Edwin Hillel Kolodny
| Born | |
| Died |
Related eponyms
US neurologist and geneticist.
Biography of Edwin Hillel Kolodny
Edwin Hillel Kolodny grqaduated from the New York University School of Medicine in 1962 and had his residency in the Bellevue Hospital, New York (internal medicine, completed 1964), the Massachusetts General Hospital in Boston (neurology, completed 1967) and the New York University Hospital Center (completed 1967).
He has private practice in New York and is affiliated five hospitals, among them the Hospital For Joint Disease/Orthopedic Institute Inc., the New York University Hospital Center. Kolodny has a Special Fellowship in Neurochemistry at the NINCDS in Bethesda. He is a Fellow of th American Academy of Neurology and the Americ an College of Medical Genetics. From 1991 he is also Bernard A. and Charlotte Marden Professor of Neurology and Chairman. His special interests include developmental disabilities, neurodegenerative diseases and inherited diseases of the nervous system.
Edwin Hillel Kolodny speaks Hebrew and Spanish.
We thank André Trombeta for information submitted.
Bibliography
Effect of phlorizin on hepatic glucose output.
Edwin H. Kolodny, Robert Kline, and Norman Altszuler.
American Journal of Physiology, Bethesda, MD, 1962, 202 (1): 149-154.
Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency.
A. d’Azzo, R. L. Proia, E. H. Kolodny, M. M. Kaback, E. F. Neufeld.
The Journal of Biological Chemistry, Baltimore 1984, 259 (17): 11070-11074.
GM2-ganglioside metabolism in cultured human skin fibroblasts: unambiguous diagnosis of GM2-gangliosidosis.
S. Raghavan, A. Krusell, T. A. Lyerla, E. G. Bremer, E. H. Kolodny.
Biochimica et biophysica acta, 1985, 834 (2): 238-248.
GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures.
S. Raghavan S, A. Krusell, J. Krusell, T. A. Lyerla, E. H. Kolodny.
The American Journal of Human Genetics, 1985,37 (6): 1071-1082.
Gm2 ganglioside metabolism in hexosaminidase A deficiency states: Determination in situ using labeled Gm2 added to fibroblast cultures.
S. Raghavan, A. Krusell, J. Krusell, T. A Lyerla and E. H. Kolodny.
The American Journal of Human Genetics, Chicago, 1985, 37: 1071-1082.
Two abnormalities of hexosaminidase A in clinically normal individuals.
E. E. Grebner, D. A. Mansfield, S. Raghavan, E. H. Kolodny, A. d’Azzo, E. F. Neufeld, L. G. Jackson.
The American Journal of Human Genetics, 1986, 38 (4): 505-514.
Metabolic activities in human skin fibroblasts preloaded with labeled GM2-ganglioside.
S. Raghavan, T. A. Lyerla, A. Krusell, E. H. Kolodny.
Biochimica et biophysica acta, 1987, 917 (1): 42-47.
Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation.
E. M. Kaye, E. H. Kolodny, E. L. Logigian, M. D. Ullman.
Department of Neurology (Pediatrics), University of Texas Health Science Center, Houston.
Annals of Neurology, Boston, May 1988, 23 (5): 505-509.
Ashkenazi Jewish and non-Jewish adult GM2 gangliosidosis patients share a common defect.
R. Navon, E. H. Kolodny, H. Mitsumoto, G. H. Thomas and R. L. Proia.
The American Journal of Human Genetics, Chicago, 1990, 46: 817-821.
Hexosaminidase pseudodeficiency.
R. L. Proia, R. Navon, E. H. Kolodny.
The American Journal of Human Genetics, Chicago, 1990, 47: 880-881.
Possible use of CSF glycosphingolipids for the diagnosis and therapeutic monitoring of lysosomal storage diseases.
E. M. Kaye, M. D. Ullman, E. H. Kolodny, W. Krivit, J. C. Rischert.
Neurology, 1992,42: 2290-2294.
Anatomic and physiological considerations in pallidotomy for Parkinson's disease.
M. Dogali, A. Beric, D. Sterio, D. Eidelberg, E. Fazzini, S. Takikawa, D. R. Samelson, O. Devinsky, E. H. Kolodny.
Stereotactic and functional neurosurgery 1994, 62 (1-4): 53-60.
Anatomic and physiological considerations in pallidotomy for Parkinson's disease.
M. Dogali, A. Beric, D. Sterio, D. Eidelberg, E. Fazzini, S. Takikawa, D. R. Samelson, O. Devinsky, E. H. Kolodny.
Acta neurochirurgica, Wien, Supplement 1995, 64: 9-12.
Familial spastic paraparesis. Is it a mitochondrial disorder?
N. Zelnik, E. Leshinsky, E. H. Kolodny
Pediatric Neurosurgery, 1995, 23 (4): 225-226.
Stereotactic ventral pallidotomy for Parkinson's disease.
M. Dogali, E. Fazzini, E. Kolodny, D. Eidelberg, D. Sterio, O. Devinsky, A. Beric
Neurology, 1995, 45 (4): 753-61.
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.
R. De Gasperi, M. A. Gama Sosa, E. E. Grebner, D. Mansfield, S. Battistini, E. L. Sartorato, S. Raghavan, J. G. Davis, E. H. Kolodny.
Biochemical and Molecular Medicine, 1995,56 (1): 31-36.
Characteristics of pallidal neuronal discharges in Parkinson's disease patients.
A. Beric, D. Sterio, M. Dogali, E. Fazzini, D. Eidelberg, E. Kolodny.
Advances in Neurology, 1996, 69: 123-128.
Effects of posteroventral pallidotomy on Parkinson's disease.
M. Dogali, D. Sterio, E. Fazzini, E. Kolodny, D. Eidelberg, A. Beric.
Advances in Neurology, 1996, 69: 585-590.
Correction of the galactocerebrosidase deficiency in globoid cell leukodystrophy-cultured cells by SL3-3 retroviral-mediated gene transfer.
M. A. Gama Sosa, R. De Gasperi, S. Undevia, J. Yeretsian, S. C. Rouse, T. A. Lyerla, E. H. Kolodny.
Biochemical and Biophysical Research Communications, 1996, 218 (3): 766-771.
Intrathecal synthesis of anti-sulfatide IgG is associated with peripheral nerve disease in acquired immunodeficiency syndrome.
R. De Gasperi, M. Angel, G. Sosa, R. Patarca, S. Battistini, M. R. Lamoreux, S. Raghavan, N. W. Kowall, K. H. Smith, M. A. Fletcher, E. H. Kolodny.
AIDS Research and Human Retroviruses, Larchmont, NY, 1996, 12 (3): 205-211.
Mitochondrial encephalomyopathies presenting with features of autonomic and visceral dysfunction.
N. Zelnik, F. B. Axelrod, E. Leshinsky, M. L. Griebel, E. H. Kolodny.
Pediatric Neurology, 1996,14(3):251-4.
Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.
R. De Gasperi, M. A. Gama Sosa, S. Battistini, J. Yeretsian, S. Raghavan, N. Zelnik, E. Leshinsky, E. H. Kolodny
Neurology, 1996, 47 (2): 547-552.
A human kidney cDNA which induces a cell surface protein epitope recognized by a monoclonal antibody against galactosylceramide.
M. A. Sosa, R. De Gasperi, S. Battistini, M. P. Gorman, R. Kolodny, E. H. Kolodny.
Biochemical and Biophysical Research Communications, 1996, 227 (2): 636-641.
Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.
N. Zelnik, W. B. Dobyns, S. L. Forem, E. H. Kolodny.
Neuroradiology, 1996, 38 (7): 684-687.
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.
R. De Gasperi, M. A. Gama Sosa, E. L. Sartorato, S. Battistini, H. MacFarlane, J. F. Gusella, W. Krivit, E. H. Kolodny.
The American Journal of Human Genetics, 1996, 59 (6): 1233-1242.
Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene.
G. L. Bernardini, D. G. Herrera, D. Carson, R. DeGasperi, M. A. Gama Sosa, E. H. Kolodny, R. Trifiletti.
Annals of neurology 1997,41(1):111-4.
Correlation of glioma cell regression with inhibition of insulin-like growth factor 1 and insulin-like growth factor-binding protein-2 expression.
Z. H. Wang, J. Ma, B. J. Zeng, V. M. Catanese, S. Samuels, M. A. Gama Sosa, E. H. Kolodny.
Neuroendocrinology 1997, 66 (3): 203-211.
5-Fluorocytosine-mediated apoptosis and DNA damage in glioma cells engineered to express cytosine deaminase and their enhancement with interferon.
Z. H. Wang, S. Samuels, M. A. Gama Sosa, E. H. Kolodny.
Journal of neuro-oncology 1998,36(3):219-29.
Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy.
W. Krivit, E. G. Shapiro, C. Peters, J. E. Wagner, G. Cornu, J. Kurtzberg, D. A. Wenger, E. H. Kolodny, M. T. Vanier, D. J. Loes, K. Dusenbery, L. A. Lockman.
The New England journal of medicine 1998,338(16):1119-26.
Cognitive functioning after pallidotomy for refractory Parkinson's disease.
K. Perrine, M. Dogali, E. Fazzini, D. Sterio, E. Kolodny, D. Eidelberg, O. Devinsky, A. Beric.
Journal of neurology, neurosurgery, and psychiatry 1998,65(2):150-4.
Highly abnormal thermotests in familial dysautonomia suggest increased cardiac autonomic risk.
M. J. Hilz, E. H. Kolodny, I. Neuner, B. Stemper, F. B. Axelrod
Journal of neurology, neurosurgery, and psychiatry 1998, 65 (3): 338-343.
Gaucher disease: recommendations on diagnosis, evaluation, and monitoring.
J. Charrow, J. A. Esplin, T. J. Gribble, P. Kaplan, E. H. Kolodny, G. M. Pastores, C. R. Scott, R. S. Wappner, N. J. Weinreb, J. S. Wisch.
Archives of internal medicine 1998,158(16):1754-60.
Quantitative thermal perception testing in 225 children and juveniles.
M. J. Hilz, B. Stemper, G. Schweibold, I. Neuner, F. Grahmann, E. H. Kolodny.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society 1998,15(6):529-34.
Molecular basis of late-life globoid cell leukodystrophy.
R. De Gasperi, M. A. Gama Sosa, E. Sartorato, S. Battistini, S. Raghavan, E. H. Kolodny.
Human mutation 1999,14 (3): 256-262.
G(M2)-ganglioside metabolism in situ in mucolipidosis IV fibroblasts.
S. Raghavan, E. Leshinsky, E. H. Kolodny.
Neurochemical research 1999, 24(4):475-9.
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.
Z. H. Wang, D. Zagzag, B. Zeng, E. H. Kolodny.
Journal of neuropathology and experimental neurology 1999,58(8):847-58.
Sympathetic skin response following thermal, electrical, acoustic, and inspiratory gasp stimulation in familial dysautonomia patients and healthy persons.
M. J. Hilz, F. B. Axelrod, G. Schweibold, E. H. Kolodny
Clinical Autonomic Research, 1999, 9 (4): 165-177.
Quantitative thermal perception testing in adults.
M. J. Hilz, B. Stemper, F. B. Axelrod, E. H. Kolodny, B. Neundörfer.
Journal of Clinical neurophysiology, 1999, 16 (5): 462-471.
Gaucher disease - In reply.
J. Charrow, J. A. Esplin, P. Kaplan, E. H. Kolodny, G. B. Pastores, C. R. Scott, R. S. Wappner, N. J. Weinreb, J. S. Wisch.
Archives of internal medicine, April 26, 1999, 159 (8): 881-882.
Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients.
M. J. Hilz, B. Stemper, E. H. Kolodny.
Pain, 2000, 84 (2-3): 361-365.
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).
R. DeGasperi, S. Raghavan, M. G. Sosa, E. H. Kolodny, C. Carrier, P. Rubenstein, C. Peters, J. Wagner, J. Kurtzberg, W. Krivit.
Bone marrow transplantation 2000,25(5):541-4.
Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis.
Z. H. Wang, B. Zeng, H. Shibuya, G. S. Johnson, J. Alroy, G. M. Pastores, S. Raghavan, E. H. Kolodny.
Journal of Inherited Metabolic Disease, 2000, 23 (6): 593-606.
The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease.
J. Charrow, H. C. Andersson, P. Kaplan, E. H. Kolodny, P. Mistry, G. Pastores, B. E. Rosenbloom, C. R. Scott, R. S. Wappner, N. J. Weinreb, A. Zimran.
Archives of Internal Medicine, 2000,160 (18): 2835-2843.
The Gaucher Registry: Severe bone disease among patients with Gaucher disease in the absence of significant hematologic abnormalities [Abstract].
N. J. Weinreb, H. Andersson, J. Charrow, P. Kaplan, E. H. Kolodny, P. Mistry, G. Pastores, B. E. Rosenbloom, C. R. Scott, R. S. Wappner.
Blood, November 16, 2000, 96 (11): 8A-8A
Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV.
Genetic Testing, 2001,5 (2): 87-92.
Molecular genetics of the beta-hexosaminidase isoenzymes: an introduction.
E. H. Kolodny
Advances in genetics 2001, 44(): 101-126.
Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV.
Z. H. Wang, B. Zeng, G. M. Pastores, N. Raksadawan, E. Ong, E. H. Kolodny.
Genetic Testing, Summer 2001, 5 (2): 87-92.
Metabolic and genetic disorders.
E. H. Kolodny. In: O. Devinsky and Westbrook LE, eds. Epilepsy and Developmental Disabilities. Boston: Butterworth-Heinemann, 2001, 17–22.
Growth improvement in response to enzyme replacement therapy (ERT) among children with Gaucher disease: The Gaucher Registry [Abstract].
P. Kaplan, H. C. Andersson, J. Charrow, E. H. Kolodny, P. Mistry, G. M. Pastores, B. E. Rosenbloom, C. R. Scott, R. S. Wappner, N. J. Weinreb.
The American Journal of Human Genetics, October 2001, 69 (4): 674-674.
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 [Abstract].
N. J. Weinreb, H. C. Andersson, J. Charrow, P. Kaplan, E. H. Kolodny, P. Mistry, G. Pastores, B. E. Rosenbloom, C. R. Scott, R. S. Wappner
Blood, November 16, 2001, 98 (11): 20A-20A.
Anderson-Fabry disease: extrarenal, neurologic manifestations.
Edwin H. Kolodny, Gregory M. Pastores.
Journal of the American Society of Nephrology, June 2002, 13 Supplement 2: 150-153
Therapeutic effects of astrocytes expressing both tyrosine hydroxylase and brain-derived neurotrophic factor on a rat model of Parkinson's disease.
Z. H. Wang, Y. Ji, W. Shan, B. Zeng, N. Raksadawan, G. M. Pastores, T. Wisniewski, E. H. Kolodny.
Neuroscience 2002,113 (3): 629-640.
Clinical protocol. Gene therapy of Canavan disease: AAV-2 vector for neurosurgical delivery of aspartoacylase gene (ASPA) to the human brain.
Christopher Janson, Scott McPhee, Larissa Bilaniuk, John Haselgrove, Mark Testaiuti, Andrew Freese, Dah-Jyuu Wang, David Shera, Peter Hurh, Joan Rupin, Elizabeth Saslow, Olga Goldfarb, Michael Goldberg, Ghassem Larijani, William Sharrar, Larisa Liouterman, Angelique Camp, E. Kolodnydwin, Jude Samulski, Paola Leone.
Human Gene Therapy, 2002, 13 (11): 1391-412.
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.
Neal J. Weinreb, J. Charrowoel, Hans C. Andersson, P. Kaplan, E. H. Kolodny, P. Mistry, Gregory M. Pastores, Barry E Rosenbloom, C. R. Scott, Rebecca S. Wappner, A. Zimran.
The American Journal of Medicine, 2002, 113 (2): 112-119.
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.
B. J. Zeng, Z. H. Wang, L. A. Ribeiro, P. Leone, R. De Gasperi, S. J. Kim, S. Raghavan, E. Ong, G. M. Pastores, E. H. Kolodny.
Journal of Inherited Metabolic Disease, 2002, 25 (7): 557-570.
RhIDU enzyme replacement therapy for MPS 1: 24-week extension study [Abstract].
L. A. Clarke, J. Muenzer, E. H. Kolodny, G. M. Pastores, M. Beck, J. E. Wraith.
American journal of human genetics, October 2002, 71 (4): 581-581
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 [Abstract].
N. J. Weinreb, H. Andersson, J. Charrow, P. Kaplan, E. H. Kolodny, P. K. MistryK, G. Pastores, A. Prakash-Cheng, B. E. Rosenbloom, C. R. Scott, R. S. Wappner.
Blood, November 16, 2002, 100 (11): 485A-485A
Glycosphingolipid reduction in fibroblasts of Tay-Sachs disease patients treated with n-butyldeoxynojirimycin.
E. Ong, S. Raghavan, G. Pastores, E. H. Kolodny.
Journal of Neurochemistry, May 2003, 85 (9): 68-68
Demography of untreated Type 1 Gaucher disease (GD1) in children [Abstract]
P. Kaplan, H. AnderssonC, J. Charrow, A. Prakash-Cheng, E. H. Kolodny, P. Mistry, G. M. Pastores, B. Rosenbloom, C. R. Scott, R. S. Wappner, N. Weinreb.
The American Journal of Human Genetics, November 2003, 73 (5): 456-456.
Effects of Aldurazyme (R) (laronidase) on joint mobility in MPS I [Abstract].
M. Bajbouj, Michael Beck, J. E. Wraith, Lorne A Clarke, E. H. Kolodny, G. M. Pastores, J. Muenzer.
The American Journal of Human Genetics, November 2003, 73 (5): 621-621
Aldurazyme (R) (laronidase) enzyme replacement therapy for MPS I: 48-week extension data [Abstract].
Lorne A. Clarke, J. E. Wraith, Michael Beck, E. H. Kolodny, G. M. Pastores.
The American Journal of Human Genetics, November 2003, 73 (5): 623-623
The clinical benefit of Aldurazyme (R) (laronidase) for the treatment of MPS I [Abstract].
G. M. Pastores, J. E. Wraith, Lorne A. Clarke, Michael Beck, E. H. Kolodny, J. Muenzer, F. G. Cox, A. M. Skrinar.
The American Journal of Human Genetics, November 2003, 73 (5): 624-624
A neurological symptom survey of patients with type I Gaucher disease.
G. M. Pastores, Barnett, N L, Bathan, P, Edwin H. Kolodny.
Journal of Inherited Metabolic Disease, 2003, 26 (7): 641-645
Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations.
J. Charrowoel, Hans C. Andersson, P. Kaplanaige, Edwin H. Kolodny, P. Mistryramod, Gregory Pastores, Prakash-Cheng Ainu, Barry E Rosenbloom, C. R. Scottonald, Rebecca S. Wappner, Neal J. Weinreb.
The Journal of Pediatrics 2004, 144 (1): 112-120.
Late-onset Tay-Sachs disease.
Orit Neudorferrit, Edwin H. Kolodny.
The Israel Medical Association Journal : IMAJ, 2004, 6 (2): 107-111.
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).
James E Wraith, Lorne A. Clarke, Michael Beck, Edwin H. Kolodny, Gregory M. Pastores, Joseph Muenzer, David M. Rapoport, Kenneth I. Berger, Stuart J. Swiedler, Emil D. Kakkis, Tanja Braakman, Elenie Chadbourne, Karen Walton-Bowen, Gerald F. Cox.
The Journal of Pediatrics, May 2004, 144 (5): 581-588.
Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease.
Max Josef Hilz, Edwin H. Kolodny, Miroslaw Brys, B. Stemperrigitte, Thomas Haendl, Harald Marthol.
Journal of Neurology 2004, 251 (5): 564-570.
Neuropsychological assessment of patients with late onset GM2 gangliosidosis.
C. M. Zaroff, Orit Neudorfer, C. Morrison, G. M. Pastores, H. Rubin, E. H. Kolodny.
Neurology, 2004, 62 (12): 2283-2286.
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.
Neal J. Weinreb, C. Mario Aggio, Hans C. Andersson, Generoso Andria, J. Charrow, Joe T. Clarke, A. Erikson Anders, Pilar Giraldo, Jack Goldblatt, Carla Hollak, Hiroyuki Ida, P. Kaplan Edwin H. Kolodny, P. Mistry, Gregory M. Pastores, Ricardo Pires, Ainu Prakash-Cheng, Rosenbloom Barry E, C. R. Scott, Elisa Sobreira, Anna Tylki-Szymanska, Ashok Vellodi, Stephan vom Dahl, Rebecca S. Wappner, A. Zimran. International Collaborative Gaucher Group (ICGG).
Seminars in Hematology 2004, 41 (4 Supplement 5): 15-22.
Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations.
J. Charrow, H. C. Andersson, P. Kaplan, E. H. Kolodny, P. Mistry, G. Pastores, Ainu Prakash-Cheng, Barry E. Rosenbloom, C. Ronald Scott, Rebecca S. Wappner, Neal J. Weinreb.
Journal of pediatrics, January 2004, 144 (1): 112-120
Aldurazyme (laronidase) enzyme replacement therapy for MPS I: 72-week extension data [Abstract].
A. Lorne Clarke, James E. Wraith, Michael Beck, E. H. Kolodny, G. M. Pastores, J. Muenzer.
Molecular Genetics & Metabolism, March 2004, 81 (3): 169-169
Neuropsychological assessment of patients with late onset GM2 gangliosidosis.
C. M. Zaroff, Orit Neudorfer, C. Morrison, G. M. Pastores, H. Rubin, Edwin H. Kolodny.
Neurology, 2004 Jun 22,62(12):2283-6
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.
Neal J. Weinreb, C. Mario. Aggio, Hans C. Andersson, Generoso Andria, J. Charrow, Joe T. Clarke, A. Erikson Anders, Pilar Giraldo, Jack Goldblatt, Carla Hollak, Hiroyuki Ida, P. Kaplan, Edwin H. Kolodny, P. Mistry, Gregory M. Pastores, Ricardo Pires, Ainu Prakash-Cheng, Rosenbloom Barry E, C. R. Scott, Elisa Sobreira, Anna Tylki-Szymanska, Ashok Vellodi, Stephan vom Dahl, Rebecca S. Wappner, A. Zimran. International Collaborative Gaucher Group (ICGG).
Seminars in hematology 2004, 41 (4 Supplement 5): 15-22.
Aldurazyme (laronidase) enzyme replacement therapy for mps i: 96-week extension data [abstract].
J. E. Wraith, J. Muenzer, E. H. Kolodny, G. Pastores, Michael Beck, Lorne A. Clarke.
Journal of Inherited Metabolic Disease, July, 2005, 28 (6): 182-182.
Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations.
S. Raghavan, B. Zeng, Paola A. Torres, G. M. Pastores, Edwin H. Kolodny, J. Kurtzberg, W. Krivit.
Journal of Inherited Metabolic Disease, 2005,28 (6): 1005-1009
An open-label, noncomparative study of miglustat in type I Gaucher disease: Efficacy and tolerability over 24 months of treatment.
Gregory M. Pastores, Natalie L. Barnett, Edwin H. Kolodny,
Clinical Therapeutics, August 2005, 27 (8): 1215-1227
Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients.
Orit Neudorfer, Gregory M. Pastores, Bai J. Zeng, John Gianutsos, Charles M. Zaroff, Edwin H. Kolodny.
Genetics in Medicine, February 2005, 7 (2): 119-123.
Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations.
S. Raghavan, B. Zeng, Paola A. Torres, G. M. Pastores, E. H. Kolodny, J. Kurtzberg, W. Krivit.
Journal of Inherited Metabolic Disease 2005, 28 (6): 1005-1009.
Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.
Orit Neudorfer, Gregory M. Pastores, B. Zengai J, Gianutsos John, Zaroff Charles M, Edwin H. Kolodny
Genetics in Medicine, 2005, 7 (2): 119-123.
An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment.
Gregory M. Pastores, Natalie L Barnett, Edwin H. Kolodny
Clinical Therapeutics, 2005, 27 (8): 1215-1227.
MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis.
Matilde Inglese, Annette O. Nusbaum, Gregory M. Pastores, John Gianutsos, Edwin H. Kolodny and Oded Gonen.
AJNR. American Journal of Neuroradiology, 2005, 26 (8): 2037-2042.
Bioimaging in Neurodegeneration.
P. A. Broderick, D. N. Rahni and E. H. Kolodny, editors. Totowa : Humana Press Inc., 2005.
A phase 3 extension study of Aldurazyme (R) (laronidase) in mucopolysaccharidosis I (MPS I) [Abstract].
A. Lorne Clarke, J. E. Wraith, Michael Beck, E. H. Kolodny, G. M. Pastores, J. Muenzer.
Journal of inherited metabolic disease. 2006 AUG,29(5):28-28
Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.
Christopher G. Janson, Edwin H. Kolodny, Bai-Jin Zeng, Raghavan Srinivasa, Gregory Pastores, Paola Torres, Mitra Assadi, Scott McPhee, Olga Goldfarb, Beth Saslow Andrew Freese, D. J. Wang, Larissa Bilaniuk, David Shera, Paola Leone.
Annals of Neurology, February 2006, 59 (2): 428-431
Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.
B. Zengai-Jin, Gregory M. Pastores, Leone Paola, S. Raghavanrinivasa, Z. H. Wangao-Hui, A. Ribeiro Lucilene, Torres Paola, E. Onglton, Edwin H. Kolodny.
Advances in experimental medicine and biology 2006,576():165-73, discussion 361-3.
CNS pathology and vascular/circulatory abnormalities in Fabry disease.
Edwin H. Kolodny, Gregory M. Pastores.
Acta paediatrica (Oslo, Norway): 1992). Supplement 2006,95(451):55-6.
Leukodystrophies: clinical and genetic aspects.
Gilles Lyon, Aviva Fattal-Valevski, Edwin H. Kolodny.
Topics in magnetic resonance imaging : TMRI 2006,17(4):219-42.
Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease.
B. J. Zeng, Z. H. Wang, P. A. Torres, G. M. Pastores, Leone P, S. Raghavan S, E. H. Kolodny.
Molecular Genetics and Metabolism, 2006, 89 (1-2): 156-163.
Neuropathology of LSDs.
Ewin H. Kolodny.
Acta paediatrica (Oslo, Norway : 1992). Supplement 2007,96(455):25.
Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties.
A. Zia, E. H. Kolodny, G. M. Pastores
Journal of inherited metabolic disease 2007,30(5):817.
A phase III extension study of Aldurazyme (R) (Laronidase) in mucopolysaccharidosis I [Abstract].
A. Lorne Clarke, J. E. Wraith, Michael Beck, E. H. Kolodny, G. M. Pastores, J. Muenzer.
Clinical therapeutics, December 2007, 29(6): 111-111.
Spontaneous appearance of Tay-Sachs disease in an animal model.
B. J. Zeng, P. A. Torres, T. C. Viner, Z. H. Wang, S. Raghavan, J. Alroy, Gregory M. Pastores, E. H. Kolodny.
Molecular Genetics and Metabolism, 2008, 95 (1-2): 59-65.
Pathogenic combination or polymorphism in Pompe disease ?
M. A. Kroos, R. A. Mullaart, L. Van Vliet, R. J. Pomponio, H. Amartino, E. H. Kolodny, G. M. Pastores, R. A. Wevers, A. T. Van der Ploeg, D. J. Halley, A. J. Reuser.[G576S, E689K].
European Journal of Human Genetics, August 2008, 16 (8): 875-879.
Real Time Imaging of Biomarkers in the Parkinson's Brain Using Mini-Implantable Biosensors. II. Pharmaceutical Therapy with Bromocriptine.
Patricia A. Broderick and Edwin H. Kolodny.
Pharmaceuticals 2009, 2(3), 236-249.
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I.
Lorne A. Clarke, J Edmond Wraith, Michael Beck, Edwin H. Kolodny, Gregory M. Pastores, Joseph Muenzer, David M. Rapoport, Kenneth I. Berger, Marisa Sidman, Emil D. Kakkis, Gerald F. Cox.
Pediatrics, 2009, 123 (1): 229-240.
Acute confusional migraine may be a presenting feature of CADASIL.
Swati Sathe, Edgar DePeralta, Gregory Pastores, Edwin H. Kolodny
Headache, 2009, 49 (4): 590-596.
Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.
Aviva Fattal-Valevski, Miriam S. DiMaio, Fuki M. Hisama, Grace M. Hobson, Angelique Davis-Williams, James Y. Garbern, Maurice J. Mahoney, Edwin H. Kolodny, Gregory M. Pastores.
Journal of Child Neurology, 2009, 24 (5): 618-624.
Management of neuronopathic Gaucher disease: revised recommendations.
A. Vellodi, A. Tylki-Szymanska, E. H. Davies, E. Kolodny, B. Bembi, T. Collin-Histed, E. Mengel, A. Erikson, R. Schiffmann.
Journal of Inherited Metabolic Disease, 2009, 32 (5): 660-664.
Edwin H. Kolodny, Robert Kline, and Norman Altszuler.
American Journal of Physiology, Bethesda, MD, 1962, 202 (1): 149-154.
Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency.
A. d’Azzo, R. L. Proia, E. H. Kolodny, M. M. Kaback, E. F. Neufeld.
The Journal of Biological Chemistry, Baltimore 1984, 259 (17): 11070-11074.
GM2-ganglioside metabolism in cultured human skin fibroblasts: unambiguous diagnosis of GM2-gangliosidosis.
S. Raghavan, A. Krusell, T. A. Lyerla, E. G. Bremer, E. H. Kolodny.
Biochimica et biophysica acta, 1985, 834 (2): 238-248.
GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures.
S. Raghavan S, A. Krusell, J. Krusell, T. A. Lyerla, E. H. Kolodny.
The American Journal of Human Genetics, 1985,37 (6): 1071-1082.
Gm2 ganglioside metabolism in hexosaminidase A deficiency states: Determination in situ using labeled Gm2 added to fibroblast cultures.
S. Raghavan, A. Krusell, J. Krusell, T. A Lyerla and E. H. Kolodny.
The American Journal of Human Genetics, Chicago, 1985, 37: 1071-1082.
Two abnormalities of hexosaminidase A in clinically normal individuals.
E. E. Grebner, D. A. Mansfield, S. Raghavan, E. H. Kolodny, A. d’Azzo, E. F. Neufeld, L. G. Jackson.
The American Journal of Human Genetics, 1986, 38 (4): 505-514.
Metabolic activities in human skin fibroblasts preloaded with labeled GM2-ganglioside.
S. Raghavan, T. A. Lyerla, A. Krusell, E. H. Kolodny.
Biochimica et biophysica acta, 1987, 917 (1): 42-47.
Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation.
E. M. Kaye, E. H. Kolodny, E. L. Logigian, M. D. Ullman.
Department of Neurology (Pediatrics), University of Texas Health Science Center, Houston.
Annals of Neurology, Boston, May 1988, 23 (5): 505-509.
Ashkenazi Jewish and non-Jewish adult GM2 gangliosidosis patients share a common defect.
R. Navon, E. H. Kolodny, H. Mitsumoto, G. H. Thomas and R. L. Proia.
The American Journal of Human Genetics, Chicago, 1990, 46: 817-821.
Hexosaminidase pseudodeficiency.
R. L. Proia, R. Navon, E. H. Kolodny.
The American Journal of Human Genetics, Chicago, 1990, 47: 880-881.
Possible use of CSF glycosphingolipids for the diagnosis and therapeutic monitoring of lysosomal storage diseases.
E. M. Kaye, M. D. Ullman, E. H. Kolodny, W. Krivit, J. C. Rischert.
Neurology, 1992,42: 2290-2294.
Anatomic and physiological considerations in pallidotomy for Parkinson's disease.
M. Dogali, A. Beric, D. Sterio, D. Eidelberg, E. Fazzini, S. Takikawa, D. R. Samelson, O. Devinsky, E. H. Kolodny.
Stereotactic and functional neurosurgery 1994, 62 (1-4): 53-60.
Anatomic and physiological considerations in pallidotomy for Parkinson's disease.
M. Dogali, A. Beric, D. Sterio, D. Eidelberg, E. Fazzini, S. Takikawa, D. R. Samelson, O. Devinsky, E. H. Kolodny.
Acta neurochirurgica, Wien, Supplement 1995, 64: 9-12.
Familial spastic paraparesis. Is it a mitochondrial disorder?
N. Zelnik, E. Leshinsky, E. H. Kolodny
Pediatric Neurosurgery, 1995, 23 (4): 225-226.
Stereotactic ventral pallidotomy for Parkinson's disease.
M. Dogali, E. Fazzini, E. Kolodny, D. Eidelberg, D. Sterio, O. Devinsky, A. Beric
Neurology, 1995, 45 (4): 753-61.
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.
R. De Gasperi, M. A. Gama Sosa, E. E. Grebner, D. Mansfield, S. Battistini, E. L. Sartorato, S. Raghavan, J. G. Davis, E. H. Kolodny.
Biochemical and Molecular Medicine, 1995,56 (1): 31-36.
Characteristics of pallidal neuronal discharges in Parkinson's disease patients.
A. Beric, D. Sterio, M. Dogali, E. Fazzini, D. Eidelberg, E. Kolodny.
Advances in Neurology, 1996, 69: 123-128.
Effects of posteroventral pallidotomy on Parkinson's disease.
M. Dogali, D. Sterio, E. Fazzini, E. Kolodny, D. Eidelberg, A. Beric.
Advances in Neurology, 1996, 69: 585-590.
Correction of the galactocerebrosidase deficiency in globoid cell leukodystrophy-cultured cells by SL3-3 retroviral-mediated gene transfer.
M. A. Gama Sosa, R. De Gasperi, S. Undevia, J. Yeretsian, S. C. Rouse, T. A. Lyerla, E. H. Kolodny.
Biochemical and Biophysical Research Communications, 1996, 218 (3): 766-771.
Intrathecal synthesis of anti-sulfatide IgG is associated with peripheral nerve disease in acquired immunodeficiency syndrome.
R. De Gasperi, M. Angel, G. Sosa, R. Patarca, S. Battistini, M. R. Lamoreux, S. Raghavan, N. W. Kowall, K. H. Smith, M. A. Fletcher, E. H. Kolodny.
AIDS Research and Human Retroviruses, Larchmont, NY, 1996, 12 (3): 205-211.
Mitochondrial encephalomyopathies presenting with features of autonomic and visceral dysfunction.
N. Zelnik, F. B. Axelrod, E. Leshinsky, M. L. Griebel, E. H. Kolodny.
Pediatric Neurology, 1996,14(3):251-4.
Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.
R. De Gasperi, M. A. Gama Sosa, S. Battistini, J. Yeretsian, S. Raghavan, N. Zelnik, E. Leshinsky, E. H. Kolodny
Neurology, 1996, 47 (2): 547-552.
A human kidney cDNA which induces a cell surface protein epitope recognized by a monoclonal antibody against galactosylceramide.
M. A. Sosa, R. De Gasperi, S. Battistini, M. P. Gorman, R. Kolodny, E. H. Kolodny.
Biochemical and Biophysical Research Communications, 1996, 227 (2): 636-641.
Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.
N. Zelnik, W. B. Dobyns, S. L. Forem, E. H. Kolodny.
Neuroradiology, 1996, 38 (7): 684-687.
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.
R. De Gasperi, M. A. Gama Sosa, E. L. Sartorato, S. Battistini, H. MacFarlane, J. F. Gusella, W. Krivit, E. H. Kolodny.
The American Journal of Human Genetics, 1996, 59 (6): 1233-1242.
Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene.
G. L. Bernardini, D. G. Herrera, D. Carson, R. DeGasperi, M. A. Gama Sosa, E. H. Kolodny, R. Trifiletti.
Annals of neurology 1997,41(1):111-4.
Correlation of glioma cell regression with inhibition of insulin-like growth factor 1 and insulin-like growth factor-binding protein-2 expression.
Z. H. Wang, J. Ma, B. J. Zeng, V. M. Catanese, S. Samuels, M. A. Gama Sosa, E. H. Kolodny.
Neuroendocrinology 1997, 66 (3): 203-211.
5-Fluorocytosine-mediated apoptosis and DNA damage in glioma cells engineered to express cytosine deaminase and their enhancement with interferon.
Z. H. Wang, S. Samuels, M. A. Gama Sosa, E. H. Kolodny.
Journal of neuro-oncology 1998,36(3):219-29.
Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy.
W. Krivit, E. G. Shapiro, C. Peters, J. E. Wagner, G. Cornu, J. Kurtzberg, D. A. Wenger, E. H. Kolodny, M. T. Vanier, D. J. Loes, K. Dusenbery, L. A. Lockman.
The New England journal of medicine 1998,338(16):1119-26.
Cognitive functioning after pallidotomy for refractory Parkinson's disease.
K. Perrine, M. Dogali, E. Fazzini, D. Sterio, E. Kolodny, D. Eidelberg, O. Devinsky, A. Beric.
Journal of neurology, neurosurgery, and psychiatry 1998,65(2):150-4.
Highly abnormal thermotests in familial dysautonomia suggest increased cardiac autonomic risk.
M. J. Hilz, E. H. Kolodny, I. Neuner, B. Stemper, F. B. Axelrod
Journal of neurology, neurosurgery, and psychiatry 1998, 65 (3): 338-343.
Gaucher disease: recommendations on diagnosis, evaluation, and monitoring.
J. Charrow, J. A. Esplin, T. J. Gribble, P. Kaplan, E. H. Kolodny, G. M. Pastores, C. R. Scott, R. S. Wappner, N. J. Weinreb, J. S. Wisch.
Archives of internal medicine 1998,158(16):1754-60.
Quantitative thermal perception testing in 225 children and juveniles.
M. J. Hilz, B. Stemper, G. Schweibold, I. Neuner, F. Grahmann, E. H. Kolodny.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society 1998,15(6):529-34.
Molecular basis of late-life globoid cell leukodystrophy.
R. De Gasperi, M. A. Gama Sosa, E. Sartorato, S. Battistini, S. Raghavan, E. H. Kolodny.
Human mutation 1999,14 (3): 256-262.
G(M2)-ganglioside metabolism in situ in mucolipidosis IV fibroblasts.
S. Raghavan, E. Leshinsky, E. H. Kolodny.
Neurochemical research 1999, 24(4):475-9.
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.
Z. H. Wang, D. Zagzag, B. Zeng, E. H. Kolodny.
Journal of neuropathology and experimental neurology 1999,58(8):847-58.
Sympathetic skin response following thermal, electrical, acoustic, and inspiratory gasp stimulation in familial dysautonomia patients and healthy persons.
M. J. Hilz, F. B. Axelrod, G. Schweibold, E. H. Kolodny
Clinical Autonomic Research, 1999, 9 (4): 165-177.
Quantitative thermal perception testing in adults.
M. J. Hilz, B. Stemper, F. B. Axelrod, E. H. Kolodny, B. Neundörfer.
Journal of Clinical neurophysiology, 1999, 16 (5): 462-471.
Gaucher disease - In reply.
J. Charrow, J. A. Esplin, P. Kaplan, E. H. Kolodny, G. B. Pastores, C. R. Scott, R. S. Wappner, N. J. Weinreb, J. S. Wisch.
Archives of internal medicine, April 26, 1999, 159 (8): 881-882.
Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients.
M. J. Hilz, B. Stemper, E. H. Kolodny.
Pain, 2000, 84 (2-3): 361-365.
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).
R. DeGasperi, S. Raghavan, M. G. Sosa, E. H. Kolodny, C. Carrier, P. Rubenstein, C. Peters, J. Wagner, J. Kurtzberg, W. Krivit.
Bone marrow transplantation 2000,25(5):541-4.
Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis.
Z. H. Wang, B. Zeng, H. Shibuya, G. S. Johnson, J. Alroy, G. M. Pastores, S. Raghavan, E. H. Kolodny.
Journal of Inherited Metabolic Disease, 2000, 23 (6): 593-606.
The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease.
J. Charrow, H. C. Andersson, P. Kaplan, E. H. Kolodny, P. Mistry, G. Pastores, B. E. Rosenbloom, C. R. Scott, R. S. Wappner, N. J. Weinreb, A. Zimran.
Archives of Internal Medicine, 2000,160 (18): 2835-2843.
The Gaucher Registry: Severe bone disease among patients with Gaucher disease in the absence of significant hematologic abnormalities [Abstract].
N. J. Weinreb, H. Andersson, J. Charrow, P. Kaplan, E. H. Kolodny, P. Mistry, G. Pastores, B. E. Rosenbloom, C. R. Scott, R. S. Wappner.
Blood, November 16, 2000, 96 (11): 8A-8A
Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV.
Genetic Testing, 2001,5 (2): 87-92.
Molecular genetics of the beta-hexosaminidase isoenzymes: an introduction.
E. H. Kolodny
Advances in genetics 2001, 44(): 101-126.
Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV.
Z. H. Wang, B. Zeng, G. M. Pastores, N. Raksadawan, E. Ong, E. H. Kolodny.
Genetic Testing, Summer 2001, 5 (2): 87-92.
Metabolic and genetic disorders.
E. H. Kolodny. In: O. Devinsky and Westbrook LE, eds. Epilepsy and Developmental Disabilities. Boston: Butterworth-Heinemann, 2001, 17–22.
Growth improvement in response to enzyme replacement therapy (ERT) among children with Gaucher disease: The Gaucher Registry [Abstract].
P. Kaplan, H. C. Andersson, J. Charrow, E. H. Kolodny, P. Mistry, G. M. Pastores, B. E. Rosenbloom, C. R. Scott, R. S. Wappner, N. J. Weinreb.
The American Journal of Human Genetics, October 2001, 69 (4): 674-674.
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 [Abstract].
N. J. Weinreb, H. C. Andersson, J. Charrow, P. Kaplan, E. H. Kolodny, P. Mistry, G. Pastores, B. E. Rosenbloom, C. R. Scott, R. S. Wappner
Blood, November 16, 2001, 98 (11): 20A-20A.
Anderson-Fabry disease: extrarenal, neurologic manifestations.
Edwin H. Kolodny, Gregory M. Pastores.
Journal of the American Society of Nephrology, June 2002, 13 Supplement 2: 150-153
Therapeutic effects of astrocytes expressing both tyrosine hydroxylase and brain-derived neurotrophic factor on a rat model of Parkinson's disease.
Z. H. Wang, Y. Ji, W. Shan, B. Zeng, N. Raksadawan, G. M. Pastores, T. Wisniewski, E. H. Kolodny.
Neuroscience 2002,113 (3): 629-640.
Clinical protocol. Gene therapy of Canavan disease: AAV-2 vector for neurosurgical delivery of aspartoacylase gene (ASPA) to the human brain.
Christopher Janson, Scott McPhee, Larissa Bilaniuk, John Haselgrove, Mark Testaiuti, Andrew Freese, Dah-Jyuu Wang, David Shera, Peter Hurh, Joan Rupin, Elizabeth Saslow, Olga Goldfarb, Michael Goldberg, Ghassem Larijani, William Sharrar, Larisa Liouterman, Angelique Camp, E. Kolodnydwin, Jude Samulski, Paola Leone.
Human Gene Therapy, 2002, 13 (11): 1391-412.
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.
Neal J. Weinreb, J. Charrowoel, Hans C. Andersson, P. Kaplan, E. H. Kolodny, P. Mistry, Gregory M. Pastores, Barry E Rosenbloom, C. R. Scott, Rebecca S. Wappner, A. Zimran.
The American Journal of Medicine, 2002, 113 (2): 112-119.
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.
B. J. Zeng, Z. H. Wang, L. A. Ribeiro, P. Leone, R. De Gasperi, S. J. Kim, S. Raghavan, E. Ong, G. M. Pastores, E. H. Kolodny.
Journal of Inherited Metabolic Disease, 2002, 25 (7): 557-570.
RhIDU enzyme replacement therapy for MPS 1: 24-week extension study [Abstract].
L. A. Clarke, J. Muenzer, E. H. Kolodny, G. M. Pastores, M. Beck, J. E. Wraith.
American journal of human genetics, October 2002, 71 (4): 581-581
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 [Abstract].
N. J. Weinreb, H. Andersson, J. Charrow, P. Kaplan, E. H. Kolodny, P. K. MistryK, G. Pastores, A. Prakash-Cheng, B. E. Rosenbloom, C. R. Scott, R. S. Wappner.
Blood, November 16, 2002, 100 (11): 485A-485A
Glycosphingolipid reduction in fibroblasts of Tay-Sachs disease patients treated with n-butyldeoxynojirimycin.
E. Ong, S. Raghavan, G. Pastores, E. H. Kolodny.
Journal of Neurochemistry, May 2003, 85 (9): 68-68
Demography of untreated Type 1 Gaucher disease (GD1) in children [Abstract]
P. Kaplan, H. AnderssonC, J. Charrow, A. Prakash-Cheng, E. H. Kolodny, P. Mistry, G. M. Pastores, B. Rosenbloom, C. R. Scott, R. S. Wappner, N. Weinreb.
The American Journal of Human Genetics, November 2003, 73 (5): 456-456.
Effects of Aldurazyme (R) (laronidase) on joint mobility in MPS I [Abstract].
M. Bajbouj, Michael Beck, J. E. Wraith, Lorne A Clarke, E. H. Kolodny, G. M. Pastores, J. Muenzer.
The American Journal of Human Genetics, November 2003, 73 (5): 621-621
Aldurazyme (R) (laronidase) enzyme replacement therapy for MPS I: 48-week extension data [Abstract].
Lorne A. Clarke, J. E. Wraith, Michael Beck, E. H. Kolodny, G. M. Pastores.
The American Journal of Human Genetics, November 2003, 73 (5): 623-623
The clinical benefit of Aldurazyme (R) (laronidase) for the treatment of MPS I [Abstract].
G. M. Pastores, J. E. Wraith, Lorne A. Clarke, Michael Beck, E. H. Kolodny, J. Muenzer, F. G. Cox, A. M. Skrinar.
The American Journal of Human Genetics, November 2003, 73 (5): 624-624
A neurological symptom survey of patients with type I Gaucher disease.
G. M. Pastores, Barnett, N L, Bathan, P, Edwin H. Kolodny.
Journal of Inherited Metabolic Disease, 2003, 26 (7): 641-645
Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations.
J. Charrowoel, Hans C. Andersson, P. Kaplanaige, Edwin H. Kolodny, P. Mistryramod, Gregory Pastores, Prakash-Cheng Ainu, Barry E Rosenbloom, C. R. Scottonald, Rebecca S. Wappner, Neal J. Weinreb.
The Journal of Pediatrics 2004, 144 (1): 112-120.
Late-onset Tay-Sachs disease.
Orit Neudorferrit, Edwin H. Kolodny.
The Israel Medical Association Journal : IMAJ, 2004, 6 (2): 107-111.
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).
James E Wraith, Lorne A. Clarke, Michael Beck, Edwin H. Kolodny, Gregory M. Pastores, Joseph Muenzer, David M. Rapoport, Kenneth I. Berger, Stuart J. Swiedler, Emil D. Kakkis, Tanja Braakman, Elenie Chadbourne, Karen Walton-Bowen, Gerald F. Cox.
The Journal of Pediatrics, May 2004, 144 (5): 581-588.
Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease.
Max Josef Hilz, Edwin H. Kolodny, Miroslaw Brys, B. Stemperrigitte, Thomas Haendl, Harald Marthol.
Journal of Neurology 2004, 251 (5): 564-570.
Neuropsychological assessment of patients with late onset GM2 gangliosidosis.
C. M. Zaroff, Orit Neudorfer, C. Morrison, G. M. Pastores, H. Rubin, E. H. Kolodny.
Neurology, 2004, 62 (12): 2283-2286.
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.
Neal J. Weinreb, C. Mario Aggio, Hans C. Andersson, Generoso Andria, J. Charrow, Joe T. Clarke, A. Erikson Anders, Pilar Giraldo, Jack Goldblatt, Carla Hollak, Hiroyuki Ida, P. Kaplan Edwin H. Kolodny, P. Mistry, Gregory M. Pastores, Ricardo Pires, Ainu Prakash-Cheng, Rosenbloom Barry E, C. R. Scott, Elisa Sobreira, Anna Tylki-Szymanska, Ashok Vellodi, Stephan vom Dahl, Rebecca S. Wappner, A. Zimran. International Collaborative Gaucher Group (ICGG).
Seminars in Hematology 2004, 41 (4 Supplement 5): 15-22.
Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations.
J. Charrow, H. C. Andersson, P. Kaplan, E. H. Kolodny, P. Mistry, G. Pastores, Ainu Prakash-Cheng, Barry E. Rosenbloom, C. Ronald Scott, Rebecca S. Wappner, Neal J. Weinreb.
Journal of pediatrics, January 2004, 144 (1): 112-120
Aldurazyme (laronidase) enzyme replacement therapy for MPS I: 72-week extension data [Abstract].
A. Lorne Clarke, James E. Wraith, Michael Beck, E. H. Kolodny, G. M. Pastores, J. Muenzer.
Molecular Genetics & Metabolism, March 2004, 81 (3): 169-169
Neuropsychological assessment of patients with late onset GM2 gangliosidosis.
C. M. Zaroff, Orit Neudorfer, C. Morrison, G. M. Pastores, H. Rubin, Edwin H. Kolodny.
Neurology, 2004 Jun 22,62(12):2283-6
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.
Neal J. Weinreb, C. Mario. Aggio, Hans C. Andersson, Generoso Andria, J. Charrow, Joe T. Clarke, A. Erikson Anders, Pilar Giraldo, Jack Goldblatt, Carla Hollak, Hiroyuki Ida, P. Kaplan, Edwin H. Kolodny, P. Mistry, Gregory M. Pastores, Ricardo Pires, Ainu Prakash-Cheng, Rosenbloom Barry E, C. R. Scott, Elisa Sobreira, Anna Tylki-Szymanska, Ashok Vellodi, Stephan vom Dahl, Rebecca S. Wappner, A. Zimran. International Collaborative Gaucher Group (ICGG).
Seminars in hematology 2004, 41 (4 Supplement 5): 15-22.
Aldurazyme (laronidase) enzyme replacement therapy for mps i: 96-week extension data [abstract].
J. E. Wraith, J. Muenzer, E. H. Kolodny, G. Pastores, Michael Beck, Lorne A. Clarke.
Journal of Inherited Metabolic Disease, July, 2005, 28 (6): 182-182.
Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations.
S. Raghavan, B. Zeng, Paola A. Torres, G. M. Pastores, Edwin H. Kolodny, J. Kurtzberg, W. Krivit.
Journal of Inherited Metabolic Disease, 2005,28 (6): 1005-1009
An open-label, noncomparative study of miglustat in type I Gaucher disease: Efficacy and tolerability over 24 months of treatment.
Gregory M. Pastores, Natalie L. Barnett, Edwin H. Kolodny,
Clinical Therapeutics, August 2005, 27 (8): 1215-1227
Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients.
Orit Neudorfer, Gregory M. Pastores, Bai J. Zeng, John Gianutsos, Charles M. Zaroff, Edwin H. Kolodny.
Genetics in Medicine, February 2005, 7 (2): 119-123.
Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations.
S. Raghavan, B. Zeng, Paola A. Torres, G. M. Pastores, E. H. Kolodny, J. Kurtzberg, W. Krivit.
Journal of Inherited Metabolic Disease 2005, 28 (6): 1005-1009.
Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.
Orit Neudorfer, Gregory M. Pastores, B. Zengai J, Gianutsos John, Zaroff Charles M, Edwin H. Kolodny
Genetics in Medicine, 2005, 7 (2): 119-123.
An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment.
Gregory M. Pastores, Natalie L Barnett, Edwin H. Kolodny
Clinical Therapeutics, 2005, 27 (8): 1215-1227.
MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis.
Matilde Inglese, Annette O. Nusbaum, Gregory M. Pastores, John Gianutsos, Edwin H. Kolodny and Oded Gonen.
AJNR. American Journal of Neuroradiology, 2005, 26 (8): 2037-2042.
Bioimaging in Neurodegeneration.
P. A. Broderick, D. N. Rahni and E. H. Kolodny, editors. Totowa : Humana Press Inc., 2005.
A phase 3 extension study of Aldurazyme (R) (laronidase) in mucopolysaccharidosis I (MPS I) [Abstract].
A. Lorne Clarke, J. E. Wraith, Michael Beck, E. H. Kolodny, G. M. Pastores, J. Muenzer.
Journal of inherited metabolic disease. 2006 AUG,29(5):28-28
Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.
Christopher G. Janson, Edwin H. Kolodny, Bai-Jin Zeng, Raghavan Srinivasa, Gregory Pastores, Paola Torres, Mitra Assadi, Scott McPhee, Olga Goldfarb, Beth Saslow Andrew Freese, D. J. Wang, Larissa Bilaniuk, David Shera, Paola Leone.
Annals of Neurology, February 2006, 59 (2): 428-431
Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.
B. Zengai-Jin, Gregory M. Pastores, Leone Paola, S. Raghavanrinivasa, Z. H. Wangao-Hui, A. Ribeiro Lucilene, Torres Paola, E. Onglton, Edwin H. Kolodny.
Advances in experimental medicine and biology 2006,576():165-73, discussion 361-3.
CNS pathology and vascular/circulatory abnormalities in Fabry disease.
Edwin H. Kolodny, Gregory M. Pastores.
Acta paediatrica (Oslo, Norway): 1992). Supplement 2006,95(451):55-6.
Leukodystrophies: clinical and genetic aspects.
Gilles Lyon, Aviva Fattal-Valevski, Edwin H. Kolodny.
Topics in magnetic resonance imaging : TMRI 2006,17(4):219-42.
Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease.
B. J. Zeng, Z. H. Wang, P. A. Torres, G. M. Pastores, Leone P, S. Raghavan S, E. H. Kolodny.
Molecular Genetics and Metabolism, 2006, 89 (1-2): 156-163.
Neuropathology of LSDs.
Ewin H. Kolodny.
Acta paediatrica (Oslo, Norway : 1992). Supplement 2007,96(455):25.
Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties.
A. Zia, E. H. Kolodny, G. M. Pastores
Journal of inherited metabolic disease 2007,30(5):817.
A phase III extension study of Aldurazyme (R) (Laronidase) in mucopolysaccharidosis I [Abstract].
A. Lorne Clarke, J. E. Wraith, Michael Beck, E. H. Kolodny, G. M. Pastores, J. Muenzer.
Clinical therapeutics, December 2007, 29(6): 111-111.
Spontaneous appearance of Tay-Sachs disease in an animal model.
B. J. Zeng, P. A. Torres, T. C. Viner, Z. H. Wang, S. Raghavan, J. Alroy, Gregory M. Pastores, E. H. Kolodny.
Molecular Genetics and Metabolism, 2008, 95 (1-2): 59-65.
Pathogenic combination or polymorphism in Pompe disease ?
M. A. Kroos, R. A. Mullaart, L. Van Vliet, R. J. Pomponio, H. Amartino, E. H. Kolodny, G. M. Pastores, R. A. Wevers, A. T. Van der Ploeg, D. J. Halley, A. J. Reuser.[G576S, E689K].
European Journal of Human Genetics, August 2008, 16 (8): 875-879.
Real Time Imaging of Biomarkers in the Parkinson's Brain Using Mini-Implantable Biosensors. II. Pharmaceutical Therapy with Bromocriptine.
Patricia A. Broderick and Edwin H. Kolodny.
Pharmaceuticals 2009, 2(3), 236-249.
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I.
Lorne A. Clarke, J Edmond Wraith, Michael Beck, Edwin H. Kolodny, Gregory M. Pastores, Joseph Muenzer, David M. Rapoport, Kenneth I. Berger, Marisa Sidman, Emil D. Kakkis, Gerald F. Cox.
Pediatrics, 2009, 123 (1): 229-240.
Acute confusional migraine may be a presenting feature of CADASIL.
Swati Sathe, Edgar DePeralta, Gregory Pastores, Edwin H. Kolodny
Headache, 2009, 49 (4): 590-596.
Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.
Aviva Fattal-Valevski, Miriam S. DiMaio, Fuki M. Hisama, Grace M. Hobson, Angelique Davis-Williams, James Y. Garbern, Maurice J. Mahoney, Edwin H. Kolodny, Gregory M. Pastores.
Journal of Child Neurology, 2009, 24 (5): 618-624.
Management of neuronopathic Gaucher disease: revised recommendations.
A. Vellodi, A. Tylki-Szymanska, E. H. Davies, E. Kolodny, B. Bembi, T. Collin-Histed, E. Mengel, A. Erikson, R. Schiffmann.
Journal of Inherited Metabolic Disease, 2009, 32 (5): 660-664.