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Niemann-Pick disease type C

Clinical genetics, 2003-10, Vol.64 (4), p.269-281

2003

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Identification of HE1 as the Second Gene of Niemann-Pick C Disease

Science (American Association for the Advancement of Science), 2000-12, Vol.290 (5500), p.2298-2301

2000

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The adult form of Niemann–Pick disease type C

Brain (London, England : 1878), 2007-01, Vol.130 (1), p.120-133

2007

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Niemann–Pick C disease in Spain: Clinical spectrum and development of a disability scale

Journal of the neurological sciences, 2006-11, Vol.249 (1), p.1-6

2006

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Non-neuronopathic Gaucher disease due to saposin C deficiency

Clinical genetics, 2007-12, Vol.72 (6), p.538-542

2007

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Combination of Phenotype Assessments and CYP2C9‐VKORC1 Polymorphisms in the Determination of Warfarin Dose Requirements in Heavily Medicated Patients

Clinical pharmacology and therapeutics, 2008-05, Vol.83 (5), p.740-748

2008

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Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

Neurology, 2006-12, Vol.67 (11), p.2066-2069

2006

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Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations

Clinical genetics, 2005-09, Vol.68 (3), p.245-254

2005

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The natural history of Niemann–Pick disease type C in the UK

Journal of inherited metabolic disease, 2007-02, Vol.30 (1), p.51-59

2007

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Genetic Evidence for Nonredundant Functional Cooperativity between NPC1 and NPC2 in Lipid Transport

Proceedings of the National Academy of Sciences - PNAS, 2004-04, Vol.101 (16), p.5886-5891

2004

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Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting

Human molecular genetics, 2010-08, Vol.19 (15), p.2987-2997

2010

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Lipid changes in Niemann-Pick disease type C brain : Personal experience and review of the literature

Neurochemical research, 1999-04, Vol.24 (4), p.481-489

VANIER, M. T

1999

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Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island

Clinical genetics, 2014-06, Vol.85 (6), p.543-547

2014

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Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2

Clinical genetics, 2007-04, Vol.71 (4), p.320-330

2007

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Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer

Gene therapy, 2007-03, Vol.14 (5), p.405-414

2007

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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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Perinatal-lethal Gaucher disease

American journal of medical genetics, 2003-07, Vol.120A (3), p.338-344

2003

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Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases

La revue de medecine interne, 2017-05, Vol.38 (5), p.291-299

2017

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Expression and localisation of insulin receptor substrate 2 in normal intestine and colorectal tumours. Regulation by intestine-specific transcription factor CDX2

Gut, 2009-09, Vol.58 (9), p.1250-1259

2009

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Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)

Brain (London, England : 1878), 2009-03, Vol.132 (3), p.801-809

2009

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Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

Molecular genetics and metabolism, 2012-07, Vol.106 (3), p.330-344

2012

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Interpretation of the Control Rod Withdrawal Test in the Sodium-Cooled Fast Reactor Phénix

Nuclear science and engineering, 2013-10, Vol.175 (2), p.109-123

2013

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Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty‐five Czech and Slovak patients. A multi‐approach study

Journal of inherited metabolic disease, 2005-01, Vol.28 (2), p.203-227

2005

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Genetic heterogeneity in Niemann-Pick C disease : A study using somatic cell hybridization and linkage analysis

American journal of human genetics, 1996, Vol.58 (1), p.118-125

1996

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Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease

Science translational medicine, 2015-02, Vol.7 (276), p.276ra26

2015

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Niemann-Pick disease type C

Identification of HE1 as the Second Gene of Niemann-Pick C Disease

The adult form of Niemann–Pick disease type C

Niemann–Pick C disease in Spain: Clinical spectrum and development of a disability scale

Non-neuronopathic Gaucher disease due to saposin C deficiency

Combination of Phenotype Assessments and CYP2C9‐VKORC1 Polymorphisms in the Determination of Warfarin Dose Requirements in Heavily Medicated Patients

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations

The natural history of Niemann–Pick disease type C in the UK

Genetic Evidence for Nonredundant Functional Cooperativity between NPC1 and NPC2 in Lipid Transport

Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting

Lipid changes in Niemann-Pick disease type C brain : Personal experience and review of the literature

Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island

Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2

Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer

Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy

Perinatal-lethal Gaucher disease

Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases

Expression and localisation of insulin receptor substrate 2 in normal intestine and colorectal tumours. Regulation by intestine-specific transcription factor CDX2

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

Interpretation of the Control Rod Withdrawal Test in the Sodium-Cooled Fast Reactor Phénix

Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty‐five Czech and Slovak patients. A multi‐approach study

Genetic heterogeneity in Niemann-Pick C disease : A study using somatic cell hybridization and linkage analysis

Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease

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