M. T. Vanier

Inserm — France

Medicine · Health Sciences

30h-index3.3kcitations72works0.02yr avg
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Research Topics

Lysosomal Storage Disorders Research(46), Autoimmune and Inflammatory Disorders Research(11), Cellular transport and secretion(9), Carbohydrate Chemistry and Synthesis(9), Traumatic Brain Injury Research(7)

Publications71 total

Déficit en sphingomyélinase acide (maladie de Niemann-Pick B) : une étude rétrospective multicentrique de 28 patients adultes
La Revue de Médecine Interne·2016· 33 cited
Niemann–Pick type C disease: a novel <i><scp>NPC1</scp></i> mutation segregating in a Greek island
Clinical Genetics·2013· 9 cited
1035 The International Registry for Niemann-Pick Disease Type C (NP-C) in Clinical Practice
Archives of Disease in Childhood·2012· 1 citedOpen Access
The PHENIX Final Tests
Revue Générale Nucléaire·2010· 11 cited
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· 106 cited
LSDs and the immune system
International Journal of Clinical Pharmacology and Therapeutics·2009
P281 Designing a disease registry for Niemann Pick disease type C
European Journal of Paediatric Neurology·2009
Expression and localisation of insulin receptor substrate 2 in normal intestine and colorectal tumours. Regulation by intestine-specific transcription factor CDX2
Gut·2009· 29 cited
Non‐neuronopathic Gaucher disease due to saposin C deficiency
Clinical Genetics·2007· 100 cited
Retour d’expérience sur le pilotage des Réacteurs à Neutrons Rapides
Revue Générale Nucléaire·2007
The natural history of Niemann–Pick disease type C in the UK
Journal of Inherited Metabolic Disease·2006· 130 cited
Niemann–Pick C disease in Spain: Clinical spectrum and development of a disability scale
Journal of the Neurological Sciences·2006· 148 cited
Flexible adaptation to changing task demands in severe closed head injury patients: a driving simulator study.
PubMed·2006· 10 cited
Adrénoleucodystrophie liée à l'X chez une proposante symptomatique : présentation clinique, diagnostic biologique et conséquences familiales
Archives de Pédiatrie·2005· 4 cited
Forme respiratoire néonatale létale de la maladie de Niemann-Pick C2 et diagnostic anténatal par l'étude des mutations du gène HE1/NPC2
Archives de Pédiatrie·2005· 13 cited
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· 110 cited
Troubles psychiatriques révélateurs d’une maladie de Niemann-Pick de type C à l’âge adulte
Revue Neurologique·2005· 11 cited
Échelle neurocomportementale révisée : étude de la validité concourante
Annales de Réadaptation et de Médecine Physique·2004· 20 cited
Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of<i>in vivo</i>functional in-frame start codon
Human Mutation·2004· 58 cited
56 Forme pulmonaire néonatale de la maladie de niemann-pick type C
Journal de gynécologie, obstétrique et biologie de la reproduction. Supplément/Journal de gynécologie obstétrique et biologie de la reproduction·2004
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Frequent Co-authors

Peter G. Pentchev(6), Lars Svennerholm(4), Marcella Comly(4), Howard S. Kruth(4), J D Butler(4), Pierre Louisot(3), J.‐E. Månsson(2), Claire Rodriguez‐Lafrasse(2), Eugene D. Carstea(2), T. Tokoro(2), Michele R. Filling‐Katz(2), Jane M. Quirk(2), Shaun R. Patel(2), Kotaro Suzuki(2), John K. Fink(2), David A. Wenger(2), M. Pineda(2), P. G. Pentchev(2), Konrad Sandhoff(2), Anna Tylki‐Szymańska(2)