Marie‐thérèse Vanier

Marie‐thérèse Vanier's AcademicInfluence.com Rankings

Biology

#11138

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#14515

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Cell Biology

#548

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#561

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Genetics

#1193

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#1294

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Molecular Biology

#1682

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#1711

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Marie‐thérèse Vanier's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. (1997) (1404)
Identification of HE1 as the second gene of Niemann-Pick C disease. (2000) (814)
Niemann-Pick disease type C (2003) (679)
Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression (2009) (402)
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. (2012) (402)
The Niemann-Pick C1 Protein Resides in a Vesicular Compartment Linked to Retrograde Transport of Multiple Lysosomal Cargo* (1999) (372)
A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. (1985) (360)
The adult form of Niemann-Pick disease type C. (2006) (352)
Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport. (2004) (333)
Krabbe disease: a galactosylsphingosine (psychosine) lipidosis. (1980) (282)
DEVELOPMENTAL PROFILES OF GANGLIOSIDES IN HUMAN AND RAT BRAIN (1971) (265)
Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. (1991) (218)
Recommendations on the diagnosis and management of Niemann-Pick disease type C. (2009) (217)
Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. (1996) (212)
Complex lipid trafficking in Niemann-Pick disease type C (2015) (206)
Secondary lipid accumulation in lysosomal disease. (2009) (206)
Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes. (1988) (195)
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. (2001) (192)
Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy. (1998) (190)
Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype. (1999) (190)
Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease (2015) (178)
Group C Niemann‐Pick disease: faulty regulation of low‐density lipoprotein uptake and cholesterol storage in cultured fibroblasts (1987) (178)
PART 16 : LYSOSOMAL DISORDERS Chapter 145 : Niemann-Pick Disease Type C : A Lipid Trafficking Disorder (2007) (175)
Niemann‐Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients (1988) (175)
Lipid Changes in Niemann-Pick Disease Type C Brain: Personal Experience and Review of the Literature (1999) (173)
Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen. (1983) (172)
Consensus clinical management guidelines for Niemann-Pick disease type C (2018) (172)
Type C Niemann-Pick disease. Abnormal metabolism of low density lipoprotein in homozygous and heterozygous fibroblasts. (1986) (150)
The distribution of lipids in the human nervous system. II. Lipid composition of human fetal and infant brain. (1972) (147)
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. (2001) (146)
A Prospective, Cross-sectional Survey Study of the Natural History of Niemann-Pick Disease Type B (2008) (143)
Improved Behavior and Neuropathology in the Mouse Model of Sanfilippo Type IIIB Disease after Adeno-Associated Virus-Mediated Gene Transfer in the Striatum (2004) (136)
Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes. (2011) (135)
Disease and patient characteristics in NP-C patients: findings from an international disease registry (2013) (133)
Niemann-Pick diseases. (2013) (131)
The natural history of Niemann–Pick disease type C in the UK (2007) (131)
Genistein Improves Neuropathology and Corrects Behaviour in a Mouse Model of Neurodegenerative Metabolic Disease (2010) (130)
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma. (2003) (125)
Recent Advances in Elucidating Niemann‐Pick C Disease (1998) (124)
Niemann–Pick C disease in Spain: Clinical spectrum and development of a disability scale (2006) (124)
Early Neurodegeneration Progresses Independently of Microglial Activation by Heparan Sulfate in the Brain of Mucopolysaccharidosis IIIB Mice (2008) (120)
The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol. (1994) (119)
Structure and function of the NPC2 protein. (2004) (117)
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review. (2016) (116)
Linkage of Niemann-Pick disease type C to human chromosome 18. (1993) (116)
Type C Niemann-Pick disease. A parallel loss of regulatory responses in both the uptake and esterification of low density lipoprotein-derived cholesterol in cultured fibroblasts. (1986) (114)
A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations. (2012) (107)
Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. (2006) (106)
Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneity. (1991) (103)
Type C Niemann-Pick disease: use of hydrophobic amines to study defective cholesterol transport. (1991) (102)
Recommendations for the detection and diagnosis of Niemann-Pick disease type C (2017) (102)
AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy. (2005) (101)
Neuropathology of the Mcoln1−/− Knockout Mouse Model of Mucolipidosis Type IV (2009) (100)
Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test. (2015) (98)
Gene therapy of the brain in the dog model of Hurler's syndrome (2006) (98)
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations (2001) (95)
Prevention of neuropathology in the mouse model of hurler syndrome (2004) (95)
Sphingosylphosphorylcholine in Niemann-Pick Disease Brain: Accumulation in Type A But Not in Type B (1999) (93)
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann–Pick disease type A/B and C (2006) (91)
Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting. (2010) (91)
Abnormal cholesterol metabolism in imipramine-treated fibroblast cultures. Similarities with Niemann-Pick type C disease. (1990) (88)
The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients (2012) (87)
Non‐neuronopathic Gaucher disease due to saposin C deficiency (2007) (87)
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review (2013) (85)
Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia (2006) (84)
Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disorders. (1994) (84)
Symptomatology of late onset Krabbe's leukodystrophy: the European experience. (1991) (81)
Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophy. (2006) (79)
Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families. (2005) (78)
Miglustat Improves Purkinje Cell Survival and Alters Microglial Phenotype in Feline Niemann-Pick Disease Type C (2012) (78)
Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts (2000) (77)
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study (2015) (76)
Lipid alterations in apparently normal white matter in multiple sclerosis. (1971) (75)
Type C Niemann-Pick disease: a murine model of the lysosomal cholesterol lipidosis accumulates sphingosine and sphinganine in liver. (1992) (72)
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C (1999) (72)
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study (2005) (72)
24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy. (2009) (71)
Biochemical studies in Niemann‐Pick disease. III: In vitro and in vivo assays of sphingomyelin degradation in cultured skin fibroblasts and amniotic fluid cells for the diagnosis of the various forms of the disease (1985) (67)
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C (2012) (67)
The assay of sphingolipid hydrolases in white blood cells with labelled natural substrates. (1979) (66)
Sphingomyelinase activities of various human tissues in control subjects and in Niemann-Pick disease - development and evaluation of a microprocedure. (1980) (65)
Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein. (2004) (65)
Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice. (2012) (64)
Efficacy and ototoxicity of different cyclodextrins in Niemann–Pick C disease (2016) (62)
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 (2006) (61)
CHEMICAL PATHOLOGY OF KRABBE'S DISEASE (1975) (60)
Globoid cell leukodystrophy in cairn and West Highland white terriers. (1999) (58)
Prenatal diagnosis of Niemann-Pick type C disease: current strategy from an experience of 37 pregnancies at risk. (1992) (57)
The distribution of lipids in the human nervous system. 3. Fatty acid composition of phosphoglycerides of human foetal and infant brain. (1973) (57)
Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease). (2001) (56)
Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, Krabbe disease) in rhesus monkeys (Macaca mulatta). (1998) (56)
Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer (2007) (55)
Chemical pathology of Krabbe disease: the occurrence of psychosine and other neutral sphingoglycolipids. (1976) (54)
Macrophages Counteract Demyelination in a Mouse Model of Globoid Cell Leukodystrophy (2011) (54)
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease (2017) (53)
Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation group (1998) (53)
Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in‐frame start codon (2004) (52)
Expression of specific tau exons in normal and tumoral pancreatic acinar cells. (1998) (51)
Endosomal Accumulation of Toll-Like Receptor 4 Causes Constitutive Secretion of Cytokines and Activation of Signal Transducers and Activators of Transcription in Niemann–Pick Disease Type C (NPC) Fibroblasts: A Potential Basis for Glial Cell Activation in the NPC Brain (2007) (51)
Endosomal/lysosomal processing of gangliosides affects neuronal cholesterol sequestration in Niemann-Pick disease type C. (2011) (48)
Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders (2013) (48)
Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa (1993) (47)
Glucosylceramidase Mass and Subcellular Localization Are Modulated by Cholesterol in Niemann-Pick Disease Type C* (2004) (46)
Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency. (2008) (45)
Late onset Krabbe's leukodystrophy: a report of four cases. (1991) (43)
Niemann-Pick disease type C: An update (1991) (42)
Niemann–Pick type C disease in a 68-year-old patient (2006) (42)
Glyceraldehyde-3-phosphate dehydrogenase is a microtubule binding protein in a human colon tumor cell line. (1989) (40)
Deficiencies in sex-regulated expression and levels of two hepatic sterol carrier proteins in a murine model of Niemann-Pick type C disease. (1992) (40)
Adult-onset Niemann-Pick type C disease. Clinical, biochemical, and genetic study. (1997) (40)
The juvenile and chronic forms of GM2 gangliosidosis (1990) (40)
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry (2020) (40)
Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C) (1984) (39)
CHEMICAL PATHOLOGY OF KRABBE'S DISEASE (1975) (39)
Isolation of NPC1-deficient Chinese hamster ovary cell mutants by gene trap mutagenesis. (2001) (39)
Prenatal diagnosis of Niemann–Pick diseases types A, B and C (2002) (39)
Modulation of protein kinase C by endogenous sphingosine: inhibition of phorbol dibutyrate binding in Niemann-Pick C fibroblasts. (1997) (38)
Niemann-pick variant disorders: comparison of errors of cellular cholesterol homeostasis in group D and group C fibroblasts. (1987) (38)
Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease (2013) (37)
Phenotypic and genetic heterogeneity in Niemann-Pick disease type C: current knowledge and practical implications. (1997) (36)
Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue. (2008) (35)
Type C Niemann-Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol. (1991) (35)
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect (2018) (34)
Cholesterol depletion facilitates ubiquitylation of NPC1 and its association with SKD1/Vps4 (2006) (34)
Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation. (2005) (33)
Expression and localisation of insulin receptor substrate 2 in normal intestine and colorectal tumours. Regulation by intestine-specific transcription factor CDX2 (2009) (33)
Effect of tricyclic antidepressants on sphingomyelinase and other sphingolipid hydrolases in C6 cultured glioma cells (1983) (33)
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA). (2009) (33)
Correction: Disease and patient characteristics in NP-C patients: findings from an international disease registry (2013) (32)
Sites and temporal changes of gangliosides GM1/GM2 storage in the Niemann–Pick disease type C mouse brain (2001) (31)
The distribution of lipids in the human nervous system. IV. Fatty acid composition of major sphingolipids of human infant brain. (1973) (31)
Lipid and fatty acid composition of human cerebral myelin during development. (1978) (31)
Biochemistry and neuropathology of mice doubly deficient in synthesis and degradation of galactosylceramide (2000) (30)
Bone marrow transplantation for feline mucopolysaccharidosis I. (2007) (28)
Cdx2 homeoprotein inhibits non-homologous end joining in colon cancer but not in leukemia cells (2011) (28)
Different missense mutations in histidine‐108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals (1998) (28)
Niemann-Pick C disease: cystine and lipids accumulate in the murine model of this lysosomal cholesterol lipidosis. (1993) (27)
Accumulation of GM2 Ganglioside in Niemann-Pick Disease Type C Fibroblasts (1996) (27)
Niemann‐Pick type C disease: Subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations (2005) (27)
Deficient ferritin immunoreactivity in tissues from niemann-pick type C patients: extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group. (2000) (26)
Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy. (1996) (26)
Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study (2020) (26)
Fatal liver failure in two children with Niemann-Pick disease type B. (1991) (25)
[A fatal respiratory form of type C Niemann-Pick disease]. (1990) (25)
Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures. (2002) (24)
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. (1995) (24)
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry (2019) (24)
Use of leukocytes in diagnosis of Krabbe disease and detection of carriers. (1981) (23)
The tumor suppressor CDX2 opposes pro-metastatic biomechanical modifications of colon cancer cells through organization of the actin cytoskeleton. (2017) (23)
Niemann‐Pick disease type B: first‐trimester prenatal diagnosis on chorionic villi and biochemical study of a foetus at 12 weeks of development (1985) (21)
Adult Niemann-Pick disease type C mimicking features of multiple sclerosis (1997) (21)
Twitcher mice with only a single active galactosylceramide synthase gene exhibit clearly detectable but therapeutically minor phenotypic improvements (2000) (21)
Talin Concentrates to the Midbody Region During Mammalian Cell Cytokinesis (1999) (21)
Partial blockage of sterol biosynthesis with a squalene synthase inhibitor in early postnatal Niemann-Pick type C npc nih null mice brains reduces neuronal cholesterol accumulation, abrogates astrogliosis, but may inhibit myelin maturation (2008) (20)
Transgenic introduction of human galactosylceramidase into twitcher mouse: Significant phenotype improvement with a minimal expression (1997) (20)
Type C Niemann-Pick disease: dimethyl sulfoxide moderates abnormal LDL-cholesterol processing in mutant fibroblasts. (1989) (19)
Neurovisceral storage disorder simulating Niemann-Pick disease. A new form of oligosaccharidosis? (1978) (19)
Cirrhosis and liver failure: expanding phenotype of Acid sphingomyelinase-deficient niemann-pick disease in adulthood. (2014) (18)
Brain Gangliosides in Krabbe Disease (1972) (18)
CHEMICAL PATHOLOGY OF KRABBE'S DISEASE I. Lipid Composition and Fatty Acid Patterns of Phosphoglycerides in Brain (1974) (18)
Bone marrow transplantation in metachromatic leukodystrophy caused by saposin-B deficiency: a case report with a 3-year follow-up period. (1998) (17)
Normalisation of brain spectroscopy findings in Niemann–Pick disease type C patients treated with miglustat (2016) (17)
DIAGNOSIS OF NIEMANN-PICK DISEASE TYPE C ON CHORIONIC VILLUS CELLS (1989) (17)
Prenatal diagnosis of Krabbe disease (1981) (16)
Pathophysiological Approach of Niemann-Pick Disease Type C: Definition of a Biochemical Heterogeneity and Reevaluation of the Lipid Storage Process (1988) (15)
Niemann–Pick disease type C and defective peroxisomal β-oxidation of branched-chain substrates (1998) (15)
[Niemann-Pick C disease: history, current research topics, biological and molecular diagnosis]. (2010) (15)
A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate (1994) (14)
Sphingomyelinase and Niemann-Pick Disease (1986) (13)
Fine-tuning and autoregulation of the intestinal determinant and tumor suppressor homeobox gene CDX2 by alternative splicing (2017) (13)
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation (2020) (13)
Intrathecal cyclodextrin therapy of feline Niemann-Pick Type C disease (2011) (12)
Distinct mechanisms for opposite functions of homeoproteins Cdx2 and HoxB7 in double-strand break DNA repair in colon cancer cells. (2016) (12)
A new variant of sphingomyelinase deficiency (Niemann-Pick): visceromegaly, minimal neurological lesions and lowin vivo degradation rate of sphingomyelin (1986) (12)
Fetal Niemann-Pick disease type C: Ultrastructural and lipid findings in liver and spleen (2005) (12)
[Isolated spastic paraparesis disclosing Krabbe disease in adult age]. (1997) (12)
[Early infantile, cholestatic, rapidly-fatal form of type C sphingomyelinosis. 2 cases]. (1979) (12)
Structure and function of gangliosides. Vol. 125, Advances in experimental medicine and biology par L. Svennerholm, P. Mandel, M. Dreyfus et P. F. Urban (Plenum Press, London). 49 dollars (1980) (12)
Collaborative Study of the Molecular Epidemiology of Tay-Sachs Disease in Europe (1993) (11)
Chromatofocusing of skin fibroblast sphingomyelinase: alterations in Niemann-Pick disease type C shared by GM1-gangliosidosis. (1983) (11)
CDX2 in Congenital Gut Gastric-Type Heteroplasia and Intestinal-Type Meckel Diverticula (2010) (11)
Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice (2018) (10)
Disorders of Sphingolipid Metabolism and Neuronal Ceroid-Lipofuscinoses (2012) (10)
Oscillating Ca2+-Induced Channel Activity Obtained in BLM with a Mitochondrial Membrane Component (1997) (10)
Microtubule affinity chromatography: a new technique for isolating microtubule-binding proteins from rat pancreas. (1991) (10)
The Spectrum of Niemann-Pick Type C Disease in Greece. (2017) (9)
[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2]. (2005) (9)
In vitro assembly of rat pancreas tubulin in the presence of taxol. (1986) (9)
Lipid metabolism and oxygen consumption in a hereditary demyelinating neuropathy, the trembler mouse: An in vitro study (1981) (9)
Characterization of a 67 kDa microtubule-binding protein in the pancreas from different species. (1992) (8)
Biochemical and immunochemical identification of a microtubule-binding protein from bovine pancreas. (1993) (8)
Drastically Abnormal Gluco- and Galactosylceramide Composition Does Not Affect Ganglioside Metabolism in the Brain of Mice Deficient in Galactosylceramide Synthase (2004) (8)
Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations (2017) (8)
Chromatofocusing of purified placental sphingomyelinase. (1983) (8)
Purification of tubulin from rat pancreas. (1983) (7)
An Unusual Homozygous Arylsulfatase: A Pseudodeficiency in a Metachromatic Leukodystrophy Tunisian Patient (2010) (7)
[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases]. (2017) (7)
Preparation of an anti-acid sphingomyelinase monoclonal antibody for the quantitative determination and polypeptide analysis of lysosomal sphingomyelinase in fibroblasts from normal and Niemann-Pick type A patients. (1993) (6)
Biochemical studies in sphingomyelin storage disorders. (1978) (6)
Chemical pathology of krabbe's disease. IV. Studies of galactosylceramide and lactosylceramide BETA-galactosidases in brain, white blood cells and aminotic fluid cells. (1975) (6)
The place of fetal liver transplantation in the treatment of inborn errors of metabolism (1991) (6)
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations (2019) (6)
GD3- and O-acetylated GD3-gangliosides in the GM2 synthase-deficient mouse brain and their immunohistochemical localization (2006) (6)
Presence of immunoreactive material in Niemann-Pick type A placenta using anti-sphingomyelinase rabbit gammaglobulins. (1987) (6)
Prevalence of Cancer in Acid Sphingomyelinase Deficiency (2021) (6)
Lysosomal and Peroxisomal Diseases (1999) (5)
Pathomechanisms in Lysosomal Storage Disorders (2015) (5)
Expression and distribution of distinct variants of E-MAP-115 during proliferation and differentiation of human intestinal epithelial cells. (2003) (5)
Disorders of Sphingolipid Metabolism (2006) (5)
Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid Lipofuscinoses (2016) (5)
Lysosomal diseases: biochemical pathways and investigations. (2013) (5)
Immunological Studies on Acidic Sphingomyelinase (1986) (4)
Pancreatic tau related maps: Biochemical and immunofluorescence analysis in a tumoral cell line (1995) (4)
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR) (2021) (4)
[Galactosialidosis with Kayser-Fleischer's ring]. (1992) (4)
[Presentation of Niemann-Pick type C disease with psychiatric disturbance in an adult]. (2005) (4)
In situ localization with digoxigenin-labelled probes of tau-related mRNAs in the rat pancreas (1995) (4)
CHEMICAL PATHOLOGY OF KRABBE'S DISEASE II. Futty Acid Composition of Cerebrosides, Sulfatides and Sphingomyrlins in Brain (1974) (3)
[X-linked adrenoleukodystrophy in a female proband: clinical presentation, biological diagnosis and family consequences]. (2005) (3)
Rat pancreas actin: purification and characterization. (1983) (3)
[Cataplexy revealing an atypical form of Niemann-Pick disease type C]. (1991) (3)
Niemann-Pick C disease : insight from studies on mutated NPC1 gene and protein (1999) (3)
Family with Profound Sphingomyelinase Deficiency Resisting Closer Subclassification (1988) (3)
Niemann-Pick disease type C: Genetic heterogeneity (1994) (2)
Constitutional WT 1 mutations correlate with clinical features in children with progressive nephropathy (2000) (2)
Intracisternal cyclodextrin ameliorates neurological dysfunction, increases survival time, and stops Purkinje cell death in feline Niemann–Pick type C1 disease (2015) (2)
Niemann-Pick disease type C. (2003) (2)
[GM2-Gangliosidosis variant B1 disclosed during adolescence by an isolated multi-systemic involvement of the central and peripheral nervous systems]. (1994) (2)
Longitudinal data from the international registry for Niemann-Pick disease type C (NPC) (2014) (2)
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type. (2017) (2)
Reviewdisease type C (2010) (1)
P05.4 Brain gene therapy for Metachromatic Leukodystrophy: from bench to bedside (2011) (1)
Different cyclodextrins for the treatment of Niemann-Pick disease type C (2016) (1)
The natural history of Niemann–Pick disease type C in the UK (2007) (1)
Diagnostic testing (enzyme and mutational analysis) (2013) (1)
429. AAV5-Mediated Delivery of Human Aryl Sulfatase A (hARSA) Prevents Sufatide Storage and Neuropathological Phenotype in Metachromatic Leukodystrophy (MLD) Mice (2005) (1)
Identification of s 67kDa thermostable microtubule‐associated protein from rat pancreas (1991) (0)
Genetic Heterogeneity inNiemann-Pick C Disease: A StudyUsing Somatic CellHybridization andLinkage Analysis (1996) (0)
Acid sphingomyelinase deficiency: Epidemiologic and genetic aspects of a French cohort 1974–2021 (2023) (0)
Cerebellar Ataxia and Elevated Cerebrospinal Free Sialic Acid (2009) (0)
Neuronal accumulation of lysobisphosphatidic acid in mice deficient for the lysosomal protease cathepsin D (2007) (0)
Disease severity scoring system for acid sphingomyelinase deficiency: Severity score domains and components (2018) (0)
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: A national French retrospective study (2017) (0)
Update Added in Proof (1999) (0)
Screening of degradative enzymes from articular cartilage in experimental osteoarthritis (1987) (0)
[Infantile form of Gaucher's disease. Clinical and biological studies in 1 case. Prenatal diagnosis in 2 further normal pregnancies]. (1978) (0)
867 An Alternative Splicing/Translation Variant Fine-Tunes the Activity of the Homeotic Transcription Factor CDx2 in the Gut (2010) (0)
Type c niemann pick disease deficient intracellular transport of cholesterol (1988) (0)
[Krabbe's disease]. (1977) (0)
Su1866 The CDx2 Homeoprotein Inhibits DNA Repair by Non-Homologous End Joining Specifically in Colon Cancer but Not in Leukemia Cells (2012) (0)
Type B Niemann-Pick Disease: FindingsatChestRadiography,Thin- SectionCT,andPulmonaryFunction (2006) (0)
Baseline data from a prospective international disease registry for Niemann-Pick disease type C (2011) (0)
A retrospective multicentric study on 34 patients with Niemann-Pick type C disease and early liver involvement in France. (2022) (0)
Expression spatio-temporelle d'isoformes de E-MAP-115 au cours de la proliferation/differenciation des cellules Caco-2 (2008) (0)
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type (2018) (0)
[Sphingomyelinase deficiency (Niemann-Pick) type A. A new variant with an unusually prolonged course]. (1988) (0)
ReviewNiemann-Pick disease type C (2015) (0)
PP4.0 – 1506 Longitudinal outcomes from the international disease registry for Niemann-Pick disease type C (NP-C) (2013) (0)
Novel NPC 1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease : molecular study in the extended pedigree and clinical correlations (2018) (0)
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B) (2023) (0)
Update From the International Registry for Niemann-Pick Disease Type C (NP-C) in Clinical Practice (2012) (0)
P281 Designing a disease registry for Niemann Pick disease type C (2009) (0)
The occurrence of III3-alpha-fucosyllactoneotetraosylceramide in human brain. (1980) (0)
Foreword (2002) (0)
In situ localization with digoxigenin-labelled probes of tau-related mRNAs in the rat pancreas (2004) (0)
[Sphingolipidosis. Recent progress in biochemical diagnosis. New pathogenic approaches]. (1988) (0)
LateonsetKrabbe's leukodystrophy: (1991) (0)
Niemann-Pick Disease Type C: A Lesion in Intracellular Cholesterol Transport (1988) (0)
141. Cyclodextrin treatment not only delays but also reduces established intraneuronal storage in Niemann–Pick type C disease (2010) (0)
46. The natural history of Niemann–Pick disease type C (2008) (0)
Overview of Niemann-Pick type C disease in France 1975–2020: Evolution in diagnostic strategy, molecular genetics profiles and phenotypic correlations (2023) (0)
[Clinical, ultrastructural and biochemical study of a case of GM1 type 2 gangliosidosis]. (1975) (0)

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