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Long-term Improvements in Lifespan and Pathology in CNS and PNS After BMT Plus One Intravenous Injection of AAVrh10-GALC in Twitcher Mice

Molecular therapy, 2015-11, Vol.23 (11), p.1681-1690

2015

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Krabbe disease: One Hundred years from the bedside to the bench to the bedside

Journal of neuroscience research, 2016-11, Vol.94 (11), p.982-989

2016

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Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

Orphanet journal of rare diseases, 2018-02, Vol.13 (1), p.30-30, Article 30

2018

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AAVrh10 Gene Therapy Ameliorates Central and Peripheral Nervous System Disease in Canine Globoid Cell Leukodystrophy (Krabbe Disease)

Human gene therapy, 2018-07, Vol.29 (7), p.785-801

2018

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Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months

Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.46-46, Article 46

2019

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Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Genetics in medicine, 2016-03, Vol.18 (3), p.239-248

2016

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Enzyme replacement therapy of a novel humanized mouse model of globoid cell leukodystrophy

Experimental neurology, 2015-09, Vol.271, p.36-45

2015

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Conditions for combining gene therapy with bone marrow transplantation in murine Krabbe disease

Bioimpacts, 2020-01, Vol.10 (2), p.105-115

2020

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Can early treatment of twitcher mice with high dose AAVrh10-GALC eliminate the need for BMT?

Bioimpacts, 2021-01, Vol.11 (2), p.135-146

2021

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Advances in the Diagnosis and Treatment of Krabbe Disease

International journal of neonatal screening, 2021-08, Vol.7 (3), p.57

2021

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The Lysosomal Diseases Testing Laboratory: A review of the past 47 years

JIMD reports, 2020-07, Vol.54 (1), p.61-67

2020

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Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy

Gene, 2013-11, Vol.530 (2), p.323-328

2013

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A closer look at ARSA activity in a patient with metachromatic leukodystrophy

Molecular genetics and metabolism reports, 2019-06, Vol.19, p.100460, Article 100460

2019

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Psychosine-induced apoptosis in a mouse oligodendrocyte progenitor cell line is mediated by caspase activation

Neuroscience letters, 2004-04, Vol.358 (3), p.205-209

2004

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Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood‐onset beta‐mannosidosis

Molecular genetics & genomic medicine, 2019-07, Vol.7 (7), p.e00712-n/a

2019

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Rare Saposin A deficiency: Novel variant and psychosine analysis

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.161-164

2020

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Galactocerebrosidase-Deficient Oligodendrocytes Maintain Stable Central Myelin by Exogenous Replacement of the Missing Enzyme in Mice

Proceedings of the National Academy of Sciences - PNAS, 2005-12, Vol.102 (51), p.18670-18675

2005

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AAV2/5 Vector Expressing Galactocerebrosidase Ameliorates CNS Disease in the Murine Model of Globoid-cell Leukodystrophy more Efficiently than AAV2

Molecular therapy, 2005-09, Vol.12 (3), p.422-430

2005

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Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Rich Luminal Loop

American journal of human genetics, 2001-06, Vol.68 (6), p.1373-1385

2001

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AAV-Mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy

Molecular therapy, 2005-05, Vol.11 (5), p.734-744

2005

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Extended Normal Life After AAVrh10-mediated Gene Therapy in the Mouse Model of Krabbe Disease

Molecular therapy, 2012-11, Vol.20 (11), p.2031-2042

2012

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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy

The New England journal of medicine, 1998-04, Vol.338 (16), p.1119-1127

1998

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Intrinsic resistance of neural stem cells to toxic metabolites may make them well suited for cell non‐autonomous disorders: evidence from a mouse model of Krabbe leukodystrophy

Journal of neurochemistry, 2006-06, Vol.97 (6), p.1585-1599

2006

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Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State

Genetics in medicine, 2016-12, Vol.18 (12), p.1235-1243

2016

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Krabbe disease: Are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations?

Molecular genetics and metabolism, 2014-03, Vol.111 (3), p.307-308

2014

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Long-term Improvements in Lifespan and Pathology in CNS and PNS After BMT Plus One Intravenous Injection of AAVrh10-GALC in Twitcher Mice

Krabbe disease: One Hundred years from the bedside to the bench to the bedside

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

AAVrh10 Gene Therapy Ameliorates Central and Peripheral Nervous System Disease in Canine Globoid Cell Leukodystrophy (Krabbe Disease)

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Enzyme replacement therapy of a novel humanized mouse model of globoid cell leukodystrophy

Conditions for combining gene therapy with bone marrow transplantation in murine Krabbe disease

Can early treatment of twitcher mice with high dose AAVrh10-GALC eliminate the need for BMT?

Advances in the Diagnosis and Treatment of Krabbe Disease

The Lysosomal Diseases Testing Laboratory: A review of the past 47 years

Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy

A closer look at ARSA activity in a patient with metachromatic leukodystrophy

Psychosine-induced apoptosis in a mouse oligodendrocyte progenitor cell line is mediated by caspase activation

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood‐onset beta‐mannosidosis

Rare Saposin A deficiency: Novel variant and psychosine analysis

Galactocerebrosidase-Deficient Oligodendrocytes Maintain Stable Central Myelin by Exogenous Replacement of the Missing Enzyme in Mice

AAV2/5 Vector Expressing Galactocerebrosidase Ameliorates CNS Disease in the Murine Model of Globoid-cell Leukodystrophy more Efficiently than AAV2

Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Rich Luminal Loop

AAV-Mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy

Extended Normal Life After AAVrh10-mediated Gene Therapy in the Mouse Model of Krabbe Disease

Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy

Intrinsic resistance of neural stem cells to toxic metabolites may make them well suited for cell non‐autonomous disorders: evidence from a mouse model of Krabbe leukodystrophy

Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State

Krabbe disease: Are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations?

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