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marie vanier

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Marc C Patterson; Harir Drevon; Eugen Mengel; Audrey Muller; Barbara Schwierin; marie T vanier; Frits A Wijburg; Mercé Pineda
Correction: Disease and patient characteristics in NP-C patients: findings from an international disease registry.
marie T vanier
Niemann-Pick diseases.
marie T vanier
Lysosomal diseases: biochemical pathways and investigations.

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2013: Marc C Patterson; Harir Drevon; Eugen Mengel; Audrey Muller; Barbara Schwierin; marie T vanier; Frits A Wijburg; Mercé Pineda
Correction: Disease and patient characteristics in NP-C patients: findings from an international disease registry.
Orphanet journal of rare diseases 2013;8():73.
2013: marie T vanier
Niemann-Pick diseases.
Handbook of clinical neurology 2013;113():1717-21.
2013: marie T vanier
Lysosomal diseases: biochemical pathways and investigations.
Handbook of clinical neurology 2013;113():1695-9.
2013: Marc C Patterson; Harir Drevon; Eugen Mengel; Audrey Muller; Barbara Schwierin; marie T vanier; Frits A Wijburg; Mercé Pineda
Disease and patient characteristics in NP-C patients: findings from an international disease registry.
Orphanet journal of rare diseases 2013;8():12.
2012: Marc C Patterson; Frederic Sedel; marie T vanier; Mark Walterfang; Frits Wijburg; Christian J Hendriksz
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.
Molecular genetics and metabolism 2012;106(3):330-44.
2012: Veronika M Stein; marie T vanier; Steven U Walkley; Caroline Bryan; Alexandra Crooks; Wenge Ding; Jasper Dingemanse; Patricia O'Donnell; Maria Prociuk; Tracey Sikora; Charles H Vite
Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C.
Journal of neuropathology and experimental neurology 2012;71(5):434-48.
2012: Robert A Maue; Carlos A A Penatti; Donna M Porter; Maximillian A Rogers; Kevin Seburn; Benjamin S Szwergold; John W Totenhagen; Theodore P Trouard; marie T vanier; Bing Wang; Christine M Wooley; Ivan A Borbon; Robert W Burgess; Catherine C Chang; Ta-Yuan Chang; David J Graber; Brent T Harris; Leslie P Henderson; Robert P Erickson
A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.
Human molecular genetics 2012;21(4):730-50.
2012: Jérôme Stirnemann; Vassili Valayanopoulos; marie T vanier; Marie Vigan; Marc G Berger; Catherine Caillaud; Fabrice Camou; Christine de Roux-Serratrice; Thierry Billette de Villemeur; Dries Dobbelaere; Olivier Fain; Bruno Fantin; Roselyne Froissart; Bernard Grosbois; dalil hamroun; Djazia Heraoui; Pierre Kaminsky; Thierry Levade; Agathe Masseau; France Mentré; Cyril Mignot; Alain Robert; Christian Rose; Linda Rossi-Semerano; Frédéric Sedel; Nadia Belmatoug
The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients.
Orphanet journal of rare diseases 2012;7():77.
2012: Bénédicte Héron; François Labarthe; Philippe Latour; Hélène Maurey; Hélène Ogier; Frédéric Sedel; Vassili Valayannopoulos; Julien Baruteau; Brigitte Chabrol; Jean-Marie Cuisset; Thierry Billette de Villemeur; Dries Dobbelaere; Didier Eyer; marie T vanier
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
Orphanet journal of rare diseases 2012;7():36.
2011: Yoichi Kondo; Jessica M Adams; marie T vanier; Ian D Duncan
Macrophages counteract demyelination in a mouse model of globoid cell leukodystrophy.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2011;31(10):3610-24.
2010: Anna M Vaccaro; Marialetizia Motta; Massimo Tatti; Susanna Scarpa; Laura Masuelli; Meenakshi Bhat; marie T vanier; Anna Tylki-Szymanska; Rosa Salvioli
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;19(15):2987-97.
2010: marie T vanier
[Niemann-Pick C disease: history, current research topics, biological and molecular diagnosis].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2010;17 Suppl 2():S41-4.
2010: Marcelina Malinowska; Fiona L Wilkinson; Kia J Langford-Smith; Alexander Langford-Smith; Jillian R Brown; Brett E Crawford; marie T vanier; Grzegorz Grynkiewicz; Robert F Wynn; J Ed Wraith; Grzegorz Wegrzyn; Brian W Bigger
Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease.
PloS one 2010;5(12):e14192.
2010: marie T vanier
Niemann-Pick disease type C.
Orphanet journal of rare diseases 2010;5():16.
2009: James Wraith; Matthias R Baumgartner; Bruno Bembi; Athanasios Covanis; Thierry Levade; Eugen Mengel; Mercè Pineda; Frédéric Sedel; Meral Topçu; marie T vanier; Håkan Widner; Frits A Wijburg; Marc C Patterson
Recommendations on the diagnosis and management of Niemann-Pick disease type C.
Molecular genetics and metabolism 2009;98(1-2):152-65.
2009: Steven U Walkley; marie T vanier
Secondary lipid accumulation in lysosomal disease.
Biochimica et biophysica acta 2009;1793(4):726-36.
2009: F Mochel; F Sedel; A Vanderver; U F H Engelke; J Barritault; B Z Yang; B Kulkarni; D R Adams; F Clot; J H Ding; C R Kaneski; F W Verheijen; B W Smits; F Seguin; Alexis Brice; marie T vanier; M Huizing; R Schiffmann; A Durr; R A Wevers
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA).
Brain : a journal of neurology 2009;132(Pt 3):801-9.
2009: Matthew C Micsenyi; Kostantin Dobrenis; Gloria Stephney; James Pickel; marie T vanier; Susan A Slaugenhaupt; Steven U Walkley
Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV.
Journal of neuropathology and experimental neurology 2009;68(2):125-35.
2009: Damien Galanaud; Ayman Tourbah; Stéphane Lehéricy; Nathalie Leveque; Bénédicte Heron; Thierry Billette de Villemeur; Nathalie Guffon; François Feillet; Nicole Baumann; marie T vanier; Frédéric Sedel
24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy.
Molecular genetics and metabolism 2009;96(2):55-8.
2009: Cristin D Davidson; Nafeeza F Ali; Matthew C Micsenyi; Gloria Stephney; Sophie Renault; Kostantin Dobrenis; Daniel S Ory; marie T vanier; Steven U Walkley
Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression.
PloS one 2009;4(9):e6951.
2008: Björn Bjurulf; Signe Spetalen; Aage Erichsen; marie T vanier; Erik Strom; Petter Strømme
Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue.
Medical science monitor : international medical journal of experimental and clinical research 2008;14(8):CS71-5.
2008: Margaret M McGovern; Melissa P Wasserstein; Roberto Giugliani; Bruno Bembi; marie T vanier; Eugen Mengel; Scott E Brodie; David Mendelson; Gwen Skloot; Robert J Desnick; Noriko Kuriyama; Gerald F Cox
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.
Pediatrics 2008;122(2):e341-9.
2008: Sabrina Jabs; Arne Quitsch; Reijo Kakela; Bettina Koch; Jaana Tyynelä; Helmut Brade; Markus Glatzel; Steven U Walkley; Paul Saftig; marie T vanier; Thomas Braulke
Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis.
Journal of neurochemistry 2008;106(3):1415-25.
2008: Patrick C Reid; Song Lin; marie T vanier; Yoshiko Ohno-Iwashita; H James Harwood; William F Hickey; Catherine C Y Chang; Ta-Yuan Chang
Partial blockage of sterol biosynthesis with a squalene synthase inhibitor in early postnatal Niemann-Pick type C npcnih null mice brains reduces neuronal cholesterol accumulation, abrogates astrogliosis, but may inhibit myelin maturation.
Journal of neuroscience methods 2008;168(1):15-25.
2008: Jérôme Ausseil; Nathalie Desmaris; Stéphanie Bigou; Ruben Attali; Sébastien Corbineau; Sandrine Vitry; Mathieu Parent; David Cheillan; Maria Fuller; Irène Maire; marie T vanier; Jean Michel Heard
Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB mice.
PloS one 2008;3(5):e2296.
2008: Nicolas Deconinck; Anissa Messaaoui; France Ziereisen; Hazim Kadhim; Yves Sznajer; Karine Pelc; Marie Cécile Nassogne; marie T vanier; Bernard Dan
Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2008;12(1):46-50.
2007: A Tylki-Szymańska; Barbara Czartoryska; marie T vanier; B J H M Poorthuis; J A E Groener; A Ługowska; Gilles Millat; Anna Maria Vaccaro; Elzbieta Jurkiewicz
Non-neuronopathic Gaucher disease due to saposin C deficiency.
Clinical genetics 2007;72(6):538-42.
2007: N Matthew Ellinwood; Marie-Anne Colle; Margaret A Weil; Margret L Casal; Charles H Vite; Staci P Wiemelt; Christopher W Hasson; Thomas M O'Malley; Xingxuan He; Ulana Prociuk; Lucie Verot; John R Melniczek; Anne Lannon; Gustavo D Aguirre; Van W Knox; Sydney Evans; marie T vanier; Edward H Schuchman; Steven U Walkley; Mark E Haskins
Bone marrow transplantation for feline mucopolysaccharidosis I.
Molecular genetics and metabolism 2007;91(3):239-50.
2007: Lucie Verot; Karim Chikh; E Freydière; R Honoré; marie T vanier; Gilles Millat
Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.
Clinical genetics 2007;71(4):320-30.
2007: Caroline Sevin; Lucie Verot; Abdellatif Benraiss; Debby Van Dam; Delphine Bonnin; Guy Nagels; Françoise Fouquet; Volkmar Gieselmann; marie T vanier; Peter Paul De Deyn; Patrick Aubourg; Nathalie Cartier
Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer.
Gene therapy 2007;14(5):405-14.
2007: Michitaka Suzuki; Yuko Sugimoto; Yuki Ohsaki; Makoto Ueno; Shinsuke Kato; Yukisato Kitamura; Hiroshi Hosokawa; Joanna P Davies; Yiannis A Ioannou; marie T vanier; Kousaku Ohno; Haruaki Ninomiya
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.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2007;27(8):1879-91.
2007: J Imrie; S Dasgupta; G T N Besley; C Harris; LE Heptinstall; S Knight; marie T vanier; AH Fensom; C Ward; E Jacklin; C Whitehouse; James Wraith
The natural history of Niemann-Pick disease type C in the UK.
Journal of inherited metabolic disease 2007;30(1):51-9.
2007: Mathieu Sévin; Gaëtan Lesca; Nicole Baumann; Gilles Millat; Olivier Lyon-Caen; marie T vanier; Frédéric Sedel
The adult form of Niemann-Pick disease type C.
Brain : a journal of neurology 2007;130(Pt 1):120-33.
2006: Margaret Timmons; Maria Tsokos; M Abu Asab; S B Seminara; GC Zirzow; Christine R Kaneski; John D Heiss; Marjo S van der Knaap; marie T vanier; Raphael Schiffmann; Kondi Wong
Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia.
Neurology 2006;67(11):2066-9.
2006: C Iturriaga; Manuel Pineda; E M Fernández-Valero; marie T vanier; M J Coll
Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale.
Journal of the neurological sciences 2006;249(1):1-6.
2006: Markus Ries; Ellen Schaefer; Till Lührs; Latha Mani; Jana Kuhn; marie T vanier; Frank Krummenauer; Andreas Gal; Michael Beck; Eugen Mengel
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C.
Journal of inherited metabolic disease 2006;29(5):647-52.
2006: George Trendelenburg; marie T vanier; Sofiane Maza; Gilles Millat; Georg Bohner; D L Munz; Rolf Zschenderlein
Niemann-Pick type C disease in a 68-year-old patient.
Journal of neurology, neurosurgery, and psychiatry 2006;77(8):997-8.
2006: Carine Ciron; Nathalie Desmaris; Marie-Anne Colle; Sylvie Raoul; Béatrice Joussemet; Lucie Vérot; Jérôme Ausseil; Roseline Froissart; Françoise Roux; Yan Chérel; Nicolas Ferry; Youenn Lajat; Bertrand Schwartz; marie T vanier; Irène Maire; Marc Tardieu; Philippe Moullier; Jean Michel Heard
Gene therapy of the brain in the dog model of Hurler's syndrome.
Annals of neurology 2006;60(2):204-13.
2006: Yuki Ohsaki; Yuko Sugimoto; Michitaka Suzuki; Hiroshi Hosokawa; Tamotsu Yoshimori; Joanna P Davies; Yiannis A Ioannou; marie T vanier; Kousaku Ohno; Haruaki Ninomiya
Cholesterol depletion facilitates ubiquitylation of NPC1 and its association with SKD1/Vps4.
Journal of cell science 2006;119(Pt 13):2643-53.
2006: Roseanne M Taylor; Jean-Pyo Lee; James J Palacino; Kate A Bower; Jianxue Li; marie T vanier; David A Wenger; Richard L Sidman; Evan Y Snyder
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;97(6):1585-99.
2006: Caroline Sevin; Abdellatif Benraiss; Debby Van Dam; Delphine Bonnin; Guy Nagels; Lucie Verot; Ingrid Laurendeau; Michel Vidaud; Volkmar Gieselmann; marie T vanier; Peter Paul De Deyn; Patrick Aubourg; Nathalie Cartier
Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophy.
Human molecular genetics 2006;15(1):53-64.
2005: Paola Luzi; Mohammad A Rafi; Mariam Zaka; Han Zhi Rao; Mark Curtis; marie T vanier; David A Wenger
Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation.
Molecular genetics and metabolism 2005;86(1-2):150-9.
2005: Gilles Millat; Nathalie Baïlo; Sabine Molinero; Céline Rodriguez; Karim Chikh; marie T vanier
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.
Molecular genetics and metabolism 2005;86(1-2):220-32.
2005: E M Fernandez-Valero; A Ballart; C Iturriaga; M Lluch; J Macias; marie T vanier; Manuel Pineda; M J Coll
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
Clinical genetics 2005;68(3):245-54.
2005: Gaëtan Lesca; marie T vanier; E Creisson; N Bendelac; Bernard Hainque; E Ollagnon-Roman; Patrick Aubourg
[X-linked adrenoleukodystrophy in a female proband: clinical presentation, biological diagnosis and family consequences].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2005;12(8):1237-40.
2005: Simon Ngamli Fewou; Heinrich Büssow; Nicole Schaeren-Wiemers; marie T vanier; Wendy B Macklin; Volkmar Gieselmann; Matthias Eckhardt
Reversal of non-hydroxy:alpha-hydroxy galactosylceramide ratio and unstable myelin in transgenic mice overexpressing UDP-galactose:ceramide galactosyltransferase.
Journal of neurochemistry 2005;94(2):469-81.
2005: Karim Chikh; Céline Rodriguez; Sébastien Vey; marie T vanier; Gilles Millat
Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.
Human mutation 2005;26(1):20-8.
2005: Mohammad A Rafi; Han Zhi Rao; Marco A Passini; Mark Curtis; marie T vanier; Mariam Zaka; Paola Luzi; John H Wolfe; David A Wenger
AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy.
Molecular therapy : the journal of the American Society of Gene Therapy 2005;11(5):734-44.
2005: Louise Tyvaert; Tanya Stojkovic; Jean-Marie Cuisset; marie T vanier; J-C Turpin; J de Sèze; Patrick Vermersch
[Presentation of Niemann-Pick type C disease with psychiatric disturbance in an adult].
Revue neurologique 2005;161(3):318-22.
2005: H Pavlů-Pereira; Befekadu Asfaw; H Poupctová; Jana Ledvinová; Jakub Sikora; marie T vanier; K Sandhoff; Jirí Zeman; Z Novotná; D Chudoba; Milan Elleder
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;28(2):203-27.
2004: arnaud cressant; Nathalie Desmaris; Lucie Verot; Thomas Bréjot; Roseline Froissart; marie T vanier; Irène Maire; Jean Michel Heard
Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2004;24(45):10229-39.
2004: Karim Chikh; Sébastien Vey; Cédric Simonot; marie T vanier; Gilles Millat
Niemann-Pick type C disease: importance of N-glycosylation sites for function and cellular location of the NPC2 protein.
Molecular genetics and metabolism 2004;83(3):220-30.
2004: marie T vanier; Gilles Millat
Structure and function of the NPC2 protein.
Biochimica et biophysica acta 2004;1685(1-3):14-21.
2004: Maria Gabriela Pittis; Verena Ricci; Veronica Guerci; C Marçais; Giovanni Ciana; Andrea Dardis; F Gerin; Marina Stroppiano; marie T vanier; Mirella Filocamo; Bruno Bembi
Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.
Human mutation 2004;24(2):186-7.
2004: Nathalie Desmaris; Lucie Verot; Jean Philippe Puech; Catherine Caillaud; marie T vanier; Jean Michel Heard
Prevention of neuropathology in the mouse model of Hurler syndrome.
Annals of neurology 2004;56(1):68-76.
2004: Rosa Salvioli; Susanna Scarpa; Fiorella Ciaffoni; Massimo Tatti; Carlo Ramoni; marie T vanier; Anna Maria Vaccaro
Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C.
The Journal of biological chemistry 2004;279(17):17674-80.
2004: David E Sleat; Jennifer A Wiseman; Mukarram El-Banna; Sandy M Price; Lucie Verot; Michael M Shen; Stephen G Tint; marie T vanier; Steven U Walkley; Peter Lobel
Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(16):5886-91.
2003: Koichi Suzuki; T Ezoe; J Tohyama; J Matsuda; marie T vanier; K Suzuki
Are animal models useful for understanding the pathophysiology of lysosomal storage disease?
Acta paediatrica (Oslo, Norway : 1992). Supplement 2003;92(443):54-62; discussion 45.
2003: Roseline Froissart; Nathalie Guffon; marie T vanier; Robert J Desnick; Irène Maire
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
Molecular genetics and metabolism 2003;80(3):307-14.
2003: marie T vanier; Gilles Millat
Niemann-Pick disease type C.
Clinical genetics 2003;64(4):269-81.
2003: Cyril Mignot; Antoinette Gelot; Bettina Bessières; Fernand Daffos; Marcel Voyer; Françoise Menez; Catherine Fallet-Bianco; Sylvie Odent; D Le Duff; Philippe Loget; P Fargier; J Costil; P Josset; Joelle Roume; marie T vanier; I Maire; Thierry Billette de Villemeur
Perinatal-lethal Gaucher disease.
American journal of medical genetics. Part A 2003;120A(3):338-44.
2002: marie T vanier
Prenatal diagnosis of Niemann-Pick diseases types A, B and C.
Prenatal diagnosis 2002;22(7):630-2.
2002: P Volders; J Van Hove; Rik J U Lories; Ph Vandekerckhove; G Matthijs; R De Vos; marie T vanier; M F Vincent; René Westhovens; Frank P Luyten
Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures.
American journal of medical genetics 2002;109(1):42-51.
2001: J Matsuda; marie T vanier; Y Saito; Koichi Suzuki; K Suzuki
Dramatic phenotypic improvement during pregnancy in a genetic leukodystrophy: estrogen appears to be a critical factor.
Human molecular genetics 2001;10(23):2709-15.
2001: Gilles Millat; Karim Chikh; Saule Naureckiene; David E Sleat; AH Fensom; Katsumi Higaki; M Elleder; Peter Lobel; marie T vanier
Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.
American journal of human genetics 2001;69(5):1013-21.
2001: Makoto Taniguchi; Y Shinoda; Haruaki Ninomiya; marie T vanier; Kousaku Ohno
Sites and temporal changes of gangliosides GM1/GM2 storage in the Niemann-Pick disease type C mouse brain.
Brain & development 2001;23(6):414-21.
2001: Isaura Ribeiro; Ana Marcão; Olga Amaral; M. Clara Sá-Miranda; marie T vanier; Gilles Millat
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.
Human genetics 2001;109(1):24-32.
2001: Paola Luzi; Mohammad A Rafi; Mariam Zaka; Mark Curtis; marie T vanier; David A Wenger
Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease).
Molecular genetics and metabolism 2001;73(3):211-23.
2001: Katsumi Higaki; Haruaki Ninomiya; Yuko Sugimoto; T Suzuki; Makoto Taniguchi; H Niwa; Peter G Pentchev; marie T vanier; Kousaku Ohno
Isolation of NPC1-deficient Chinese hamster ovary cell mutants by gene trap mutagenesis.
Journal of biochemistry 2001;129(6):875-80.
2001: Gilles Millat; C Marçais; C Tomasetto; Karim Chikh; AH Fensom; Klaus Harzer; David A Wenger; K Ohno; marie T vanier
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;68(6):1373-85.
2001: J Matsuda; marie T vanier; Y Saito; J Tohyama; Koichi Suzuki; K Suzuki
A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.
Human molecular genetics 2001;10(11):1191-9.
2001: Fabien Alpy; Marie-Elisabeth Stoeckel; Andrée Dierich; J M Escola; Corinne Wendling; Marie-Pierre Chenard; marie T vanier; Jean Gruenberg; Catherine Tomasetto; Marie-Christine Rio
The steroidogenic acute regulatory protein homolog MLN64, a late endosomal cholesterol-binding protein.
The Journal of biological chemistry 2001;276(6):4261-9.
2000: Saule Naureckiene; David E Sleat; Henry Lackland; AH Fensom; marie T vanier; Robert Wattiaux; Michel Jadot; Peter Lobel
Identification of HE1 as the second gene of Niemann-Pick C disease.
Science (New York, N.Y.) 2000;290(5500):2298-301.
2000: T Yamamoto; Haruaki Ninomiya; M Matsumoto; Y Ohta; Eiji Nanba; Y Tsutsumi; K Yamakawa; Gilles Millat; marie T vanier; Peter G Pentchev; K Ohno
Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts.
Journal of medical genetics 2000;37(9):707-12.
2000: H Christomanou; marie T vanier; P Santambrogio; paolo arosio; W J Kleijer; Klaus Harzer
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.
Molecular genetics and metabolism 2000;70(3):196-202.
2000: J Tohyama; marie T vanier; Koichi Suzuki; T Ezoe; J Matsuda; K Suzuki
Paradoxical influence of acid beta-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency).
Human molecular genetics 2000;9(11):1699-707.
2000: Y Liu; Yun-Ping Wu; Ryuichi Wada; Edward B Neufeld; K A Mullin; A C Howard; Peter G Pentchev; marie T vanier; Koichi Suzuki; Richard L Proia
Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse.
Human molecular genetics 2000;9(7):1087-92.
2000: T Ezoe; marie T vanier; Y Oya; Brian Popko; J Tohyama; J Matsuda; Koichi Suzuki; K Suzuki
Twitcher mice with only a single active galactosylceramide synthase gene exhibit clearly detectable but therapeutically minor phenotypic improvements.
Journal of neuroscience research 2000;59(2):179-87.
2000: T Ezoe; marie T vanier; Y Oya; Brian Popko; J Tohyama; J Matsuda; Koichi Suzuki; K Suzuki
Biochemistry and neuropathology of mice doubly deficient in synthesis and degradation of galactosylceramide.
Journal of neuroscience research 2000;59(2):170-8.
1999: Hong Hua Li; Wei-Hong Yu; Nora Rozengurt; Hui-Zhi Zhao; Karen M Lyons; Stephan Anagnostaras; Michael S Fanselow; Kunihiko Suzuki; marie T vanier; Elizabeth F Neufeld
Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(25):14505-10.
1999: Gilles Millat; C Marçais; Mohammad A Rafi; T Yamamoto; JA Morris; Peter G Pentchev; K Ohno; David A Wenger; marie T vanier
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.
American journal of human genetics 1999;65(5):1321-9.
1999: Toshiyuki Yamamoto; Eiji Nanba; Haruaki Ninomiya; Katsumi Higaki; Makoto Taniguchi; H Zhang; Shinjiro Akaboshi; Y Watanabe; Takao Takeshima; K Inui; S Okada; A Tanaka; Norio Sakuragawa; Gilles Millat; marie T vanier; JA Morris; Peter G Pentchev; Kousaku Ohno
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
Human genetics 1999;105(1-2):10-6.
1999: J Tohyama; Y Oya; T Ezoe; marie T vanier; H Nakayasu; N Fujita; Koichi Suzuki
Ceramide accumulation is associated with increased apoptotic cell death in cultured fibroblasts of sphingolipid activator protein-deficient mouse but not in fibroblasts of patients with Farber disease.
Journal of inherited metabolic disease 1999;22(5):649-62.
1999: Edward B Neufeld; Meryl E Wastney; S Patel; Subra Suresh; Adele Cooney; Nancy K Dwyer; C F Roff; K Ohno; JA Morris; ED Carstea; John P Incardona; Jerome F Strauss; marie T vanier; M C Patterson; Roscoe O Brady; Peter G Pentchev; E Joan Blanchette-Mackie
The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo.
The Journal of biological chemistry 1999;274(14):9627-35.
1999: marie T vanier
Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature.
Neurochemical research 1999;24(4):481-9.
1999: Koichi Suzuki; marie T vanier; Timotthy Coetzee; Brian Popko
Drastically abnormal gluco- and galactosylceramide composition does not affect ganglioside metabolism in the brain of mice deficient in galactosylceramide synthase.
Neurochemical research 1999;24(4):471-4.
1999: Claire Rodriguez-Lafrasse; marie T vanier
Sphingosylphosphorylcholine in Niemann-Pick disease brain: accumulation in type A but not in type B.
Neurochemical research 1999;24(2):199-205.
1999: David A Wenger; T Victoria; Mohammad A Rafi; Paola Luzi; marie T vanier; Charles H Vite; D F Patterson; M H Haskins
Globoid cell leukodystrophy in cairn and West Highland white terriers.
The Journal of heredity 1999;90(1):138-42.
1999: T Pàmpols; Mercedes Pineda; ML Girós; Isidro Ferrer; V Cusi; A Chabás; F X Sanmarti; marie T vanier; H Christomanou
Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant.
Acta neuropathologica 1999;97(1):91-7.
1998: Gary B Baskin; Marion S Ratterree; Billie B Davison; KP Falkenstein; M R Clarke; John D England; marie T vanier; Paola Luzi; Mohammad A Rafi; David A Wenger
Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, Krabbe disease) in rhesus monkeys (Macaca mulatta).
Laboratory animal science 1998;48(5):476-82.
1998: Pierre Landrieu; S Blanche; marie T vanier; S Metral; Béatrice Husson; K Sandhoff; A Fischer
Bone marrow transplantation in metachromatic leukodystrophy caused by saposin-B deficiency: a case report with a 3-year follow-up period.
The Journal of pediatrics 1998;133(1):129-32.
1998: Koichi Suzuki; marie T vanier
Induced mouse models of abnormal sphingolipid metabolism.
Journal of biochemistry 1998;124(1):8-19.
1998: William Krivit; Elsa G Shapiro; Charles Peters; John E Wagner; G Cornu; Joanne Kurtzberg; David A Wenger; Edwin H Kolodny; marie T vanier; Daniel J Loes; Kathryn E Dusenbery; Lawrence A Lockman
Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy.
The New England journal of medicine 1998;338(16):1119-26.
1998: J S Sequeira; Ashok Vellodi; marie T vanier; Peter T Clayton
Niemann-Pick disease type C and defective peroxisomal beta-oxidation of branched-chain substrates.
Journal of inherited metabolic disease 1998;21(2):149-54.
1998: Stefan Ries; Christa Büchler; G Schindler; Charalampos Aslanidis; Detlev Ameis; Christoph Gasche; N Jung; A Schambach; P Fehringer; marie T vanier; D C Belli; Heiner Greten; Gerd Schmitz
Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.
Human mutation 1998;12(1):44-51.
1998: O Schofer; B Mischo; W Püschel; Klaus Harzer; marie T vanier
Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation group.
European journal of pediatrics 1998;157(1):45-9.
1998: marie T vanier; Kinuko Suzuki
Recent advances in elucidating Niemann-Pick C disease.
Brain pathology (Zurich, Switzerland) 1998;8(1):163-74.
1997: Alexander Lossos; I Schlesinger; E Okon; Oded Abramsky; Ruth Bargal; marie T vanier; Marsha Zeigler
Adult-onset Niemann-Pick type C disease. Clinical, biochemical, and genetic study.
Archives of neurology 1997;54(12):1536-41.
1997: A J Grau; T Brandt; Matthias Weisbrod; R Niethammer; M Forsting; Michael Cantz; marie T vanier; Klaus Harzer
Adult Niemann-Pick disease type C mimicking features of multiple sclerosis.
Journal of neurology, neurosurgery, and psychiatry 1997;63(4):552.
1997: Claire Rodriguez-Lafrasse; Robert Rousson; S Valla; P Antignac; Pierre Louisot; marie T vanier
Modulation of protein kinase C by endogenous sphingosine: inhibition of phorbol dibutyrate binding in Niemann-Pick C fibroblasts.
The Biochemical journal 1997;325 ( Pt 3)():787-91.
1997: E D Carstea; J A Morris; K G Coleman; S K Loftus; D Zhang; C Cummings; J Gu; M A Rosenfeld; william pavan; D B Krizman; J Nagle; Mihael H Polymeropoulos; Stephen L. Sturley; Y A Ioannou; M E Higgins; M Comly; A Cooney; A Brown; C R Kaneski; E J Blanchette-Mackie; N K Dwyer; E B Neufeld; T Y Chang; L Liscum; Jerome F Strauss; K Ohno; M Zeigler; R Carmi; J Sokol; D Markie; R R O'Neill; O P van Diggelen; M Elleder; M C Patterson; R O Brady; marie T vanier; P G Pentchev; D A Tagle
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
Science (New York, N.Y.) 1997;277(5323):228-31.
1997: M Bataillard; P Richard; L Rumbach; marie T vanier; M Truttmann
[Isolated spastic paraparesis disclosing Krabbe disease in adult age].
Revue neurologique 1997;153(5):347-50.
1997: marie T vanier
Phenotypic and genetic heterogeneity in Niemann-Pick disease type C: current knowledge and practical implications.
Wiener klinische Wochenschrift 1997;109(3):68-73.
1997: Chris Hahn; M del Pilar Martin; M Schröder; marie T vanier; Y Hara; K Suzuki; K Suzuki; Alessandra d'Azzo
Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase.
Human molecular genetics 1997;6(2):205-11.
1996: N Fujita; Kunihiko Suzuki; marie T vanier; Brian Popko; Nobuyo Maeda; A Klein; M Henseler; Konrad Sandhoff; H Nakayasu; Kinuko Suzuki
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;5(6):711-25.
1996: M Henseler; A Klein; M Reber; marie T vanier; P Landrieu; Konrad Sandhoff
Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy.
American journal of human genetics 1996;58(1):65-74.
1996: marie T vanier; S Duthel; Claire Rodriguez-Lafrasse; Peter G Pentchev; ED Carstea
Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.
American journal of human genetics 1996;58(1):118-25.
1995: Klaus Ferlinz; R Hurwitz; M Weiler; Kunihiko Suzuki; Konrad Sandhoff; marie T vanier
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease.
American journal of human genetics 1995;56(6):1343-9.
1995: Alex J Bermudez; G C Johnson; marie T vanier; M Schröder; Kunihiko Suzuki; P L Stogsdill; Gary S Johnson; D O'Brien; Cecil P Moore; W W Fry
Gangliosidosis in emus (Dromaius novaehollandiae).
Avian diseases 1995;39(2):292-303.
1994: Claire Rodriguez-Lafrasse; R Rousson; Peter G Pentchev; Pierre Louisot; marie T vanier
Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disorders.
Biochimica et biophysica acta 1994;1226(2):138-44.
1994: Peter G Pentchev; Roscoe O Brady; E Joan Blanchette-Mackie; marie T vanier; ED Carstea; C C Parker; Ehud Goldin; C F Roff
The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol.
Biochimica et biophysica acta 1994;1225(3):235-43.
1994: Wolfgang Sperl; G Bart; marie T vanier; H Christomanou; Ivo Baldissera; E Steichen-Gersdorf; Eduard Paschke
A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate.
Journal of inherited metabolic disease 1994;17(1):93-103.
1994: P Le Coz; E Assouline; marie T vanier; F Goutières; Jacqueline Mikol; France Woimant; J M Pinard; J Aicardi; Michel Haguenau
[GM2-Gangliosidosis variant B1 disclosed during adolescence by an isolated multi-systemic involvement of the central and peripheral nervous systems].
Revue neurologique 1994;150(1):61-6.
1993: J D Butler; marie T vanier; Peter G Pentchev
Niemann-Pick C disease: cystine and lipids accumulate in the murine model of this lysosomal cholesterol lipidosis.
Biochemical and biophysical research communications 1993;196(1):154-9.
1993: marie T vanier; Klaus Ferlinz; R Rousson; S Duthel; Pierre Louisot; Konrad Sandhoff; Kinuko Suzuki
Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa.
Human genetics 1993;92(4):325-30.
1993: R Rousson; P Parvaz; J Bonnet; Claire Rodriguez-Lafrasse; Pierre Louisot; marie T vanier
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.
Journal of immunological methods 1993;160(2):199-206.
1993: ED Carstea; Mihael H Polymeropoulos; C C Parker; S D Detera-Wadleigh; R R O'Neill; M C Patterson; Ehud Goldin; H Xiao; R E Straub; marie T vanier
Linkage of Niemann-Pick disease type C to human chromosome 18.
Proceedings of the National Academy of Sciences of the United States of America 1993;90(5):2002-4.
1993: C Dumontel; C Girod; F Dijoud; Y Dumez; marie T vanier
Fetal Niemann-Pick disease type C: ultrastructural and lipid findings in liver and spleen.
Virchows Archiv. A, Pathological anatomy and histopathology 1993;422(3):253-9.
1993: S Akli; J Boue; K Sandhoff; W Kleijer; E Vamos; E Young; R Gatti; P Di Natale; J Motte; marie T vanier
Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe.
European journal of human genetics : EJHG 1993;1(3):229-38.
1992: Ehud Goldin; C F Roff; S P Miller; Claire Rodriguez-Lafrasse; marie T vanier; Roscoe O Brady; Peter G Pentchev
Type C Niemann-Pick disease: a murine model of the lysosomal cholesterol lipidosis accumulates sphingosine and sphinganine in liver.
Biochimica et biophysica acta 1992;1127(3):303-11.
1992: C F Roff; A Pastuszyn; Jerome F Strauss; J T Billheimer; marie T vanier; Roscoe O Brady; T J Scallen; Peter G Pentchev
Deficiencies in sex-regulated expression and levels of two hepatic sterol carrier proteins in a murine model of Niemann-Pick type C disease.
The Journal of biological chemistry 1992;267(22):15902-8.
1992: marie T vanier; Claire Rodriguez-Lafrasse; R Rousson; G Mandon; J Boué; A Choiset; M F Peyrat; C Dumontel; M C Juge; Peter G Pentchev
Prenatal diagnosis of Niemann-Pick type C disease: current strategy from an experience of 37 pregnancies at risk.
American journal of human genetics 1992;51(1):111-22.
1992: MA Mongalgi; N H Toumi; M Cheour; marie T vanier; Ali Debbabi
[Galactosialidosis with Kayser-Fleischer's ring].
Archives françaises de pédiatrie 1992;49(3):193-5.
1991: Philippe Labrune; P Bedossa; P Huguet; F Roset; marie T vanier; M Odievre
Fatal liver failure in two children with Niemann-Pick disease type B.
Journal of pediatric gastroenterology and nutrition 1991;13(1):104-9.
1991: marie T vanier; Claire Rodriguez-Lafrasse; R Rousson; N Gazzah; M C Juge; Peter G Pentchev; A Revol; Pierre Louisot
Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing.
Biochimica et biophysica acta 1991;1096(4):328-37.
1991: C E Argoff; M E Comly; J Blanchette-Mackie; Howard S Kruth; H T Pye; Ehud Goldin; Christine R Kaneski; marie T vanier; Roscoe O Brady; Peter G Pentchev
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.
Biochimica et biophysica acta 1991;1096(4):319-27.
1991: M Phelps; J Aicardi; marie T vanier
Late onset Krabbe's leukodystrophy: a report of four cases.
Journal of neurology, neurosurgery, and psychiatry 1991;54(4):293-6.
1991: C Denoix; Claire Rodriguez-Lafrasse; marie T vanier; Y Navelet; Pierre Landrieu
[Cataplexy revealing an atypical form of Niemann-Pick disease type C].
Archives françaises de pédiatrie 1991;48(1):31-4.
1991: Kunihiko Suzuki; marie T vanier
Biochemical and molecular aspects of late-onset GM2-gangliosidosis: B1 variant as a prototype.
Developmental neuroscience 1991;13(4-5):288-94.
1991: C F Roff; Ehud Goldin; M E Comly; Adele Cooney; A Brown; marie T vanier; S P Miller; Roscoe O Brady; Peter G Pentchev
Type C Niemann-Pick disease: use of hydrophobic amines to study defective cholesterol transport.
Developmental neuroscience 1991;13(4-5):315-9.
1991: marie T vanier; Claire Rodriguez-Lafrasse; R Rousson; S Duthel; K Harzer; Peter G Pentchev; A Revol; Pierre Louisot
Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneity.
Developmental neuroscience 1991;13(4-5):307-14.
1991: Jean-Louis Touraine; S Laplace; F Rezzoug; Kamel Sanhadji; P Veyron; C Royo; Irène Maire; M T Zabot; marie T vanier; M O Rolland
The place of fetal liver transplantation in the treatment of inborn errors of metabolism.
Journal of inherited metabolic disease 1991;14(4):619-26.
1991: marie T vanier; Peter G Pentchev; Claire Rodriguez-Lafrasse; R Rousson
Niemann-Pick disease type C: an update.
Journal of inherited metabolic disease 1991;14(4):580-95.
1990: I Pin; S Pradines; O Pincemaille; P Frappat; E Brambilla; marie T vanier; M Bost
[A fatal respiratory form of type C Niemann-Pick disease].
Archives françaises de pédiatrie 1990;47(5):373-5.
1990: Claire Rodriguez-Lafrasse; R Rousson; J Bonnet; Peter G Pentchev; Pierre Louisot; marie T vanier
Abnormal cholesterol metabolism in imipramine-treated fibroblast cultures. Similarities with Niemann-Pick type C disease.
Biochimica et biophysica acta 1990;1043(2):123-8.
1990: N Specola; marie T vanier; F Goutières; Jacqueline Mikol; J Aicardi
The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity.
Neurology 1990;40(1):145-50.
1989: E Joan Blanchette-Mackie; Nancy K Dwyer; marie T vanier; J Sokol; H F Merrick; M E Comly; C E Argoff; Peter G Pentchev
Type C Niemann-Pick disease: dimethyl sulfoxide moderates abnormal LDL-cholesterol processing in mutant fibroblasts.
Biochimica et biophysica acta 1989;1006(2):219-26.
1989: marie T vanier; R M Rousson; G Mandon; A Choiset; B D Lake; Peter G Pentchev
Diagnosis of Niemann-Pick disease type C on chorionic villus cells.
Lancet 1989;1(8645):1014-5.
1988: E Joan Blanchette-Mackie; Nancy K Dwyer; L M Amende; Howard S Kruth; J D Butler; J Sokol; M E Comly; marie T vanier; Thomas August; Roscoe O Brady
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.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(21):8022-6.
1988: marie T vanier; D A Wenger; M E Comly; R Rousson; Roscoe O Brady; Peter G Pentchev
Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients.
Clinical genetics 1988;33(5):331-48.
1988: M Elleder; J Cihula; marie T vanier
[Sphingomyelinase deficiency (Niemann-Pick) type A. A new variant with an unusually prolonged course].
Sborník lékar̆ský 1988;90(1):21-5.
1988: marie T vanier; R Rousson
[Sphingolipidosis. Recent progress in biochemical diagnosis. New pathogenic approaches].
Annales de biologie clinique 1988;46(7):461-8.
1987: R Rousson; J Bonnet; Pierre Louisot; marie T vanier
Presence of immunoreactive material in Niemann-Pick type A placenta using anti-sphingomyelinase rabbit gammaglobulins.
Biochimica et biophysica acta 1987;924(3):502-8.
1987: E Vignon; O Gateau; A Martin; D Hartmann; J Bejui; M C Biol; marie T vanier; P Louisot; M Richard
Screening of degradative enzymes from articular cartilage in experimental osteoarthritis.
Clinical rheumatology 1987;6(2):208-14.
1987: J D Butler; M E Comly; Howard S Kruth; marie T vanier; M Filling-Katz; John K Fink; N Barton; H Weintroub; J M Quirk; T Tokoro
Niemann-pick variant disorders: comparison of errors of cellular cholesterol homeostasis in group D and group C fibroblasts.
Proceedings of the National Academy of Sciences of the United States of America 1987;84(2):556-60.
1986: Peter G Pentchev; Howard S Kruth; M E Comly; J D Butler; marie T vanier; D A Wenger; S Patel
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.
The Journal of biological chemistry 1986;261(35):16775-80.
1986: Howard S Kruth; M E Comly; J D Butler; marie T vanier; John K Fink; D A Wenger; S Patel; Peter G Pentchev
Type C Niemann-Pick disease. Abnormal metabolism of low density lipoprotein in homozygous and heterozygous fibroblasts.
The Journal of biological chemistry 1986;261(35):16769-74.
1986: M Elleder; J Nevoral; V Spicáková; H Hyniová; J Kraus; J Krásný; marie T vanier
A new variant of sphingomyelinase deficiency (Niemann-Pick): visceromegaly, minimal neurological lesions and low in vivo degradation rate of sphingomyelin.
Journal of inherited metabolic disease 1986;9(4):357-66.
1985: Peter G Pentchev; M E Comly; Howard S Kruth; marie T vanier; D A Wenger; S Patel; Roscoe O Brady
A defect in cholesterol esterification in Niemann-Pick disease (type C) patients.
Proceedings of the National Academy of Sciences of the United States of America 1985;82(23):8247-51.
1985: marie T vanier; J Boue; Y Dumez
Niemann-Pick disease type B: first-trimester prenatal diagnosis on chorionic villi and biochemical study of a foetus at 12 weeks of development.
Clinical genetics 1985;28(4):348-54.
1985: marie T vanier; R Rousson; I Garcia; G Bailloud; M C Juge; A Revol; Pierre Louisot
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.
Clinical genetics 1985;27(1):20-32.
1984: J J Martin; A Lowenthal; C Ceuterick; marie T vanier
Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C).
Journal of the neurological sciences 1984;66(1):33-45.
1983: marie T vanier; R Rousson; Pierre Louisot
Chromatofocusing of skin fibroblast sphingomyelinase: alterations in Niemann-Pick disease type C shared by GM1-gangliosidosis.
Clinica chimica acta; international journal of clinical chemistry 1983;130(2):155-61.
1983: S Albouz; marie T vanier; JEAN-JACQUES HAUW; Françoise Le Saux; J M Boutry; Nicole Baumann
Effect of tricyclic antidepressants on sphingomyelinase and other sphingolipid hydrolases in C6 cultured glioma cells.
Neuroscience letters 1983;36(3):311-5.
1983: R Rousson; marie T vanier; Pierre Louisot
Chromatofocusing of purified placental sphingomyelinase.
Biochimie 1983;65(2):115-20.
1983: marie T vanier
Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen.
Biochimica et biophysica acta 1983;750(1):178-84.
1981: J M Matthieu; M Markert; marie T vanier; M Rutti; J Reigner; J M Bourre
Lipid metabolism and oxygen consumption in a hereditary demyelinating neuropathy, the trembler mouse: an in vitro study.
Brain research 1981;226(1-2):235-44.
1981: marie T vanier; L Svennerholm; J E Månsson; G Håkansson; A Boué; J Lindsten
Prenatal diagnosis of Krabbe disease.
Clinical genetics 1981;20(2):79-89.
1981: L Svennerholm; marie T vanier; G Häkansson; J E Mänsson
Use of leukocytes in diagnosis of Krabbe disease and detection of carriers.
Clinica chimica acta; international journal of clinical chemistry 1981;112(3):333-42.
1980: marie T vanier; A Revol; M Fichet
Sphingomyelinase activities of various human tissues in control subjects and in Niemann-Pick disease - development and evaluation of a microprocedure.
Clinica chimica acta; international journal of clinical chemistry 1980;106(3):257-67.
1980: marie T vanier; J E Månsson; L Svennerholm
The occurrence of III3-alpha-fucosyllactoneotetraosylceramide in human brain.
FEBS letters 1980;112(1):70-2.
1980: L Svennerholm; marie T vanier; J E Månsson
Krabbe disease: a galactosylsphingosine (psychosine) lipidosis.
Journal of lipid research 1980;21(1):53-64.
1979: P Guibaud; marie T vanier; G Malpuech; J Gaulme; L Houllemare; R Goddon; R Rousson
[Early infantile, cholestatic, rapidly-fatal form of type C sphingomyelinosis. 2 cases].
Pédiatrie 1979;34(2):103-14.