id: 159201, year: 2006, vol: 59, page: 358, stat: Journal Article,

Mucopolysaccharidosis type VII (Sly syndrome) in a Thai boy: First reported case
Wasant, P; Kolodny, EH
2006 AUG ;29(5):156-156, Journal of inherited metabolic disease
— id: 74923, year: 2006, vol: 29, page: 156, stat: Journal Article,

Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease
Zeng, B J; Wang, Z H; Torres, P A; Pastores, G M; Leone, P; Raghavan, S S; Kolodny, E H
2006 Sep-Oct;89(1-2):156-163, Molecular genetics & metabolism
— id: 69024, year: 2006, vol: 89, page: 156, stat: Journal Article,

Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease
Zeng, Bai-Jin; Pastores, Gregory M; Leone, Paola; Raghavan, Srinivasa; Wang, Zhao-Hui; Ribeiro, Lucilene A; Torres, Paola; Ong, Elton; Kolodny, Edwin H
2006 ;576:165-73; discussion 361, Advances in experimental medicine & biology
— id: 67534, year: 2006, vol: 576, page: 165, stat: Journal Article,

Bioimaging in neurodegeneration
Broderick, Patricia A; Rahni, David N; Kolodny, Edwin H
Totowa NJ : Humana Press, 2005,
— id: 1361, year: 2005, vol: , page: , stat: ,

MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis
Inglese, Matilde; Nusbaum, Annette O; Pastores, Gregory M; Gianutsos, John; Kolodny, Edwin H; Gonen, Oded
2005 Sep;26(8):2037-2042, AJNR. American journal of neuroradiology
— id: 61242, year: 2005, vol: 26, page: 2037, stat: Journal Article,

Overview of the leukoencephalopathies : an MRI point of view
Kolodny, Edwin
Bioimaging in neurodegeneration Totowa NJ : Humana Press, 2005,
— id: 4619, year: 2005, vol: , page: ?, stat: Chapter,

Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients
Neudorfer, Orit; Pastores, Gregory M; Zeng, Bai J; Gianutsos, John; Zaroff, Charles M; Kolodny, Edwin H
2005 Feb;7(2):119-123, Genetics in medicine
— id: 48748, year: 2005, vol: 7, page: 119, stat: Journal Article,

An open-label, noncomparative study of miglustat in type I Gaucher disease: Efficacy and tolerability over 24 months of treatment
Pastores, Gregory M; Barnett, Natalie L; Kolodny, Edwin H
2005 Aug;27(8):1215-1227, Clinical therapeutics
— id: 62686, year: 2005, vol: 27, page: 1215, stat: Journal Article,

Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations
Raghavan, S; Zeng, B; Torres, P A; Pastores, G M; Kolodny, E H; Kurtzberg, J; Krivit, W
2005 ;28(6):1005-1009, Journal of inherited metabolic disease
— id: 64662, year: 2005, vol: 28, page: 1005, stat: Journal Article,

ALDURAZYME (LARONIDASE) ENZYME REPLACEMENT THERAPY FOR MPS I: 96-WEEK EXTENSION DATA
Wraith, JE; Muenzer, J; Kolodny, EH; Pastores, GM; Beck, M; Clarke, LA
2005 JUL ;28(6):182-182, Journal of inherited metabolic disease
— id: 100634, year: 2005, vol: 28, page: 182, stat: Journal Article,

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations
Charrow, Joel; Andersson, Hans C; Kaplan, Paige; Kolodny, Edwin H; Mistry, Pramod; Pastores, Gregory; Prakash-Cheng, Ainu; Rosenbloom, Barry E; Scott, C Ronald; Wappner, Rebecca S; Weinreb, Neal J
2004 Jan;144(1):112-120, Journal of pediatrics
— id: 62688, year: 2004, vol: 144, page: 112, stat: Journal Article,

Aldurazyme (laronidase) enzyme replacement therapy for MPS I: 72-week extension data
Clarke, LA; Wraith, JE; Beck, M; Kolodny, EH; Pastores, GM; Muenzer, J
2004 MAR ;81(3):169-169, Molecular genetics & metabolism
— id: 74925, year: 2004, vol: 81, page: 169, stat: Journal Article,

Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease
Hilz, Max Josef; Kolodny, Edwin H; Brys, Miroslaw; Stemper, Brigitte; Haendl, Thomas; Marthol, Harald
2004 Jun;251(5):564-570, Journal of neurology
— id: 46144, year: 2004, vol: 251, page: 564, stat: Journal Article,

Enzyme replacement therapy (ERT) for infantile onset Pompe disease: long term follow-up results
Kishnani, P; Nicolino, M; Voit, T; Tsai, C; Herman, G; Waterson, J; Rogers, R; Levine, J; Amalfitano, A; Charrow, J; Tiller, G; Schaefer, B; Kolodny, E; Corzo, D; Chen, YT
2004 JUL-AUG ;6(4):268-268, Genetics in medicine
— id: 48692, year: 2004, vol: 6, page: 268, stat: Journal Article,

Enzyme replacement therapy for infantile onset Pompe disease: long term follow-up results
Kishnani, P; Nicolino, M; Voit, T; Tsai, CH; Herman, G; Waterson, J; Rogers, RC; Levine, J; Amalfitano, A; Charrow, J; Tiller, G; Schaefer, B; Kolodny, E; Corzo, D; Chen, YT
2004 MAR ;81(3):169-169, Molecular genetics & metabolism
— id: 42476, year: 2004, vol: 81, page: 169, stat: Journal Article,

Late-onset Tay-Sachs disease: natural history and treatment with OGT 918 (Zavesca (TM))
Kolodny, EH; Neudorfer, O; Gianutsos, J; Zaroff, C; Barnett, N; Zeng, B; Raghavan, S; Torres, P; Pastores, G
2004 AUG ;90(5):54-54, Journal of neurochemistry
— id: 46902, year: 2004, vol: 90, page: 54, stat: Journal Article,

Late-onset Tay-Sachs disease
Neudorfer, Orit; Kolodny, Edwin H
2004 Feb;6(2):107-111, Israel Medical Association journal
— id: 42582, year: 2004, vol: 6, page: 107, stat: Journal Article,

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients
Weinreb, Neal J; Aggio, Mario C; Andersson, Hans C; Andria, Generoso; Charrow, Joel; Clarke, Joe T R; Erikson, Anders; Giraldo, Pilar; Goldblatt, Jack; Hollak, Carla; Ida, Hiroyuki; Kaplan, Paige; Kolodny, Edwin H; Mistry, Pramod; Pastores, Gregory M; Pires, Ricardo; Prakash-Cheng, Ainu; Rosenbloom, Barry E; Scott, C Ronald; Sobreira, Elisa; Tylki-Szymanska, Anna; Vellodi, Ashok; vom Dahl, Stephan; Wappner, Rebecca S; Zimran, Ari
2004 Oct;41(4 Suppl 5):15-22, Seminars in hematology
— id: 62687, year: 2004, vol: 41, page: 15, stat: Journal Article,

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)
Wraith, James E; Clarke, Lorne A; Beck, Michael; Kolodny, Edwin H; Pastores, Gregory M; Muenzer, Joseph; Rapoport, David M; Berger, Kenneth I; Swiedler, Stuart J; Kakkis, Emil D; Braakman, Tanja; Chadbourne, Elenie; Walton-Bowen, Karen; Cox, Gerald F
2004 May;144(5):581-588, Journal of pediatrics
— id: 43226, year: 2004, vol: 144, page: 581, stat: Journal Article,

Neuropsychological assessment of patients with late onset GM2 gangliosidosis
Zaroff, C M; Neudorfer, O; Morrison, C; Pastores, G M; Rubin, H; Kolodny, E H
2004 Jun 22;62(12):2283-2286, Neurology
— id: 47856, year: 2004, vol: 62, page: 2283, stat: Journal Article,

Effects of Aldurazyme (R) (laronidase) on joint mobility in MPS I
Bajbouj, M; Beck, M; Wraith, JE; Clarke, LA; Kolodny, EH; Pastores, GM; Muenzer, J
2003 NOV ;73(5):621-621, American journal of human genetics
— id: 74928, year: 2003, vol: 73, page: 621, stat: Journal Article,

Aldurazyme (R) (laronidase) enzyme replacement therapy for MPS I: 48-week extension data
Clarke, LA; Wraith, JE; Beck, M; Kolodny, EH; Pastores, GM
2003 NOV ;73(5):623-623, American journal of human genetics
— id: 74929, year: 2003, vol: 73, page: 623, stat: Journal Article,

Demography of untreated Type 1 Gaucher disease (GD1) in children
Kaplan, P; Andersson, HC; Charrow, J; Prakash-Cheng, A; Kolodny, EH; Mistry, P; Pastores, GM; Rosenbloom, B; Scott, CR; Wappner, RS; Weinreb, N
2003 NOV ;73(5):456-456, American journal of human genetics
— id: 74927, year: 2003, vol: 73, page: 456, stat: Journal Article,

Glycosphingolipid reduction in fibroblasts of Tay-Sachs disease patients treated with n-butyldeoxynojirimycin
Ong, E; Raghavan, S; Pastores, G; Kolodny, EH
2003 MAY ;85(9):68-68, Journal of neurochemistry
— id: 38572, year: 2003, vol: 85, page: 68, stat: Journal Article,

A neurological symptom survey of patients with type I Gaucher disease
Pastores, G M; Barnett, N L; Bathan, P; Kolodny, E H
2003 ;26(7):641-645, Journal of inherited metabolic disease
— id: 46030, year: 2003, vol: 26, page: 641, stat: Journal Article,

The clinical benefit of Aldurazyme (R) (laronidase) for the treatment of MPS I
Pastores, GM; Wraith, JE; Clarke, LA; Beck, M; Kolodny, EH; Muenzer, J; Cox, FG; Skrinar, AM
2003 NOV ;73(5):624-624, American journal of human genetics
— id: 74930, year: 2003, vol: 73, page: 624, stat: Journal Article,

Incidence of malignancies among adult patients with type I Gaucher disease: Data from a single referral clinic and from the International Gaucher Registry (ICGG)
Zimran, A; Rosenbloom, B; Andersson, HC; Charrow, J; Kaplan, P; Kolodny, EH; Mistry, P; Prakash-Cheng, A; Scott, CR; Wappner, RS; Weinreb, NJ; Elstein, D
2003 NOV 16 ;102(11):43B-43B, Blood
— id: 74926, year: 2003, vol: 102, page: 43B, stat: Journal Article,

RhIDU enzyme replacement therapy for MPS 1: 24-week extension study
Clarke, LA; Muenzer, J; Kolodny, EH; Pastores, GM; Beck, M; Wraith, JE
2002 OCT ;71(4):581-581, American journal of human genetics
— id: 74932, year: 2002, vol: 71, page: 581, stat: Journal Article,

Clinical protocol. Gene therapy of Canavan disease: AAV-2 vector for neurosurgical delivery of aspartoacylase gene (ASPA) to the human brain
Janson, Christopher; McPhee, Scott; Bilaniuk, Larissa; Haselgrove, John; Testaiuti, Mark; Freese, Andrew; Wang, Dah-Jyuu; Shera, David; Hurh, Peter; Rupin, Joan; Saslow, Elizabeth; Goldfarb, Olga; Goldberg, Michael; Larijani, Ghassem; Sharrar, William; Liouterman, Larisa; Camp, Angelique; Kolodny, Edwin; Samulski, Jude; Leone, Paola
2002 Jul 20;13(11):1391-1412, Human gene therapy
— id: 62689, year: 2002, vol: 13, page: 1391, stat: Journal Article,

Anderson-Fabry disease: extrarenal, neurologic manifestations
Kolodny, Edwin H; Pastores, Gregory M
2002 Jun;13 Suppl 2(3):S150-S153, Journal of the American Society of Nephrology
— id: 39626, year: 2002, vol: 13 Suppl 2, page: S150, stat: Journal Article,

Therapeutic effects of astrocytes expressing both tyrosine hydroxylase and brain-derived neurotrophic factor on a rat model of Parkinson's disease
Wang, Z H; Ji, Y; Shan, W; Zeng, B; Raksadawan, N; Pastores, G M; Wisniewski, T; Kolodny, E H
2002 ;113(3):629-640, Neuroscience
— id: 39612, year: 2002, vol: 113, page: 629, stat: Journal Article,

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry
Weinreb, Neal J; Charrow, Joel; Andersson, Hans C; Kaplan, Paige; Kolodny, Edwin H; Mistry, Pramod; Pastores, Gregory; Rosenbloom, Barry E; Scott, C Ronald; Wappner, Rebecca S; Zimran, Ari
2002 Aug 1;113(2):112-119, American journal of medicine
— id: 62690, year: 2002, vol: 113, page: 112, stat: Journal Article,

Massive and partially refractory splenomegaly significantly influences the platelet (PLT) response to enzyme replacement therapy (ERT) in thrombocytopenic patients with Gaucher disease (GD): Report from the Gaucher Registry
Weinreb, NJ; Andersson, H; Charrow, J; Kaplan, P; Kolodny, EH; Mistry, PK; Pastores, G; Prakash-Cheng, A; Rosenbloom, BE; Scott, CR; Wappner, RS
2002 NOV 16 ;100(11):485A-485A, Blood
— id: 74931, year: 2002, vol: 100, page: 485A, stat: Journal Article,

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease
Zeng, B J; Wang, Z H; Ribeiro, L A; Leone, P; De Gasperi, R; Kim, S J; Raghavan, S; Ong, E; Pastores, G M; Kolodny, E H
2002 Nov;25(7):557-570, Journal of inherited metabolic disease
— id: 39272, year: 2002, vol: 25, page: 557, stat: Journal Article,

Growth improvement in response to enzyme replacement therapy (ERT) among children with Gaucher disease: The Gaucher Registry
Kaplan, P; Andersson, HC; Charrow, J; Kolodny, EH; Mistry, P; Pastores, GM; Rosenbloom, BE; Scott, CR; Wappner, RS; Weinreb, NJ
2001 OCT ;69(4):674-674, American journal of human genetics
— id: 74935, year: 2001, vol: 69, page: 674, stat: Journal Article,

Molecular genetics of the beta-hexosaminidase isoenzymes: an introduction
Kolodny EH
2001 ;44(3):101-126, Advances in genetics
— id: 39475, year: 2001, vol: 44, page: 101, stat: Journal Article,

Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV
Wang ZH; Zeng B; Pastores GM; Raksadawan N; Ong E; Kolodny EH
2001 Summer;5(2):87-92, Genetic testing
— id: 39483, year: 2001, vol: 5, page: 87, stat: Journal Article,

The major mutation in mucolipidosis IV among Ashkenazi Jewish individuals requires further clarification. (vol 5, pg 87, 2001)
Wang, ZH; Zeng, B; Pastores, GM; Raksadawan, N; Ong, E; Kolodny, EH
2001 ;5(3):273-273 FAL, Genetic testing
— id: 74933, year: 2001, vol: 5, page: 273, stat: Journal Article,

Clinical factors influencing the achievement of a complete response (CR) after 24 months of enzyme replacement therapy (ERT) in patients with Gaucher disease (GD): The Gaucher Registry
Weinreb, NJ; Andersson, HC; Charrow, J; Kaplan, P; Kolodny, EH; Mistry, P; Pastores, G; Rosenbloom, BE; Scott, CR; Wappner, RS
2001 NOV 16 ;98(11):20A-20A, Blood
— id: 74934, year: 2001, vol: 98, page: 20A, stat: Journal Article,

The Gaucher Registry: Demographics and disease characteristics and response to enzyme replacement therapy (ERT) for 78 pediatric patients (pts)
Andersson, H; Charrow, J; Kaplan, P; Kolodny, EH; Mistry, P; Pastores, G; Rosenbloom, BE; Wappner, RS
2000 NOV 16 ;96(11):8A-8A, Blood
— id: 74936, year: 2000, vol: 96, page: 8A, stat: Journal Article,

Polyglucosan body myopathy
Carniciu, S; Kiprovski, K; Levine, DN; ZagZag, D; Bronfin, L; Kolodny, EH
2000 SEP ;48(3):440-440, Annals of neurology
— id: 74939, year: 2000, vol: 48, page: 440, stat: Journal Article,

The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease
Charrow, J; Andersson, H C; Kaplan, P; Kolodny, E H; Mistry, P; Pastores, G; Rosenbloom, B E; Scott, C R; Wappner, R S; Weinreb, N J; Zimran, A
2000 Oct 9;160(18):2835-2843, Archives of internal medicine
— id: 75015, year: 2000, vol: 160, page: 2835, stat: Journal Article,

Measurements from normal umbilical cord blood of four lysosomal enzymatic activities: alpha-L-iduronidase (Hurler), galactocerebrosidase (globoid cell leukodystrophy), arylsulfatase A (metachromatic leukodystrophy), arylsulfatase B (Maroteaux-Lamy)
deGasperi R; Raghavan SS; Sosa MG; Kolodny EH; Carrier C; Rubenstein P; Peters C; Wagner J; Kurtzberg J; Krivit W
2000 Mar;25(5):541-544, Bone marrow transplantation
— id: 11805, year: 2000, vol: 25, page: 541, stat: Journal Article,

Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients
Hilz MJ; Stemper B; Kolodny EH
2000 Feb;84(2-3):361-365, Pain
— id: 37038, year: 2000, vol: 84, page: 361, stat: Journal Article,

Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease
Hobson, G M; Davis, A P; Stowell, N C; Kolodny, E H; Sistermans, E A; de Coo, I F; Funanage, V L; Marks, H G
2000 Oct 24;55(8):1089-1096, Neurology
— id: 75014, year: 2000, vol: 55, page: 1089, stat: Journal Article,

Analysis of splice site mutations of the proteolipid protein (PLP) gene in Pelizaeus-Merzbacher disease
Hobson, GM; Sistermans, EA; de Coo, IFM; Stabley, D; Kolodny, EH; Funanage, VL; Garbern, JY; Marks, HG
2000 OCT ;67(4):374-374, American journal of human genetics
— id: 54433, year: 2000, vol: 67, page: 374, stat: Journal Article,

Results of a phase I clinical trial of allogeneic mesenchymal stem cell (MSC) transplantation in patients with Hurler disease and metachromatic leukodystrophy (MLD)
Koc, ON; Day, J; Brown, D; Andrews, P; Peters, C; Nieder, M; Gerson, SL; Lazarus, HM; Caplan, AI; Laughlin, MJ; Raghavan, S; Kolodny, EH; Krivit, W
2000 NOV 16 ;96(11):170A-170A, Blood
— id: 74938, year: 2000, vol: 96, page: 170A, stat: Journal Article,

Niemann-Pick disease
Kolodny EH
2000 Jan;7(1):48-52, Current opinion in hematology
— id: 11894, year: 2000, vol: 7, page: 48, stat: Journal Article,

Researching Neurometabolic Diseases: The Work of Dr.Roscoe O. Brady
Rowland, Lewis P; Kolodny, Edwin
[S.l.] : NIH, 2000,
— id: 1433, year: 2000, vol: , page: , stat: ,

Researching neurometabolic diseases : the work of Dr. Roscoe O. Brady
Rowland, Lewis P; Kolodny, Edwin H; Brady, Roscoe O
[Bethesda MD : National Institutes of Health], 2000,
— id: 1662, year: 2000, vol: , page: , stat: ,

Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis
Wang ZH; Zeng B; Shibuya H; Johnson GS; Alroy J; Pastores GM; Raghavan S; Kolodny EH
2000 Sep;23(6):593-606, Journal of inherited metabolic disease
— id: 39537, year: 2000, vol: 23, page: 593, stat: Journal Article,

The Gaucher Registry: Severe bone disease among patients with Gaucher disease in the absence of significant hematologic abnormalities
Weinreb, NJ; Andersson, H; Charrow, J; Kaplan, P; Kolodny, EH; Mistry, P; Pastores, G; Rosenbloom, BE; Scott, CR; Wappner, RS
2000 NOV 16 ;96(11):8A-8A, Blood
— id: 74937, year: 2000, vol: 96, page: 8A, stat: Journal Article,

Gaucher disease - In reply
Charrow, J; Esplin, JA; Kaplan, P; Kolodny, EH; Pastores, GM; Scott, CR; Wappner, RS; Weinreb, NJ; Wisch, JS
1999 APR 26 ;159(8):881-882, Archives of internal medicine
— id: 74943, year: 1999, vol: 159, page: 881, stat: Journal Article,

Recommendations for diagnosis, evaluation, and monitoring of patients with Gaucher disease - In reply
Charrow, J; Esplin, JA; Kaplan, P; Kolodny, EH; Pastores, GM; Scott, CR; Wappner, RS; Weinreb, NJ; Wisch, JS
1999 JUN 14 ;159(11):1255-1255, Archives of internal medicine
— id: 74941, year: 1999, vol: 159, page: 1255, stat: Journal Article,

Molecular basis of late-life globoid cell leukodystrophy
De Gasperi R; Gama Sosa MA; Sartorato E; Battistini S; Raghavan S; Kolodny EH
1999 ;14(3):256-262, Human mutation
— id: 9849, year: 1999, vol: 14, page: 256, stat: Journal Article,

Glycolipid-like molecular mimicry of a human protein
Gama, Sosa M A; DeGasperi, R; Kolodny, E H
1999 Oct 23-28;25(1-2):998-998, Abstracts (Society for Neuroscience)
— id: 15851, year: 1999, vol: 25, page: 998, stat: Journal Article,

Sympathetic skin response following thermal, electrical, acoustic, and inspiratory gasp stimulation in familial dysautonomia patients and healthy persons
Hilz MJ; Azelrod FB; Schweibold G; Kolodny EH
1999 Aug;9(4):165-177, Clinical autonomic research
— id: 56486, year: 1999, vol: 9, page: 165, stat: Journal Article,

Quantitative thermal perception testing in adults
Hilz MJ; Stemper B; Axelrod FB; Kolodny EH; Neundorfer B
1999 Sep;16(5):462-471, Journal of clinical neurophysiology
— id: 37039, year: 1999, vol: 16, page: 462, stat: Journal Article,

Mutations in noncoding regions of the proteolipid protein gene in patients with pelizaeus Merzbacher disease (PMD) and PMD-like disorders
Hobson, GM; Davis, A; Stowell, N; Funanage, VL; Kolodny, EH; Marks, HG
1999 SEP ;46(3):530-530, Annals of neurology
— id: 74940, year: 1999, vol: 46, page: 530, stat: Journal Article,

Mutations in non-coding regions of the proteolipid protein (PLP) gene in patients with Pelizaeus Merzbacher disease (PMD) and PMD-like disorders
Hobson, GM; Davis, A; Stowell, N; Kolodny, EH; Funanage, VL; Marks, HG
1999 OCT ;65(4):A301-A301, American journal of human genetics
— id: 53827, year: 1999, vol: 65, page: A301, stat: Journal Article,

Bone marrow-derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases
Koc, O N; Peters, C; Aubourg, P; Raghavan, S; Dyhouse, S; DeGasperi, R; Kolodny, E H; Yoseph, Y B; Gerson, S L; Lazarus, H M; Caplan, A I; Watkins, P A; Krivit, W
1999 Nov;27(11):1675-1681, Experimental hematology
— id: 75016, year: 1999, vol: 27, page: 1675, stat: Journal Article,

A gene involved in mucolipidosis type IV is located on chromosome 1
Kolodny, EH; Gordon, D; Brown, DM; De Gasperi, R; Ott, J; Sosa, MAG
1999 APR ;52(6):A316-A316, Neurology
— id: 74942, year: 1999, vol: 52, page: A316, stat: Journal Article,

G(M2)-ganglioside metabolism in situ in mucolipidosis IV fibroblasts
Raghavan S; Leshinsky E; Kolodny EH
1999 Apr;24(4):475-479, Neurochemical research
— id: 6109, year: 1999, vol: 24, page: 475, stat: Journal Article,

In vivo and in vitro glioma cell killing induced by an adenovirus expressing both cytosine deaminase and thymidine kinase and its association with interferon-alpha
Wang ZH; Zagzag D; Zeng B; Kolodny EH
1999 Aug;58(8):847-858, Journal of neuropathology & experimental neurology
— id: 57538, year: 1999, vol: 58, page: 847, stat: Journal Article,

Gaucher disease: recommendations on diagnosis, evaluation, and monitoring
Charrow, J; Esplin, J A; Gribble, T J; Kaplan, P; Kolodny, E H; Pastores, G M; Scott, C R; Wappner, R S; Weinreb, N J; Wisch, J S
1998 Sep 14;158(16):1754-1760, Archives of internal medicine
— id: 75017, year: 1998, vol: 158, page: 1754, stat: Journal Article,

Highly abnormal thermotests in familial dysautonomia suggest increased cardiac autonomic risk
Hilz MJ; Kolodny EH; Neuner I; Stemper B; Axelrod FB
1998 Sep;65(3):338-343, Journal of neurology neurosurgery & psychiatry
— id: 7601, year: 1998, vol: 65, page: 338, stat: Journal Article,

Quantitative thermal perception testing in 225 children and juveniles
Hilz MJ; Stemper B; Schweibold G; Neuner I; Grahmann F; Kolodny EH
1998 Nov;15(6):529-534, Journal of clinical neurophysiology
— id: 6043, year: 1998, vol: 15, page: 529, stat: Journal Article,

[Mucolipidosis: clinical and genetic aspects]
Kolodny, E H
1998 Aug;27(156):337-341, Revista de neurologia
— id: 75018, year: 1998, vol: 27, page: 337, stat: Journal Article,

Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy
Krivit W; Shapiro EG; Peters C; Wagner JE; Cornu G; Kurtzberg J; Wenger DA; Kolodny EH; Vanier MT; Loes DJ; Dusenbery K; Lockman LA
1998 Apr 16;338(16):1119-1126, New England journal of medicine
— id: 57184, year: 1998, vol: 338, page: 1119, stat: Journal Article,

Phenotypic genotypic correlation in patients with proteolipid protein gene abnormalities
Marks, HG; Kolodny, EH; Kobayashi, H; Hoffman, E; Graf, WD; Roe, E; Hobson, G
1998 SEP ;44(3):545-545, Annals of neurology
— id: 74944, year: 1998, vol: 44, page: 545, stat: Journal Article,

Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21
Nance, M A; Raabe, W A; Midani, H; Kolodny, E H; David, W S; Megna, L; Pericak-Vance, M A; Haines, J L
1998 May-Jun;48(3):169-178, Human heredity
— id: 75019, year: 1998, vol: 48, page: 169, stat: Journal Article,

Cognitive functioning after pallidotomy for refractory Parkinson's disease [see comments]
Perrine K; Dogali M; Fazzini E; Sterio D; Kolodny E; Eidelberg D; Devinsky O; Beric A
1998 Aug;65(2):150-154, Journal of neurology neurosurgery & psychiatry
— id: 7740, year: 1998, vol: 65, page: 150, stat: Journal Article,

5-Fluorocytosine-mediated apoptosis and DNA damage in glioma cells engineered to express cytosine deaminase and their enhancement with interferon
Wang ZH; Samuels S; Gama Sosa MA; Kolodny EH
1998 Feb;36(3):219-229, Journal of neuro-oncology
— id: 9850, year: 1998, vol: 36, page: 219, stat: Journal Article,

Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene
Bernardini GL; Herrera DG; Carson D; DeGasperi R; Gama Sosa MA; Kolodny EH; Trifiletti R
1997 Jan;41(1):111-114, Annals of neurology
— id: 9852, year: 1997, vol: 41, page: 111, stat: Journal Article,

Tetrahydrobiopterin (BH4): Cofactor for dopamine beta hydroxylase (D beta H)
Dashman, T; Samuels, S; Leshinsky-Silver, E; Kolodny, E; Axelrod, F
1997 JUL 31 ;11(9):A1311-A1311, FASEB journal
— id: 53458, year: 1997, vol: 11, page: A1311, stat: Journal Article,

An alteration in the alpha-chain propeptide is associated with beta-hexosaminidase A pseudodeficiency
De Gasperi, R; Sosa, MAG; Horowitz, M; Mitchell, DA; Lehrerfeld, T; Kolodny, EH
1997 OCT ;61(4):A250-A250, American journal of human genetics
— id: 53607, year: 1997, vol: 61, page: A250, stat: Journal Article,

Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous trait
Dube MP; Mlodzienski MA; Kibar Z; Farlow MR; Ebers G; Harper P; Kolodny EH; Rouleau GA; Figlewicz DA
1997 Mar;60(3):625-629, American journal of human genetics
— id: 18396, year: 1997, vol: 60, page: 625, stat: Journal Article,

Long-term followup of unilateral pallidotomy in patients with Parkinson's disease
Fazzini, E; Beric, A; Eidelberg, D; Stereo, G; Alterman, R; Perrine, K; Dogali, M; Kelly, P; Kolodny, E
1997 MAR;48(3):4101-4101, Neurology
— id: 742172, year: 1997, vol: 48, page: 4101, stat: Journal Article,

Antisulfatide IgG antibodies recognize HIV proteins
Gama Sosa MA; De Gasperi R; Patarca R; Fletcher MA; Kolodny EH
1997 May 1;15(1):83-84, Journal of acquired immune deficiency syndromes & human retrovirology
— id: 8408, year: 1997, vol: 15, page: 83, stat: Journal Article,

Multiple mutations in the galactocerebrosidase gene are associated with a very mild late-onset form of globoid cell leukodystrophy
Kolodny, EH; Sosa, MAG; Battistini, S; Sartorato, E; Raghavan, S; DeGasperi, R
1997 SEP ;42(3):T197-T197, Annals of neurology
— id: 74945, year: 1997, vol: 42, page: T197, stat: Journal Article,

N-acetyl aspartoglutamate metabolism in brain: Application to Canavan disease
Leshinsky, E; Ribeiro, L; Gage, DA; Kolodny, EH
1997 SEP ;69(3):S192-S192, Journal of neurochemistry
— id: 74947, year: 1997, vol: 69, page: S192, stat: Journal Article,

Krabbe's disease presenting as a peripheral neuropathy
Marks, H G; Scavina, M T; Kolodny, E H; Palmieri, M; Childs, J
1997 Aug;20(8):1024-1028, Muscle & nerve
— id: 75020, year: 1997, vol: 20, page: 1024, stat: Journal Article,

A human cell surface protein recognized by a anti-galactosylceramide monoclonal antibody
Sosa, MAG; DeGasperi, R; Battistini, S; Gorman, MP; Kolodny, R; Kolodny, EH
1997 SEP ;69(3):S5-S5, Journal of neurochemistry
— id: 74946, year: 1997, vol: 69, page: S5, stat: Journal Article,

Use of amphotropic recombinant SL3-3 retroviruses in the stable reversion of the Tay-Sachs phenotype in human brain cells
Sosa, MAG; DeGasperi, R; Sugandhi, NS; Lehrerfeld, TJ; Undevia, S; Kolodny, EH
1997 OCT ;61(4):A413-A413, American journal of human genetics
— id: 53618, year: 1997, vol: 61, page: A413, stat: Journal Article,

Correlation of glioma cell regression with inhibition of insulin-like growth factor 1 and insulin-like growth factor-binding protein-2 expression
Wang ZH; Ma J; Zeng BJ; Catanese VM; Samuels S; Gama Sosa MA; Kolodny EH
1997 Sep;66(3):203-211, Neuroendocrinology
— id: 9851, year: 1997, vol: 66, page: 203, stat: Journal Article,

Characteristics of pallidal neuronal discharges in Parkinson's disease patients
Beric A; Sterio D; Dogali M; Fazzini E; Eidelberg D; Kolodny E
1996 ;69:123-128, Advances in neurology
— id: 12696, year: 1996, vol: 69, page: 123, stat: Journal Article,

Late-onset Krabbe disease in galactosylceramide beta-galactosidase compound heterozygotes
Bernardini, GL; Herrera, DG; Carson, D; DeGasperi, R; Sosa, MAG; Kolodny, EH; Trifiletti, RR
1996 AUG ;40(2):56-56, Annals of neurology
— id: 74948, year: 1996, vol: 40, page: 56, stat: Journal Article,

Intrathecal synthesis of anti-sulfatide IgG is associated with peripheral nerve disease in acquired immunodeficiency syndrome
De Gasperi R; Angel M; Sosa G; Patarca R; Battistini S; Lamoreux MR; Raghavan S; Kowall NW; Smith KH; Fletcher MA; Kolodny EH
1996 Feb 10;12(3):205-211, AIDS research & human retroviruses
— id: 6899, year: 1996, vol: 12, page: 205, stat: Journal Article,

Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene
De Gasperi R; Gama Sosa MA; Battistini S; Yeretsian J; Raghavan S; Zelnik N; Leshinsky E; Kolodny EH
1996 Aug;47(2):547-552, Neurology
— id: 9854, year: 1996, vol: 47, page: 547, stat: Journal Article,

Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy [published erratum appears in Am J Hum Genet 1997 May;60(5):1264]
De Gasperi R; Gama Sosa MA; Sartorato EL; Battistini S; MacFarlane H; Gusella JF; Krivit W; Kolodny EH
1996 Dec;59(6):1233-1242, American journal of human genetics
— id: 9853, year: 1996, vol: 59, page: 1233, stat: Journal Article,

Effects of posteroventral pallidotomy on Parkinson's disease
Dogali M; Sterio D; Fazzini E; Kolodny E; Eidelberg D; Beric A
1996 ;69(4):585-590, Advances in neurology
— id: 18386, year: 1996, vol: 69, page: 585, stat: Journal Article,

Three-year follow up following unilateral pallidotomy in Parkinson's disease
Fazzini, E; Dogali, M; Eidelberg, D; Beric, A; Stereo, G; Perrine, K; Kolodny, E
1996 FEB;46(2):2110-2110, Neurology
— id: 742192, year: 1996, vol: 46, page: 2110, stat: Journal Article,

Correction of the galactocerebrosidase deficiency in globoid cell leukodystrophy-cultured cells by SL3-3 retroviral-mediated gene transfer
Gama Sosa MA; de Gasperi R; Undevia S; Yeretsian J; Rouse SC 2nd; Lyerla TA; Kolodny EH
1996 Jan 26;218(3):766-771, Biochemical & biophysical research communications
— id: 8043, year: 1996, vol: 218, page: 766, stat: Journal Article,

The application of laser microprobe mass analysis to the study of biological material
Iancu, T C; Perl, D P; Sternlieb, I; Lerner, A; Leshinsky, E; Kolodny, E H; Hsu, A; Good, P F
1996 Jan;9(1):57-65, Biometals
— id: 75021, year: 1996, vol: 9, page: 57, stat: Journal Article,

Amyloid beta peptides in cerebellar preamyloid and cortical neuritic plaques of Down's syndrome patients
Lalowski, M.; Golabek, A.; Lemere, C. A.; Selkoe, D. J.; Kolodny, E.; Frangione, B.; Wisniewski, T.
1996 ;22(1-3):1208-145, Abstracts (Society for Neuroscience)
— id: 97641, year: 1996, vol: 22, page: 1208, stat: Journal Article,

Neurology of hereditary metabolic diseases of children
Lyon, Gilles; Adams, Raymond D.; Kolodny, Edwin H
New York : McGraw-Hill, Health Professions Division, c1996,
— id: 528, year: 1996, vol: , page: , stat: ,

Heller syndrome in a pre-school boy. Proposed medical evaluation and hypothesized pathogenesis
Russo, M; Ferry, R; Kolodny, E; Gillberg, C
1996 SEP ;5(3):172-177, European child & adolescent psychiatry
— id: 52752, year: 1996, vol: 5, page: 172, stat: Journal Article,

A human kidney cDNA which induces a cell surface protein epitope recognized by a monoclonal antibody against galactosylceramide
Sosa MA; De Gasperi R; Battistini S; Gorman MP; Kolodny R; Kolodny EH
1996 Oct 14;227(2):636-641, Biochemical & biophysical research communications
— id: 12515, year: 1996, vol: 227, page: 636, stat: Journal Article,

Mitochondrial encephalomyopathies presenting with features of autonomic and visceral dysfunction
Zelnik N; Axelrod FB; Leshinsky E; Griebel ML; Kolodny EH
1996 Apr;14(3):251-254, Pediatric neurology
— id: 12624, year: 1996, vol: 14, page: 251, stat: Journal Article,

Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations
Zelnik N; Dobyns WB; Forem SL; Kolodny EH
1996 Oct;38(7):684-687, Neuroradiology
— id: 12525, year: 1996, vol: 38, page: 684, stat: Journal Article,

Substitution of alanine543 with a threonine residue at the carboxy terminal end of the beta-chain is associated with thermolabile hexosaminidase B in a Jewish family of Oriental ancestry
De Gasperi R; Gama Sosa MA; Grebner EE; Mansfield D; Battistini S; Sartorato EL; Raghavan SS; Davis JG; Kolodny EH
1995 Oct;56(1):31-36, Biochemical & molecular medicine
— id: 9855, year: 1995, vol: 56, page: 31, stat: Journal Article,

LATE-ONSET G(M2)-GANGLIOSIDOSIS IN 2 SIBLINGS OF ASHKENAZI JEWISH ANCESTRY RESULTS FROM A MUTATION IN THE HEXA GENE CAUSING ABNORMAL THERMOLABILITY OF HEXOSAMINIDASE-A
DEGASPERI, R; SOSA, MAG; BATTISTINI, S; YERETSIAN, J; KOLODNY, EH
1995 OCT ;57(4):1375-1375, American journal of human genetics
— id: 74951, year: 1995, vol: 57, page: 1375, stat: Journal Article,

Anatomic and physiological considerations in pallidotomy for Parkinson's disease
Dogali M; Beric A; Sterio D; Eidelberg D; Fazzini E; Takikawa S; Samelson DR; Devinsky O; Kolodny EH
1995 ;64:9-12, Acta neurochirurgica. Supplementum
— id: 12822, year: 1995, vol: 64, page: 9, stat: Journal Article,

Stereotactic ventral pallidotomy for Parkinson's disease
Dogali M; Fazzini E; Kolodny E; Eidelberg D; Sterio D; Devinsky O; Beric A
1995 Apr;45(4):753-761, Neurology
— id: 12789, year: 1995, vol: 45, page: 753, stat: Journal Article,

AUTOSOMAL-DOMINANT HEREDITARY SPASTIC PARAPLEGIA - LINKAGE ANALYSIS OF A HETEROGENEOUS TRAIT
DUBE, MP; ROULEAU, GA; KIBAR, Z; FARLOW, MR; EBERS, G; HARPER, P; KOLODNY, EH; BAUMBACH, L; FIGLEWICZ, DA
1995 OCT ;57(4):1093-1093, American journal of human genetics
— id: 74949, year: 1995, vol: 57, page: 1093, stat: Journal Article,

2-YEAR FOLLOW-UP AFTER UNILATERAL PALLIDOTOMY IN PATIENTS WITH PARKINSONS-DISEASE
FAZZINI, E; BERIC, A; EIDELBERG, D; DOGALI, M; STEREO, G; PERRINE, K; KOLODNY, E; KELLY, P
1995 APR;45(4):A376-A377, Neurology
— id: 742232, year: 1995, vol: 45, page: A376, stat: Journal Article,

Mucolipidosis IV: morphology and histochemistry of an autopsy case
Folkerth, R D; Alroy, J; Lomakina, I; Skutelsky, E; Raghavan, S S; Kolodny, E H
1995 Mar;54(2):154-164, Journal of neuropathology & experimental neurology
— id: 75022, year: 1995, vol: 54, page: 154, stat: Journal Article,

SYMPATHETIC SKIN-RESPONSE DIFFERENTIATES HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES TYPE-IV FROM TYPE-III
HILZ, MJ; STEMPER, B; BAER, R; KOLODNY, EH; AXELROD, FB
1995 AUG ;38(2):335-336, Annals of neurology
— id: 74954, year: 1995, vol: 38, page: 335, stat: Journal Article,

ANTISULFATIDE IMMUNOGLOBULIN-G IS ELEVATED IN THE SERUM OF MULTIPLE-SCLEROSIS PATIENTS
KOLODNY, EH; DEGASPERI, R; SOSA, MAG; WEINREB, HJ; HERBERT, J
1995 AUG ;38(2):340-340, Annals of neurology
— id: 74955, year: 1995, vol: 38, page: 340, stat: Journal Article,

MOLECULAR-GENETICS OF LATE-ONSET FORMS OF KRABBES DISEASE
KOLODNY, EH; SOSA, MAG; BATTISTINI, S; DEGASPERI, R
1995 AUG ;38(2):292-293, Annals of neurology
— id: 74953, year: 1995, vol: 38, page: 292, stat: Journal Article,

MOLECULAR-GENETICS OF LATE-ONSET KRABBE DISEASE
KOLODNY, EH; SOSA, MAG; BATTISTINI, S; SARTORATO, EL; YERETSIAN, J; MACFARLANE, H; GUSELLA, J; DEGASPERI, R
1995 OCT ;57(4):1250-1250, American journal of human genetics
— id: 74950, year: 1995, vol: 57, page: 1250, stat: Journal Article,

SUBSTITUTION OF ALANINE(531) WITH A THREONINE RESIDUE AT THE CARBOXY-TERMINAL END OF THE BETA-CHAIN IS ASSOCIATED WITH THERMOLABILE HEXOSAMINIDASE-B IN A JEWISH FAMILY OF ORIENTAL ANCESTRY
SOSA, MAG; DEGASPERI, R; GREBNER, EE; MANSFIELD, D; BATTISTINI, S; SARTORATO, EL; RAGHAVAN, SS; DAVIS, JG; KOLODNY, EH
1995 OCT ;57(4):1386-1386, American journal of human genetics
— id: 74952, year: 1995, vol: 57, page: 1386, stat: Journal Article,

Lysosomal storage disorders in Thailand: the Siriraj experience
Wasant, P; Wattanaweeradej, S; Raksadawan, N; Kolodny, E H
1995 ;26 Suppl 1:54-58, Southeast Asian journal of tropical medicine & public health
— id: 75024, year: 1995, vol: 26 Suppl 1, page: 54, stat: Journal Article,

Familial spastic paraparesis. Is it a mitochondrial disorder?
Zelnik, N; Leshinsky, E; Kolodny, E H
1995 ;23(4):225-226, Pediatric neurosurgery
— id: 75023, year: 1995, vol: 23, page: 225, stat: Journal Article,

Anatomic and physiological considerations in pallidotomy for Parkinson's disease
Dogali M; Beric A; Sterio D; Eidelberg D; Fazzini E; Takikawa S; Samelson DR; Devinsky O; Kolodny EH
1994 ;62(1-4):53-60, Stereotactic & functional neurosurgery
— id: 13043, year: 1994, vol: 62, page: 53, stat: Journal Article,

UNILATERAL VENTRAL PALLIDOTOMY IN PATIENTS WITH PARKINSONS-DISEASE - ONE-YEAR FOLLOW-UP
FAZZINI, E; DOGALI, M; BERICH, A; EIDELBERG, D; GIANUTSOS, J; STEREO, G; PERRINE, K; LOFTUS, S; CHIN, L; KOLODNY, E
1994 APR;44(4):A323-A323, Neurology
— id: 742262, year: 1994, vol: 44, page: A323, stat: Journal Article,

CANAVAN-DISEASE IN COMPOUND HETEROZYGOTE WITH NOVEL MUTATION (C-914-]A) IN ASPARTOACYLASE GENE (VOL 11, PG 145, 1994)
KOLODNY, EH; SOSA, MAG; LESHINSKY, E; DWYER, D; BATTISTINI, S; DEGASPERI, R
1994 NOV ;11(4):349-349, Pediatric neurology
— id: 74956, year: 1994, vol: 11, page: 349, stat: Journal Article,

VENTRAL PALLIDOTOMY OPERATIONS IN PATIENTS WITH PARKINSONS PLUS SYNDROMES - LACK OF SIGNIFICANT SYMPTOMATIC BENEFIT
FAZZINI, E; DOGALI, M; BERICH, A; CHIN, L; EIDELBERG, D; STEREO, G; SAMELSON, D; LOFTUS, S; GIANUTSOS, J; NEWMAN, B; KOLODNY, E; LAITINEN, L
1993 AUG;34(2):266-266, Annals of neurology
— id: 742322, year: 1993, vol: 34, page: 266, stat: Journal Article,

LONG-TERM FOLLOW-UP ON PATIENTS WITH PARKINSONS-DISEASE RECEIVING UNILATERAL VENTROPOSTERIOR MEDIAL PALLIDOTOMY
FAZZINI, E; DOGALI, M; EIDELBERG, D; GIANUTSOS, J; NEWMAN, B; BERIC, A; STEREO, G; KOLODNY, E
1993 APR;43(4):A222-A222, Neurology
— id: 742332, year: 1993, vol: 43, page: A222, stat: Journal Article,

Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients
Horowitz, M; Tzuri, G; Eyal, N; Berebi, A; Kolodny, E H; Brady, R O; Barton, N W; Abrahamov, A; Zimran, A
1993 Oct;53(4):921-930, American journal of human genetics
— id: 75025, year: 1993, vol: 53, page: 921, stat: Journal Article,

Dysmyelinating and demyelinating conditions in infancy
Kolodny EH
1993 Jun;6(3):379-386, Current opinion in neurology & neurosurgery
— id: 13140, year: 1993, vol: 6, page: 379, stat: Journal Article,

ANTISULFATIDE IGG AS A MARKER FOR POTENTIAL NEURODEGENERATION IN HIV-SEROPOSITIVE INDIVIDUALS
KOLODNY, EH; DEGASPERI, R; GAMA, MA; RAGHAVAN, S
1993 APR ;43(4):A187-A187, Neurology
— id: 74957, year: 1993, vol: 43, page: A187, stat: Journal Article,

Fabry disease: immunocytochemical characterization of neuronal involvement
deVeber, G A; Schwarting, G A; Kolodny, E H; Kowall, N W
1992 Apr;31(4):409-415, Annals of neurology
— id: 75027, year: 1992, vol: 31, page: 409, stat: Journal Article,

Possible use of CSF glycosphingolipids for the diagnosis and therapeutic monitoring of lysosomal storage diseases
Kaye, E M; Ullman, M D; Kolodny, E H; Krivit, W; Rischert, J C
1992 Dec;42(12):2290-2294, Neurology
— id: 75026, year: 1992, vol: 42, page: 2290, stat: Journal Article,

Electroconvulsive therapy treatment of depression in a patient with adult GM2 gangliosidosis
Renshaw, P F; Stern, T A; Welch, C; Schouten, R; Kolodny, E H
1992 Mar;31(3):342-344, Annals of neurology
— id: 75028, year: 1992, vol: 31, page: 342, stat: Journal Article,

Three unique base pair changes in a family with Gaucher disease
Eyal, N; Firon, N; Wilder, S; Kolodny, E H; Horowitz, M
1991 Jul;87(3):328-332, Human genetics
— id: 75030, year: 1991, vol: 87, page: 328, stat: Journal Article,

Late-onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features of 15 cases
Kolodny, E H; Raghavan, S; Krivit, W
1991 ;13(4-5):232-239, Developmental neuroscience
— id: 75032, year: 1991, vol: 13, page: 232, stat: Journal Article,

Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency
Kvedar, J C; Baden, H P; Baden, L A; Shih, V E; Kolodny, E H
1991 Aug 1;40(2):211-213, American journal of medical genetics
— id: 75029, year: 1991, vol: 40, page: 211, stat: Journal Article,

Molecular aspects of Gaucher disease
Levy, H; Or, A; Eyal, N; Wilder, S; Widgerson, M; Kolodny, E H; Zimran, A; Horowitz, M
1991 ;13(4-5):352-362, Developmental neuroscience
— id: 75031, year: 1991, vol: 13, page: 352, stat: Journal Article,

Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene
Firon, N; Eyal, N; Kolodny, E H; Horowitz, M
1990 Mar;46(3):527-532, American journal of human genetics
— id: 75036, year: 1990, vol: 46, page: 527, stat: Journal Article,

Mutation analysis of an Ashkenazi Jewish family with Gaucher disease in three successive generations
Kolodny, E H; Firon, N; Eyal, N; Horowitz, M
1990 Aug;36(4):467-472, American journal of medical genetics
— id: 75033, year: 1990, vol: 36, page: 467, stat: Journal Article,

Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect
Navon, R; Kolodny, E H; Mitsumoto, H; Thomas, G H; Proia, R L
1990 Apr;46(4):817-821, American journal of human genetics
— id: 75035, year: 1990, vol: 46, page: 817, stat: Journal Article,

Corneal surface irregularities and episodic pain in a patient with mucolipidosis IV
Newman, N J; Starck, T; Kenyon, K R; Lessell, S; Fish, I; Kolodny, E H
1990 Feb;108(2):251-254, Archives of ophthalmology (1960)
— id: 75037, year: 1990, vol: 108, page: 251, stat: Journal Article,

HEXOSAMINIDASE PSEUDODEFICIENCY - REPLY
PROIA, RL; KOLODNY, EH; NAVON, R
1990 NOV ;47(5):881-882, American journal of human genetics
— id: 74958, year: 1990, vol: 47, page: 881, stat: Journal Article,

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients
Tanaka, A; Ohno, K; Sandhoff, K; Maire, I; Kolodny, E H; Brown, A; Suzuki, K
1990 Feb;46(2):329-339, American journal of human genetics
— id: 75038, year: 1990, vol: 46, page: 329, stat: Journal Article,

Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests
Triggs-Raine, B L; Feigenbaum, A S; Natowicz, M; Skomorowski, M A; Schuster, S M; Clarke, J T; Mahuran, D J; Kolodny, E H; Gravel, R A
1990 Jul 5;323(1):6-12, New England journal of medicine
— id: 75034, year: 1990, vol: 323, page: 6, stat: Journal Article,

Animal models for lysosomal storage diseases: their past and future contribution
Alroy, J; Warren, C D; Raghavan, S S; Kolodny, E H
1989 Sep;20(9):823-826, Human pathology
— id: 75039, year: 1989, vol: 20, page: 823, stat: Journal Article,

Early cerebellar degeneration in twins with infantile neuroaxonal dystrophy
Barlow, J K; Sims, K B; Kolodny, E H
1989 Apr;25(4):413-415, Annals of neurology
— id: 75041, year: 1989, vol: 25, page: 413, stat: Journal Article,

Neurological progress. The neuronal ceroid lipofuscinoses: a review
Boustany, R M; Kolodny, E H
1989 ;145(2):105-110, Revue neurologique
— id: 75043, year: 1989, vol: 145, page: 105, stat: Journal Article,

Agenesis of the corpus callosum: a marker for inherited metabolic disease?
Kolodny, E H
1989 Jun;39(6):847-848, Neurology
— id: 75040, year: 1989, vol: 39, page: 847, stat: Journal Article,

Familial spastic paraplegia: clinical observations and genetic studies
Kolodny, E H; Boustany, R M; Rouleau, G A; Growden, J H; Martin, J B
1989 ;306:205-211, Progress in clinical & biological research
— id: 75042, year: 1989, vol: 306, page: 205, stat: Journal Article,

NEURONAL CEROID LIPOFUSCINOSIS - CLINICAL AND PATHOLOGICAL CHARACTERISTICS IN A REVIEW OF 262 CASES
PATXOT, OF; WISNIEWSKI, KE; KITAGUCHI, T; DYKEN, P; PHILIPPART, M; KOLODNY, EH
1989 SEP ;26(3):467-468, Annals of neurology
— id: 74959, year: 1989, vol: 26, page: 467, stat: Journal Article,

Clinical classification of neuronal ceroid-lipofuscinosis subtypes
Boustany, R M; Alroy, J; Kolodny, E H
1988 ;5:47-58, American journal of medical genetics. Supplement
— id: 75047, year: 1988, vol: 5, page: 47, stat: Journal Article,

GEOGRAPHIC-DISTRIBUTION AND ETHNIC-BACKGROUND OF PERSONS WITH NEURONAL CEROID LIPOFUSCINOSIS IN THE UNITED-STATES
BOUSTANY, RMN; MECSAS, S; KOLODNY, EH
1988 AUG ;24(2):307-308, Annals of neurology
— id: 74960, year: 1988, vol: 24, page: 307, stat: Journal Article,

Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation
Kaye, E M; Kolodny, E H; Logigian, E L; Ullman, M D
1988 May;23(5):505-509, Annals of neurology
— id: 75045, year: 1988, vol: 23, page: 505, stat: Journal Article,

Infantile sialic acid storage disease associated with renal disease
Pueschel, S M; O'Shea, P A; Alroy, J; Ambler, M W; Dangond, F; Daniel, P F; Kolodny, E H
1988 Jul-Aug;4(4):207-212, Pediatric neurology
— id: 75044, year: 1988, vol: 4, page: 207, stat: Journal Article,

Characterization of alpha-mannosidase in feline mannosidosis
Raghavan, S; Stuer, G; Riviere, L; Alroy, J; Kolodny, E H
1988 ;11(1):3-16, Journal of inherited metabolic disease
— id: 75048, year: 1988, vol: 11, page: 3, stat: Journal Article,

Gaucher-like changes in human blood-derived macrophages induced by beta-glucocerebrosidase inhibition
Yatziv, S; Newburg, D S; Livni, N; Barfi, G; Kolodny, E H
1988 Apr;111(4):416-420, Journal of laboratory & clinical medicine
— id: 75046, year: 1988, vol: 111, page: 416, stat: Journal Article,

Biochemical, ultrastructural and histochemical studies of cat placentae deficient in activity of lysosomal alpha-mannosidase
Alroy, J; Warren, C D; Raghavan, S S; Daniel, P F; Schunk, K L; Kolodny, E H
1987 Sep-Oct;8(5):545-553, Placenta
— id: 75049, year: 1987, vol: 8, page: 545, stat: Journal Article,

COMPUTED TOMOGRAPHIC AND MAGNETIC IMAGING IN TWINS WITH NEUROAXONAL DYSTROPHY
BARLOW, JK; SIMS, KB; KOLODNY, EH
1987 SEP ;22(3):444-445, Annals of neurology
— id: 74962, year: 1987, vol: 22, page: 444, stat: Journal Article,

The autosomal dominant form of "pure" familial spastic paraplegia: clinical findings and linkage analysis of a large pedigree
Boustany, R M; Fleischnick, E; Alper, C A; Marazita, M L; Spence, M A; Martin, J B; Kolodny, E H
1987 Jun;37(6):910-915, Neurology
— id: 75050, year: 1987, vol: 37, page: 910, stat: Journal Article,

ADULT-ONSET KRABBES DISEASE - CLINICAL AND BIOCHEMICAL FEATURES OF AN UNUSUAL CASE
BOUSTANY, RM; RISKIND, P; RAGHAVAN, S; KOLODNY, EH
1987 JUL ;22(1):167-168, Annals of neurology
— id: 74963, year: 1987, vol: 22, page: 167, stat: Journal Article,

DETERMINATION BY HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY OF CEREBROSPINAL-FLUID GANGLIOSIDES IN GM1 AND GM2 GANGLIOSIDOSES
KAYE, EM; KOLODNY, EH; ULLMAN, MD
1987 SEP ;22(3):444-444, Annals of neurology
— id: 74961, year: 1987, vol: 22, page: 444, stat: Journal Article,

The adrenoleukodystrophy-adrenomyeloneuropathy complex: is it treatable?
Kolodny, E H
1987 Mar;21(3):230-231, Annals of neurology
— id: 75052, year: 1987, vol: 21, page: 230, stat: Journal Article,

PSYCHIATRIC MANIFESTATIONS OF ADULT-ONSET STORAGE DISEASES
KOLODNY, EH
1987 MAY-JUN ;32(1-2):624-624, International journal of neuroscience
— id: 74964, year: 1987, vol: 32, page: 624, stat: Journal Article,

Metabolic activities in human skin fibroblasts preloaded with labeled GM2-ganglioside
Raghavan, S; Lyerla, T A; Krusell, A; Kolodny, E H
1987 Jan 13;917(1):42-47, Biochimica & biophysica acta
— id: 75053, year: 1987, vol: 917, page: 42, stat: Journal Article,

Niemann-Pick variant lipodosis presenting as "neonatal hepatitis"
Semeraro, L A; Riely, C A; Kolodny, E H; Dickerson, G R; Gryboski, J D
1987 May-Jun;6(3):480-481, Journal of pediatric gastroenterology & nutrition
— id: 75051, year: 1987, vol: 6, page: 480, stat: Journal Article,

Pathologic findings in fetal GM1 gangliosidosis
Bieber, F R; Mortimer, G; Kolodny, E H; Driscoll, S G
1986 Jul;43(7):736-738, Archives of neurology
— id: 75055, year: 1986, vol: 43, page: 736, stat: Journal Article,

COMPARISON OF MAGNETIC-RESONANCE-IMAGING AND CT SCAN FINDINGS IN 2 SISTERS WITH JUVENILE NEURONAL CEROID LIPOFUSCINOSIS
BOUSTANY, RMN; FILIPEK, PA; CAVINESS, VS; KOLODNY, EH
1986 SEP ;20(3):441-441, Annals of neurology
— id: 74965, year: 1986, vol: 20, page: 441, stat: Journal Article,

STORAGE DISEASES OF ADULT ONSET ARE COMMON AMONG BIOCHEMICALLY DIAGNOSED NEUROGENETIC DISORDERS (3-YEAR EXPERIENCE OF A LYSOSOMAL STORAGE DISEASE LABORATORY)
BOUSTANY, RMN; KOLODNY, EH
1986 APR ;36(4):78-78, Neurology
— id: 74966, year: 1986, vol: 36, page: 78, stat: Journal Article,

Lysosomal enzymes in chorionic villi, cultured amniocytes, and cultured skin fibroblasts
Evans MI; Moore C; Kolodny EH; Casassa M; Schulman JD; Landsberger EJ; Karson EM; Dorfmann AD; Larsen JW Jr; Barranger JA
1986 May 30;157(1):109-113, Clinica chimica acta
— id: 23053, year: 1986, vol: 157, page: 109, stat: Journal Article,

Two abnormalities of hexosaminidase A in clinically normal individuals
Grebner, E E; Mansfield, D A; Raghavan, S S; Kolodny, E H; d'Azzo, A; Neufeld, E F; Jackson, L G
1986 Apr;38(4):505-514, American journal of human genetics
— id: 75058, year: 1986, vol: 38, page: 505, stat: Journal Article,

Early detection of lysosomal storage diseases
Kolodny, E H
1986 ;477:312-320, Annals of the New York Academy of Sciences
— id: 75060, year: 1986, vol: 477, page: 312, stat: Journal Article,

Myoclonus epilepsy in two brothers. Clinical features and neuropathology of a unique syndrome
Logigian, E L; Kolodny, E H; Griffith, J F; Filipek, P A; Richardson, E P Jr
1986 Jun;109 ( Pt 3):411-429, Brain
— id: 75056, year: 1986, vol: 109 ( Pt 3), page: 411, stat: Journal Article,

Macular halos associated with Niemann-Pick type B disease
Matthews, J D; Weiter, J J; Kolodny, E H
1986 Jul;93(7):933-937, Ophthalmology
— id: 75054, year: 1986, vol: 93, page: 933, stat: Journal Article,

Niemann-Pick variant lipidosis presenting as "neonatal hepatitis"
Semeraro, L A; Riely, C A; Kolodny, E H; Dickerson, G R; Gryboski, J D
1986 May-Jun;5(3):492-500, Journal of pediatric gastroenterology & nutrition
— id: 75057, year: 1986, vol: 5, page: 492, stat: Journal Article,

Oligosaccharides from placenta: early diagnosis of feline mannosidosis
Warren, C D; Alroy, J; Bugge, B; Daniel, P F; Raghavan, S S; Kolodny, E H; Lamar, J J; Jeanloz, R W
1986 Jan 20;195(1-2):247-252, FEBS letters
— id: 75059, year: 1986, vol: 195, page: 247, stat: Journal Article,

Neurovisceral and skeletal GM1-gangliosidosis in dogs with beta-galactosidase deficiency
Alroy, J; Orgad, U; Ucci, A A; Schelling, S H; Schunk, K L; Warren, C D; Raghavan, S S; Kolodny, E H
1985 Aug 2;229(4712):470-472, Science
— id: 75062, year: 1985, vol: 229, page: 470, stat: Journal Article,

LECTIN HISTOCHEMISTRY OF GLYCOLIPID STORAGE DISEASES ON FROZEN AND PARAFFIN SECTIONS
ALROY, J; UCCI, AA; RAGHAVAN, SS; KOLODNY, EH
1985 NOV ;44(3):351-351, Journal of neuropathology & experimental neurology
— id: 74969, year: 1985, vol: 44, page: 351, stat: Journal Article,

Peroxisomes in fibroblasts from skin of Refsum's disease patients
Beard, M E; Sapirstein, V; Kolodny, E H; Holtzman, E
1985 May;33(5):480-484, Journal of histochemistry & cytochemistry
— id: 75063, year: 1985, vol: 33, page: 480, stat: Journal Article,

Laboratory approaches for inherited neurometabolic diseases
Kolodny, E H; Yatziv, S
1985 Apr;27(2):252-257, Developmental medicine & child neurology
— id: 75065, year: 1985, vol: 27, page: 252, stat: Journal Article,

LINKAGE RELATIONS OF PLG (PLASMINOGEN)
MARAZITA, ML; SPENCE, MA; BOUSTANY, RM; FLEISHNICK, E; MARTIN, JB; KOLODNY, EH
1985 NOV ;40(1-4):689-689, Cytogenetics & cell genetics
— id: 74967, year: 1985, vol: 40, page: 689, stat: Journal Article,

GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures
Raghavan, S S; Krusell, A; Krusell, J; Lyerla, T A; Kolodny, E H
1985 Nov;37(6):1071-1082, American journal of human genetics
— id: 75061, year: 1985, vol: 37, page: 1071, stat: Journal Article,

GM2-ganglioside metabolism in cultured human skin fibroblasts: unambiguous diagnosis of GM2-gangliosidosis
Raghavan, S; Krusell, A; Lyerla, T A; Bremer, E G; Kolodny, E H
1985 Apr 25;834(2):238-248, Biochimica & biophysica acta
— id: 75064, year: 1985, vol: 834, page: 238, stat: Journal Article,

Ocular abnormalities in mucolipidosis IV
Riedel, K G; Zwaan, J; Kenyon, K R; Kolodny, E H; Hanninen, L; Albert, D M
1985 Feb 15;99(2):125-136, American journal of ophthalmology
— id: 75066, year: 1985, vol: 99, page: 125, stat: Journal Article,

NEUROVISCERAL AND SKELETAL GM1-GANGLIOSIDOSIS
SCHELLING, SH; ORGAD, U; GARVIS, VE; UCCI, AA; SCHUNK, K; CASASSA, MMK; RAGHAVAN, S; WARREN, C; KOLODNY, EH; ALROY, J
1985 NOV ;52(1):A59-A59, Laboratory investigation
— id: 74970, year: 1985, vol: 52, page: A59, stat: Journal Article,

LECTIN HISTOCHEMISTRY OF GLOBOID-CELLS IN HUMAN AND ANIMALS WITH GLOBOID LEUKODYSTROPHY
UCCI, AA; ALROY, J; RAGHAVAN, SS; KOLODNY, EH
1985 NOV ;44(3):351-351, Journal of neuropathology & experimental neurology
— id: 74968, year: 1985, vol: 44, page: 351, stat: Journal Article,

Diagnosis of pseudo-arylsulfatase A deficiency with electrophoretic techniques
Chang, P L; Rosa, N E; Varey, P A; Kihara, H; Kolodny, E H; Davidson, R G
1984 Oct;18(10):1042-1045, Pediatric research
— id: 75067, year: 1984, vol: 18, page: 1042, stat: Journal Article,

Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency
d'Azzo, A; Proia, R L; Kolodny, E H; Kaback, M M; Neufeld, E F
1984 Sep 10;259(17):11070-11074, Journal of biological chemistry
— id: 75068, year: 1984, vol: 259, page: 11070, stat: Journal Article,

A 47-YEAR-OLD MAN WITH CORONARY-ARTERY DISEASE AND VARIABLE NEUROLOGIC ABNORMALITIES - FABRYS-DISEASE (ALPHA-GALACTOSIDASE-A DEFICIENCY), WITH INVOLVEMENT OF NERVOUS-SYSTEM AND BLOOD-VESSELS, WITH CEREBRAL, MYOCARDIAL, AND RENAL INFARCTS
DAWSON, DM; MILLER, DC; ADAMS, RD; MARK, EJ; KUTER, DJ; KOLODNY, EH; HALPERIN, JJ
1984 NOV ;310(2):106-114, New England journal of medicine
— id: 74973, year: 1984, vol: 310, page: 106, stat: Journal Article,

Jejunal diverticulosis with perforation as a complication of Fabry's disease
Friedman, L S; Kirkham, S E; Thistlethwaite, J R; Platika, D; Kolodny, E H; Schuffler, M D
1984 Mar;86(3):558-563, Gastroenterology
— id: 75070, year: 1984, vol: 86, page: 558, stat: Journal Article,

Communicating hydrocephalus and lysosomal inclusions in mannosidosis
Halperin JJ; Landis DM; Weinstein LA; Lott IT; Kolodny EH
1984 Jul;41(7):777-779, Archives of neurology
— id: 65106, year: 1984, vol: 41, page: 777, stat: Journal Article,

Biomedical genetics of the inherited metabolic diseases: the GM2-gangliosidoses
Kolodny, E H
1984 Mar;88(5):582-589, American journal mental dificiency
— id: 75069, year: 1984, vol: 88, page: 582, stat: Journal Article,

THE EUNICE-KENNEDY-SHRIVER-CENTER
KOLODNY, EH
1984 NOV ;88(5):580-581, American journal mental dificiency
— id: 74972, year: 1984, vol: 88, page: 580, stat: Journal Article,

HYDROPS FETALIS IN GAUCHERS-DISEASE
RICE, GE; MOSTOUFIZADEH, M; KOLODNY, EH; DRISCOLL, SG
1984 NOV ;29(2):A53-A54, Teratology
— id: 74971, year: 1984, vol: 29, page: A53, stat: Journal Article,

BIOSYNTHESIS, ASSEMBLY AND MATURATION OF BETA-HEXOSAMINIDASE IN VARIANTS OF TAY-SACHS DISEASE
DAZZO, A; PROIA, RL; KOLODNY, EH; KABACK, MM; NEUFELD, EF
1983 NOV ;35(6):A40-A40, American journal of human genetics
— id: 74974, year: 1983, vol: 35, page: A40, stat: Journal Article,

NEURONAL CEROID LIPOFUSCINOSIS - A DIAGNOSTIC-APPROACH
FINKEL, RS; BRESNAN, MJ; KOLODNY, EH; SOTREL, A; FULTON, AB
1983 NOV ;14(3):366-366, Annals of neurology
— id: 74977, year: 1983, vol: 14, page: 366, stat: Journal Article,

Impaired cerebroside sulfate hydrolysis in fibroblasts of sibs with "pseudo" arylsulfatase A deficiency without metachromatic leukodystrophy
Hreidarsson, S J; Thomas, G H; Kihara, H; Fluharty, A L; Kolodny, E H; Moser, H W; Reynolds, L W
1983 Sep;17(9):701-704, Pediatric research
— id: 75071, year: 1983, vol: 17, page: 701, stat: Journal Article,

GM2-GANGLIOSIDOSIS - HEXOSAMINIDASE MUTATIONS NOT OF THE TAY-SACHS TYPE PRODUCE UNUSUAL CLINICAL VARIANTS
KOLODNY, EH; RAGHAVAN, SS
1983 NOV ;6(1):16-20, Trends in neurosciences
— id: 74978, year: 1983, vol: 6, page: 16, stat: Journal Article,

MIS-DIAGNOSIS IN A FETUS WITH AN UNSTABLE HEXOSAMINIDASE A CATALYTICALLY IN-ACTIVE TOWARD GM2-GANGLIOSIDE
KOLODNY, EH; RAGHAVAN, SS; LYERLA, TA; PROIA, RL; NEUFELD, EF; GREBNER, EE
1983 NOV ;35(6):A47-A47, American journal of human genetics
— id: 74975, year: 1983, vol: 35, page: A47, stat: Journal Article,

A 41-YEAR-OLD WOMAN WITH SPASTIC TETRAPARESIS AND SHORT STATURE - MUCOPOLYSACCHARIDOSIS, TYPE-VI, MILD FORM (MAROTEAUX-LAMY SYNDROME)
POSER, CM; SOBEL, RA; HALPERIN, JJ; OOT, RF; SCULLY, RE; DELONG, GR; OJEMANN, RG; KOLODNY, EH
1983 NOV ;309(18):1109-1117, New England journal of medicine
— id: 74976, year: 1983, vol: 309, page: 1109, stat: Journal Article,

Fabry disease: significance of ultrastructural localization of lipid inclusions in dermal nerves
Cable, W J; Dvorak, A M; Osage, J E; Kolodny, E H
1982 Apr;32(4):347-353, Neurology
— id: 75075, year: 1982, vol: 32, page: 347, stat: Journal Article,

Fabry disease: impaired autonomic function
Cable, W J; Kolodny, E H; Adams, R D
1982 May;32(5):498-502, Neurology
— id: 75074, year: 1982, vol: 32, page: 498, stat: Journal Article,

Fabry disease: detection of heterozygotes by examination of glycolipids in urinary sediment
Cable, W J; McCluer, R H; Kolodny, E H; Ullman, M D
1982 Oct;32(10):1139-1145, Neurology
— id: 75072, year: 1982, vol: 32, page: 1139, stat: Journal Article,

AUTONOMIC DYSFUNCTION IN ADRENOMYELONEUROPATHY
CABLE, WJ; KOLODNY, EH
1982 NOV ;32(4):A216-A216, Neurology
— id: 74981, year: 1982, vol: 32, page: A216, stat: Journal Article,

A micromethod for the detection of arylsulfatases A and B in cultured fibroblasts and amniocytes
Gravel, R A; Leung, A; Tsui, F; Kolodny, E H
1982 Jan 15;119(2):360-364, Analytical biochemistry
— id: 75078, year: 1982, vol: 119, page: 360, stat: Journal Article,

Microcephaly vera, progressive motor neuron disease, and nigral degeneration
Halperin JJ; Williams RS; Kolodny EH
1982 Mar;32(3):317-320, Neurology
— id: 65111, year: 1982, vol: 32, page: 317, stat: Journal Article,

CEREBROSPINAL-FLUID GLYCOLIPIDS IN KRABBE DISEASE
KAYE, EM; KOLODNY, EH; ULLMAN, MD
1982 NOV ;32(4):A122-A122, Neurology
— id: 74980, year: 1982, vol: 32, page: A122, stat: Journal Article,

Inborn errors of metabolism
Kolodny, E H; Cable, W J
1982 Mar;11(3):221-232, Annals of neurology
— id: 75077, year: 1982, vol: 11, page: 221, stat: Journal Article,

Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients
Kolodny, E H; Ullman, M D; Mankin, H J; Raghavan, S S; Topol, J; Sullivan, J L
1982 ;95:33-65, Progress in clinical & biological research
— id: 75079, year: 1982, vol: 95, page: 33, stat: Journal Article,

SIGNIFICANCE OF HEXOSAMINIDASE-A DEFICIENCY IN ADULTS
KOLODNY, EH; LYERLA, T; RAGHAVAN, SS; SEASHORE, G; FOGELSON, H; POPE, HG
1982 NOV ;32(4):A81-A82, Neurology
— id: 74979, year: 1982, vol: 32, page: A81, stat: Journal Article,

The early laboratory diagnosis of mucopolysaccharidoses
Lorincz, A E; Hurst, R E; Kolodny, E H
1982 Jul-Aug;12(4):258-266, Annals of clinical & laboratory science
— id: 75073, year: 1982, vol: 12, page: 258, stat: Journal Article,

Nonuniform deficiency of hexosaminidase A in tissues and fluids of two unrelated individuals
Thomas, G H; Raghavan, S; Kolodny, E H; Frisch, A; Neufeld, E F; O'Brien, J S; Reynolds, L W; Miller, C S; Shapiro, J; Kazazian, H H Jr; Heller, R H
1982 Mar;16(3):232-237, Pediatric research
— id: 75076, year: 1982, vol: 16, page: 232, stat: Journal Article,

FAMILIAL DYSAUTONOMIA VARIANT IN A MIDDLE-AGED MALE OF JEWISH ANCESTRY
CABLE, WJL; KOLODNY, EH; GROWDON, JH; ADAMS, RD
1981 NOV ;31(4):98-99, Neurology
— id: 74986, year: 1981, vol: 31, page: 98, stat: Journal Article,

HPLC ANALYSIS OF URINARY SEDIMENT GLYCOLIPIDS IN OBLIGATE CARRIERS OF FABRY DISEASE
CABLE, WJL; KOLODNY, EH; MCCLUER, RH; ULLMAN, MD
1981 NOV ;31(4):86-86, Neurology
— id: 74985, year: 1981, vol: 31, page: 86, stat: Journal Article,

Diagnostic electron microscopy. II. Fabry's disease: use of biopsies from uninvolved skin. Acute and chronic changes involving the microvasculature and small unmyelinated nerves
Dvorak, A M; Cable, W J; Osage, J E; Kolodny, E H
1981 ;16 Pt 1:139-158, Pathology annual
— id: 75081, year: 1981, vol: 16 Pt 1, page: 139, stat: Journal Article,

PROPOSED REGISTRY FOR LYSOSOMAL STORAGE DISEASES
KOLODNY, EH
1981 NOV ;33(6):A8-A8, American journal of human genetics
— id: 74982, year: 1981, vol: 33, page: A8, stat: Journal Article,

LOW SULFATIDASE ACTIVITY AND DEMYELINATING DISEASE
KOLODNY, EH; RAGHAVAN, SS; LOTT, IT; SERGAY, SM
1981 NOV ;31(4):86-86, Neurology
— id: 74984, year: 1981, vol: 31, page: 86, stat: Journal Article,

Leukocyte sulfatidase for the reliable diagnosis of metachromatic leukodystrophy
Raghavan, S S; Gajewski, A; Kolodny, E H
1981 Feb;36(2):724-731, Journal of neurochemistry
— id: 75080, year: 1981, vol: 36, page: 724, stat: Journal Article,

RETINAL-PIGMENT EPITHELIAL DEGENERATION AND ARYLSULFATASE-A DEFICIENCY - REPLY
WEITER, JJ; KOLODNY, EH; FEINGOLD, M; RAGHAVEN, SS
1981 NOV ;92(1):137-138, American journal of ophthalmology
— id: 74983, year: 1981, vol: 92, page: 137, stat: Journal Article,

Incorporation of glucosamine by activated human neutrophils. A myeloperoxidase-mediated process
Bearman, S I; Schwarting, G A; Kolodny, E H; Babior, B M
1980 Nov;96(5):893-902, Journal of laboratory & clinical medicine
— id: 75083, year: 1980, vol: 96, page: 893, stat: Journal Article,

FABRY DISEASE - A CLINICAL DEMONSTRATION OF IMPAIRED AUTONOMIC FUNCTION
CABLE, WJL; KOLODNY, EH; ADAMS, RD
1980 NOV ;30(4):352-352, Neurology
— id: 74992, year: 1980, vol: 30, page: 352, stat: Journal Article,

FABRY DISEASE - SIGNIFICANCE OF ULTRASTRUCTURAL-LOCALIZATION OF LIPID INCLUSIONS IN DERMAL NERVES
CABLE, WJL; KOLODNY, EH; DVORAK, AM
1980 NOV ;30(4):352-353, Neurology
— id: 74993, year: 1980, vol: 30, page: 352, stat: Journal Article,

A light and electron microscopic study of mannosidosis
Dickersin, G R; Lott, I T; Kolodny, E H; Dvorak, A M
1980 May;11(3):245-256, Human pathology
— id: 75087, year: 1980, vol: 11, page: 245, stat: Journal Article,

CONGENITAL MICROCEPHALY WITH PROGRESSIVE MOTOR NEURON DISEASE AND NIGRAL DEGENERATION
HALPERIN, JJ; WILLIAMS, RS; KOLODNY, EH
1980 NOV ;30(4):353-353, Neurology
— id: 74994, year: 1980, vol: 30, page: 353, stat: Journal Article,

LATE-ONSET GLOBOID-CELL LEUKODYSTROPHY
KOLODNY, EH; ADAMS, RD; HALLER, JS; JOSEPH, J; CRUMRINE, PK; RAGHAVAN, SS
1980 NOV ;8(2):219-219, Annals of neurology
— id: 74989, year: 1980, vol: 8, page: 219, stat: Journal Article,

AB VARIANT OF GM2 GANGLIOSIDOSIS - DIAGNOSIS BY INVIVO ASSAY OF GM2 CLEAVING ACTIVITY IN CULTURED SKIN FIBROBLASTS
KOLODNY, EH; RAGHAVAN, SS; ELLISON, PH; LYERLA, TA; BREMER, EG
1980 NOV ;8(2):215-215, Annals of neurology
— id: 74987, year: 1980, vol: 8, page: 215, stat: Journal Article,

FUCOSIDOSIS PRESENTING AS A LEUKODYSTROPHY
KOLODNY, EH; SOTREL, A; CABLE, W; LACSON, A; BRESNAN, MJ; DANIEL, P; WILLIAMS, R; EVANS, J; CROCKER, AC
1980 NOV ;8(1):114-114, Annals of neurology
— id: 74990, year: 1980, vol: 8, page: 114, stat: Journal Article,

Carbonic anhydrase and 2',3' cyclic nucleotide 3'-phosphohydrolase activity in normal human brain and in demyelinating diseases
Lees, M B; Sapirstein, V S; Reiss, D S; Kolodny, E H
1980 Jul;30(7 Pt 1):719-725, Neurology
— id: 75086, year: 1980, vol: 30, page: 719, stat: Journal Article,

Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease
Raghavan, S S; Topol, J; Kolodny, E H
1980 Mar;32(2):158-173, American journal of human genetics
— id: 75089, year: 1980, vol: 32, page: 158, stat: Journal Article,

SIMILARITY OF ACID BETA-XYLOSIDASE TO ACID BETA-GLUCOSIDASE-DEFICIENCY IN GAUCHER DISEASE
RAGHAVAN, SS; TOPOL, J; KOLODNY, EH
1980 NOV ;39(6):2185-2185, Federation proceedings (Federation of American Societies for Experimental Biology)
— id: 74991, year: 1980, vol: 39, page: 2185, stat: Journal Article,

Carbohydrate metabolism in phenylketonuria
Stewart, R M; Hemli, S; Kolodny, E H; Miller, A L; Pallotta, J A
1980 Jul;14(7):849-853, Pediatric research
— id: 75085, year: 1980, vol: 14, page: 849, stat: Journal Article,

Application of "high-performance" liquid chromatography to the study of sphingolipidoses
Ullman, M D; Pyeritz, R E; Moser, H W; Wenger, D A; Kolodny, E H
1980 Sep;26(10):1499-1503, Clinical chemistry
— id: 75084, year: 1980, vol: 26, page: 1499, stat: Journal Article,

Retinal pigment epithelial degeneration associated with leukocytic arylsulfatase A deficiency
Weiter, J J; Feingold, M; Kolodny, E H; Raghaven, S S
1980 Dec;90(6):768-772, American journal of ophthalmology
— id: 75082, year: 1980, vol: 90, page: 768, stat: Journal Article,

Reverse phase high-performance liquid chromatography of cerebrosides,sulfatides, and ceramides: microanalysis of homolog composition without hydrolysis and application to cerebroside analysis in peripheral nerves of adrenoleukodystrophy pateints
Yahara, S; Moser, H W; Kolodny, E H; Kishimoto, Y
1980 Mar;34(3):694-699, Journal of neurochemistry
— id: 75088, year: 1980, vol: 34, page: 694, stat: Journal Article,

SELECTIVE NEURONAL VULNERABILITY IN THE LYSOSOMAL STORAGE DISEASES
YOUNG, RSK; WILLIAMS, RT; NORMAN, MG; ZALNERAITIS, EL; KOLODNY, EH
1980 NOV ;8(2):218-218, Annals of neurology
— id: 74988, year: 1980, vol: 8, page: 218, stat: Journal Article,

34-YEAR-OLD MAN WITH A CEREBRAL DISORDER, NEUROPATHY AND HYPER-PIGMENTATION - ADRENOLEUKODYSTROPHY, WITH PERIPHERAL NEUROPATHY
BRESNAN, MJ; DAVIS, KR; KLIMAN, B; COHEN, ME; DICKERSIN, GR; KOLODNY, EH; VICKERY, AL
1979 NOV ;300(18):1037-1045, New England journal of medicine
— id: 74997, year: 1979, vol: 300, page: 1037, stat: Journal Article,

LIGHT AND ELECTRON-MICROSCOPIC STUDY OF MANNOSIDOSIS
DICKERSIN, GR; LOTT, IT; KOLODNY, EH; DVORAK, AM
1979 NOV ;40(2):251-252, Laboratory investigation
— id: 74999, year: 1979, vol: 40, page: 251, stat: Journal Article,

GENETIC-HETEROGENEITY IN ARYL SULFATASE-A (ASA) DEFICIENCY
KOLODNY, EH; RAGHAVAN, S; SPIELVOGEL, C; GAJEWSKI, A; LACSON, AC; JUNGALWALA, FB; LOTT, IT; DULANEY, JT; HOEFNAGEL, D
1979 NOV ;29(4):576-576, Neurology
— id: 74998, year: 1979, vol: 29, page: 576, stat: Journal Article,

CARBOHYDRATE-METABOLISM IN PHENYLKETONURIA
STEWART, RM; HEMLI, S; KOLODNY, EH; MILLER, AL; PALLOTTA, JA
1979 NOV ;13(4):482-482, Pediatric research
— id: 74996, year: 1979, vol: 13, page: 482, stat: Journal Article,

COMPRESSIVE MYELOPATHY IN MAROTEAUX-LAMY SYNDROME - PATHOLOGICAL FINDINGS
YOUNG, RSK; ZALNERAITIS, EL; KLEINMAN, GM; KOLODNY, EH; OJEMANN, RG
1979 NOV ;6(2):185-185, Annals of neurology
— id: 74995, year: 1979, vol: 6, page: 185, stat: Journal Article,

Occurrence of novel branched-chain fatty acids in Refsum's disease
Dulaney, J T; Williams, M; Evans, J E; Costello, C E; Kolodny, E H
1978 Apr 28;529(1):1-12, Biochimica & biophysica acta
— id: 75092, year: 1978, vol: 529, page: 1, stat: Journal Article,

Improved thin-layer chromatographic method in the diagnosis of mannosidosis
Friedman, R B; Williams, M A; Moser, H W; Kolodny, E H
1978 Sep;24(9):1576-1577, Clinical chemistry
— id: 75090, year: 1978, vol: 24, page: 1576, stat: Journal Article,

Normality of erythrocyte phospholipids in Duchenne muscular dystrophy
Koski, C L; Jungalwala, F B; Kolodny, E H
1978 May 2;85(3):295-298, Clinica chimica acta
— id: 75091, year: 1978, vol: 85, page: 295, stat: Journal Article,

ZINC THERAPY IN MANNOSIDOSIS
LOTT, IT; DICKERSIN, R; DVORAK, AB; KOLODNY, EH
1978 NOV ;12(4):509-509, Pediatric research
— id: 75001, year: 1978, vol: 12, page: 509, stat: Journal Article,

Effects of diet and behavior therapy on social and motor behavior of retarded phenylketonuric adults: an experimental analysis
Marholin, D 2nd; Pohl, R E 3rd; Stewart, R M; Touchette, P E; Townsend, N M; Kolodny, E H
1978 Mar;12(3):179-187, Pediatric research
— id: 75093, year: 1978, vol: 12, page: 179, stat: Journal Article,

LEUKOCYTE BETA-GLUCOSIDASE IN GAUCHER DISEASE
RAGHAVAN, SS; TOPOL, J; KOLODNY, EH
1978 NOV ;37(6):1767-1767, Federation proceedings (Federation of American Societies for Experimental Biology)
— id: 75000, year: 1978, vol: 37, page: 1767, stat: Journal Article,

Mannosidosis. New clinical presentation, enzyme studied, and carbohydrate analysis
Kistler, J P; Lott, I T; Kolodny, E H; Friedman, R B; Nersasian, R; Schnur, J; Mihm, M C; Dvorak, A M; Dickersin, R
1977 Jan;34(1):45-51, Archives of neurology
— id: 75096, year: 1977, vol: 34, page: 45, stat: Journal Article,

Carrier screening techniques for Tay-Sachs and other lysosomal storage diseases
Kolodny, E H
1977 ;18:213-219, Progress in clinical & biological research
— id: 75095, year: 1977, vol: 18, page: 213, stat: Journal Article,

ENZYMATIC DIAGNOSIS IN ATYPICAL CASES OF KRABBES DISEASE AND METACHROMATIC LEUKODYSTROPHY
KOLODNY, EH; GAJEWSKI, A
1977 NOV ;27(3):190-191, Human heredity
— id: 75003, year: 1977, vol: 27, page: 190, stat: Journal Article,

STEROID HEXOSAMINIDASE ACTIVITY IN SANDHOFF-JATZKEWITZ DISEASE - IDENTITY WITH HEXOSAMINIDASE-C
KOLODNY, EH; KOSHI, DL; FUKUSHIMA, KK
1977 NOV ;27(3):191-191, Human heredity
— id: 75004, year: 1977, vol: 27, page: 191, stat: Journal Article,

MANNOSIDOSIS - REPLY
LOTT, IT; KOLODNY, EH; DICKERSIN, R
1977 NOV ;34(10):650-651, Archives of neurology
— id: 75002, year: 1977, vol: 34, page: 650, stat: Journal Article,

GM1-ganglioside beta-galactosidase in leukocytes and cultured fibroblasts
Raghavan, S A; Gajewski, A; Kolodny, E H
1977 Nov 15;81(1):47-56, Clinica chimica acta
— id: 75094, year: 1977, vol: 81, page: 47, stat: Journal Article,

NEURONAL MORPHOLOGY IN ISOLATED CORTEX IN KRABBES DISEASE - GOLGI STUDY
WILLIAMS, RS; KOLODNY, EH; CAVINESS, VS
1977 NOV ;36(3):637-637, Journal of neuropathology & experimental neurology
— id: 75005, year: 1977, vol: 36, page: 637, stat: Journal Article,

Current concepts in genetics. Lysosomal storage diseases
Kolodny, E H
1976 May 27;294(22):1217-1220, New England journal of medicine
— id: 75099, year: 1976, vol: 294, page: 1217, stat: Journal Article,

Arylsulfatases A and B in metachromatic leukodystrophy and Maroteaux-Lamy syndrome: studies with 4-methylumelliferyl sulfate
Kolodny, E H; Mumford, R A
1976 ;68:239-251, Advances in experimental medicine & biology
— id: 75102, year: 1976, vol: 68, page: 239, stat: Journal Article,

Human leukocyte acid hydrolases: characterization of eleven lysosomal enzymes and study of reaction conditions for their automated analysis
Kolodny, E H; Mumford, R A
1976 Jul 15;70(2):247-257, Clinica chimica acta
— id: 75097, year: 1976, vol: 70, page: 247, stat: Journal Article,

Adrenoleukodystrophy: a clinical, pathological and biochemical study
Schaumburg, H H; Powers, J M; Raine, C S; Johnson, A B; Kolodny, E H; Kishimoto, Y; Igarashi, M; Suzuki, K
1976 ;68:379-387, Advances in experimental medicine & biology
— id: 75101, year: 1976, vol: 68, page: 379, stat: Journal Article,

The pituitary-thyroid axis in adults with phenylketonuria
Stewart, R M; Hemli, S; Daniels, G H; Kolodny, E H; Maloof, F
1976 Jun;42(6):1179-1181, Journal of clinical endocrinology & metabolism
— id: 75098, year: 1976, vol: 42, page: 1179, stat: Journal Article,

Cholesterol metabolism in cultured fibroblasts in adrenoleukodystrophy
Yavin, E; Milunsky, A; DeLong, G R; Nash, A H; Kolodny, E H
1976 May;10(5):540-545, Pediatric research
— id: 75100, year: 1976, vol: 10, page: 540, stat: Journal Article,

The preparation of Tay-Sachs ganglioside specifically labeled in either the N-acetylneuraminosyl or N-acetylgalactosaminyl portion of the molecule
Tallman, J F; Kolodny, E H; Brady, R O
1975 ;35:541-548, Methods in enzymology
— id: 75103, year: 1975, vol: 35, page: 541, stat: Journal Article,

MACULAR CHERRY-RED SPOT, MYOCLONIC EPILEPSY, AND NEUROVISCERAL STORAGE IN A 17-YEAR-OLD GIRL
GOLDSTEI.ML; KOLODNY, EH; GASCON, GG; GILLES, FH
1974 NOV ;30(5):420-420, Archives of neurology
— id: 75006, year: 1974, vol: 30, page: 420, stat: Journal Article,

Macular cherry-red spot, myoclonic epilepsy, and neurovisceral storage in a 17-year-old girl
Goldstein, M L; Kolodny, E H; Gascon, G G; Gilles, F H
1974 ;99:110-112, Transactions of the American Neurological Association
— id: 75105, year: 1974, vol: 99, page: 110, stat: Journal Article,

Steroid hexosaminidase activity in Tay-Sachs and Sandhoff-Jatzkewitz diseases
Tomasi, L G; Fukushima, D K; Kolodny, E H
1974 Dec;24(12):1158-1165, Neurology
— id: 75104, year: 1974, vol: 24, page: 1158, stat: Journal Article,

STEROID HEXOSAMINIDASE ACTIVITY IN TAY-SACHS AND SANDHOFF-JATZKEWITZ DISEASES
TOMASI, L; KOLODNY, EH; FUKUSHIM.DK
1974 NOV ;24(4):369-370, Neurology
— id: 75007, year: 1974, vol: 24, page: 369, stat: Journal Article,

Gm2-gangliosidosis: studies in cultured fibroblasts
Kolodny, E H; Milunsky, A; Sheng, G S
1973 Mar;9(2):130-135, Birth defects original articles series
— id: 75106, year: 1973, vol: 9, page: 130, stat: Journal Article,

GM2-GANGLIOSIDOSIS WITHOUT DEFICIENCY IN ARTIFICIAL SUBSTRATE CLEAVING ACTIVITY OF HEXOSAMINIDASES A AND B
KOLODNY, EH; WALD, I; MOSER, HW; COGAN, DG; KUWABARA, T
1973 NOV ;23(4):427-&, Neurology
— id: 75008, year: 1973, vol: 23, page: 427, stat: Journal Article,

Disorders of ganglioside metabolism
Brady, R O; Kolodny, E H
1972 ;8:225-241, Progress in medical genetics
— id: 75108, year: 1972, vol: 8, page: 225, stat: Journal Article,

Clinical and biochemical genetics of the lipidoses
Kolodny, E H
1972 Jul;9(3):251-271, Seminars in hematology
— id: 75107, year: 1972, vol: 9, page: 251, stat: Journal Article,

MORPHOLOGIC STUDIES IN O VARIANT OF GM2-GANGLIOSIDOSIS
KOLODNY, EH; ASTROM, KE; CAUFIELD, JB; HYMAN, VC; RICHARDS.EP
1972 NOV ;66(3):A12-&, American journal of pathology
— id: 75009, year: 1972, vol: 66, page: A12, stat: Journal Article,

Properties of a particle-bound enzyme from rat intestine that cleaves sialic acid from Tay-Sachs ganglioside
Kolodny, E H; Kanfer, J; Quirk, J M; Brady, R O
1971 Mar 10;246(5):1426-1431, Journal of biological chemistry
— id: 75110, year: 1971, vol: 246, page: 1426, stat: Journal Article,

Circular dichroism of gangliosides from normal and Tay-Sachs tissues
Stone, A L; Kolodny, E H
1971 Jul;6(3):274-279, Chemistry & physics of lipids
— id: 75109, year: 1971, vol: 6, page: 274, stat: Journal Article,

GANGLIOSIDE METABOLISM IN VIRALLY TRANSFORMED AND CHEMICALLY INDUCED HEPATOMA CELL LINES
BRADY, RO; MORA, PT; KOLODNY EH; BUREK C
1970 NOV ;29(2):A410-&, Federation proceedings (Federation of American Societies for Experimental Biology)
— id: 129586, year: 1970, vol: 29, page: A410, stat: Journal Article,

Enzymatic block in the synthesis of gangliosides in DNA virus-transformed tumorigenic mouse cell lines
Cumar, F A; Brady, R O; Kolodny, E H; McFarland, V W; Mora, P T
1970 Oct;67(2):757-764, Proceedings of the National Academy of Sciences of the United States of America
— id: 75114, year: 1970, vol: 67, page: 757, stat: Journal Article,

Further studies on the elucidation of the enzymatic defect in Tay-Sachs disease
Kolodny, E H; Brady, R O
1970 Apr;20(4):388-388, Neurology
— id: 75115, year: 1970, vol: 20, page: 388, stat: Journal Article,

Preparation of radioactive Tay-Sachs ganglioside labeled in the sialic acid moiety
Kolodny, E H; Brady, R O; Quirk, J M; Kanfer, J N
1970 Mar;11(2):144-149, Journal of lipid research
— id: 75116, year: 1970, vol: 11, page: 144, stat: Journal Article,

Prenatal genetic diagnosis (second of three parts)
Milunsky, A; Littlefield, J W; Kanfer, J N; Kolodny, E H; Shih, V E; Atkins, L
1970 Dec 24;283(26):1441-1447, New England journal of medicine
— id: 75112, year: 1970, vol: 283, page: 1441, stat: Journal Article,

Prenatal genetic diagnosis. I
Milunsky, A; Littlefield, J W; Kanfer, J N; Kolodny, E H; Shih, V E; Atkins, L
1970 Dec 17;283(25):1370-1381, New England journal of medicine
— id: 75113, year: 1970, vol: 283, page: 1370, stat: Journal Article,

Prenatal genetic diagnosis. 3
Milunsky, A; Littlefield, J W; Kanvfer, J N; Kolodny, E H; Shih, V E; Atkins, L
1970 Dec 31;283(27):1498-1504, New England journal of medicine
— id: 75111, year: 1970, vol: 283, page: 1498, stat: Journal Article,

Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease
Kolodny, E H; Brady, R O; Volk, B W
1969 Oct 22;37(3):526-531, Biochemical & biophysical research communications
— id: 75117, year: 1969, vol: 37, page: 526, stat: Journal Article,

STUDIES ON METABOLISM OF TAY-SACHS GANGLIOSIDE
KOLODNY, EH; BRADY, RO; QUIRK, JM; KANFER, JN
1969 NOV ;28(2):596-&, Federation proceedings (Federation of American Societies for Experimental Biology)
— id: 75010, year: 1969, vol: 28, page: 596, stat: Journal Article,

Granulomatous angiitis of the central nervous system
Kolodny, E H; Rebeiz, J J; Caviness, V S Jr; Richardson, E P Jr
1968 Nov;19(5):510-524, Archives of neurology
— id: 75118, year: 1968, vol: 19, page: 510, stat: Journal Article,

Granulomatous angiitis of the central nervous system
Kolodny, E H; Rebeiz, J J; Caviness, V S; Richardson, E P
1968 Jan;27(1):125-126, Journal of neuropathology & experimental neurology
— id: 75119, year: 1968, vol: 27, page: 125, stat: Journal Article,

Corticodentatonigral degeneration with neuronal achromasia
Rebeiz, J J; Kolodny, E H; Richardson, E P Jr
1968 Jan;18(1):20-33, Archives of neurology
— id: 75120, year: 1968, vol: 18, page: 20, stat: Journal Article,

WEEKLY CLINICOPATHOLOGICAL EXERCISES - CASE 35-1967
CASTLEMA.B; MCNEELY, BU; FISHER, CM; RICHARDS.EP; KOLODNY, EH; MOMOSE, J; ADAMS, RD; BALLANTI.HT; DOCTOROF.SJ; HEYL, JT
1967 NOV ;277(8):423-&, New England journal of medicine
— id: 75011, year: 1967, vol: 277, page: 423, stat: Journal Article,

Corticodentatonigral degeneration with neuronal achromasia: a progressive disorder of late adult life
Rebeiz, J J; Kolodny, E H; Richardson, E P Jr
1967 ;92:23-26, Transactions of the American Neurological Association
— id: 75121, year: 1967, vol: 92, page: 23, stat: Journal Article,

Refsum's syndrome with corneal involvement
Baum, J L; Tannenbaum, M; Kolodny, E H
1965 Oct;60(4):699-708, American journal of ophthalmology
— id: 75122, year: 1965, vol: 60, page: 699, stat: Journal Article,

REFSUM'S SYNDROME: REPORT OF A CASE INCLUDING ELECTRON MICROSCOPIC STUDIES OF THE LIVER
KOLODNY, E H; HASS, W K; LANE, B; DRUCKER, W D
1965 Jun;12:583-596, Archives of neurology
— id: 75123, year: 1965, vol: 12, page: 583, stat: Journal Article,

Effect of phlorizin on hepatic glucose output
KOLODNY EH; KLINE R; ALTSZULER N
1962 Jan;202:149-154, American journal of physiology
— id: 61916, year: 1962, vol: 202, page: 149, stat: Journal Article,

INFLUENCE OF PHLORIZIN ON CARBOHYDRATE METABOLISM
KOLODNY, EH; ALTSZULER, N; KLINE, R
1962 NOV ;21(2):81-&, Federation proceedings (Federation of American Societies for Experimental Biology)
— id: 75012, year: 1962,