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List of works by Edwin Hillel Kolodny

A Human Kidney cDNA Which Induces a Cell Surface Protein Epitope Recognized by a Monoclonal Antibody against Galactosylceramide

scientific article published on 01 October 1996

A neurological symptom survey of patients with type I Gaucher disease

scientific article published on January 2003

Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study

scientific article published on 10 January 2013

Acute confusional migraine may be a presenting feature of CADASIL.

scientific article published on 25 February 2009

Anderson-Fabry disease: extrarenal, neurologic manifestations

scientific article

Antisulfatide IgG Antibodies Recognize HIV Proteins ⬇️

scientific article published on 01 May 1997

Bone marrow-derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases

scientific article published on 01 November 1999

CNS pathology and vascular/circulatory abnormalities in Fabry disease

scientific article published on 01 April 2006

Cerebrovascular involvement in Fabry disease: current status of knowledge

scientific article published on 09 December 2014

Correction of the galactocerebrosidase deficiency in globoid cell leukodystrophy-cultured cells by SL3-3 retroviral-mediated gene transfer

scientific article published on January 1996

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

scientific article

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

scientific article published on January 2004

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).

scientific article published in May 2004

Enzyme replacement therapy improves cardiovascular responses to orthostatic challenge in Fabry patients

scientific article published on 01 July 2010

Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?

scientific article

Familial spastic paraparesis. Is it a mitochondrial disorder?

scientific article published on 01 January 1995

Family History in Young Patients With Stroke

scientific article published on 02 June 2015

Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient population

scientific article published on 14 November 2015

G(M2)-ganglioside metabolism in situ in mucolipidosis IV fibroblasts

scientific article published on 01 April 1999

GM1-gangliosidosis in American black bears: clinical, pathological, biochemical and molecular genetic characterization

scientific article

GM2 gangliosidosis in British Jacob sheep.

scientific article published on 23 October 2013

GM2-ganglioside metabolism in cultured human skin fibroblasts: unambiguous diagnosis of GM2-gangliosidosis

scientific article published on 01 April 1985

GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures

scientific article

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients

scientific article published on 01 October 2004

Gaucher disease: Basic and translational science needs for more complete therapy and management

scientific article published on 29 December 2020

Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations

scientific article published in January 2005

Headache as a symptom at stroke onset in 4,431 young ischaemic stroke patients. Results from the "Stroke in Young Fabry Patients (SIFAP1) study".

scientific article

Hippocampal atrophy as a surrogate of neuronal involvement in Fabry disease ⬇️

scientific article published on September 20, 2011

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease

scientific article published on 01 November 2002

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

scientific article published in August 1999

Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis

scientific article published on 01 September 2000

Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase ⬇️

scientific article published on November 2, 2012

Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene

scientific article published on 01 August 1996

Late-onset Tay-Sachs disease

scientific article published on 01 February 2004

Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients

scientific article published in February 2005

Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients

scientific article published in August 2008

Lessons from everyday stroke care for clinical research and vice versa: comparison of a comprehensive and a research population of young stroke patients

scientific article

Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease

scientific article

Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry

scientific article

MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis

scientific article

Management of neuronopathic Gaucher disease: revised recommendations

scientific article published on 05 August 2009

Metabolic activities in human skin fibroblasts preloaded with labeled GM2-ganglioside

scientific article published in January 1987

Metronomic breathing shows altered parasympathetic baroreflex function in untreated Fabry patients and baroreflex improvement after enzyme replacement therapy

scientific article published on 01 December 2011

Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment

scientific article

Mitochondrial encephalomyopathies presenting with features of autonomic and visceral dysfunction

scientific article published on 01 April 1996

Molecular basis of late-life globoid cell leukodystrophy

scientific article (publication date: 1999)

Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy

scientific article

Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry

scientific article published on 19 January 2010

Nonuniform deficiency of hexosaminidase A in tissues and fluids of two unrelated individuals

scientific article published on 01 March 1982

Patent Foramen Ovale and Cryptogenic Strokes in the Stroke in Young Fabry Patients Study

scientific article

Pathology of GM2 Gangliosidosis in Jacob Sheep ⬇️

scientific article published on December 1, 2010

Phenotypic Spectrum of Hematological and Visceral Disease in Type 3 Gaucher Disease and Response to Imiglucerase Therapy: Preliminary Analysis from the ICGG Gaucher Registry

scientific article

Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients

scientific article published on 01 January 1982

Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV.

scientific article published in January 2001

Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease

scientific article published on 18 July 2006

Re: Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study

scientific article published on 01 April 2009

Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease.

scientific article published in May 2004

Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues

scientific article published on 12 November 2016

Spontaneous appearance of Tay-Sachs disease in an animal model

scientific article published on 9 August 2008

Substitution of Alanine543 with a Threonine Residue at the Carboxy Terminal End of the β-Chain Is Associated with Thermolabile Hexosaminidase B in a Jewish Family of Oriental Ancestry

scientific article published on 01 October 1995

Tay-Sachs disease in Jacob sheep ⬇️

scientific article published on August 14, 2010

Therapeutic effects of astrocytes expressing both tyrosine hydroxylase and brain-derived neurotrophic factor on a rat model of Parkinson's disease

scientific article published in January 2002

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

scientific article published on 31 May 2017

Two abnormalities of hexosaminidase A in clinically normal individuals.

scientific article

Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties

scientific article published on 19 May 2007

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