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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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Non-neuronopathic Gaucher disease due to saposin C deficiency

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

2007

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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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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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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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Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

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

2006

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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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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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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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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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Perinatal-lethal Gaucher disease

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

2003

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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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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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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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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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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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Targeted Disruption of the Mouse Sphingolipid Activator Protein Gene: A Complex Phenotype, Including Severe Leukodystrophy and Wide-Spread Storage of Multiple Sphingolipids

Human molecular genetics, 1996-06, Vol.5 (6), p.711-725

1996

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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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Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations

Human genetics, 2001-07, Vol.109 (1), p.24-32

2001

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Sphingosylphosphorylcholine in Niemann-Pick disease brain : Accumulation in type A but not in type B

Neurochemical research, 1999-02, Vol.24 (2), p.199-205

1999

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Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse

Human molecular genetics, 2000-04, Vol.9 (7), p.1087-1092

2000

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Isolation of NPC1-Deficient Chinese Hamster Ovary Cell Mutants by Gene Trap Mutagenesis

Journal of biochemistry (Tokyo), 2001-06, Vol.129 (6), p.875-880

2001

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Niemann-Pick disease type C

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

Non-neuronopathic Gaucher disease due to saposin C deficiency

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

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

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

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

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

The adult form of Niemann–Pick disease type C

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

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

Perinatal-lethal Gaucher disease

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)

Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy

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

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

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

Targeted Disruption of the Mouse Sphingolipid Activator Protein Gene: A Complex Phenotype, Including Severe Leukodystrophy and Wide-Spread Storage of Multiple Sphingolipids

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

Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations

Sphingosylphosphorylcholine in Niemann-Pick disease brain : Accumulation in type A but not in type B

Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse

Isolation of NPC1-Deficient Chinese Hamster Ovary Cell Mutants by Gene Trap Mutagenesis

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