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Medicine

D-Index
91
Citations
26509
World Ranking
11874
National Ranking
368

Overview

Marie T. Vanier is affiliated with Grenoble Alpes University in France and has contributed extensively to medical research, particularly in lysosomal storage disorders and related fields. Their research output spans multiple topics primarily centered on Niemann-Pick disease and other rare metabolic conditions.

Their most frequent publication venues include:

  • Orphanet Journal of Rare Diseases
  • Molecular Genetics and Metabolism
  • Research Square (Research Square)
  • Journal of Inherited Metabolic Disease
  • Journal of Clinical Medicine

Vanier's main fields of study encompass Medicine and Biochemistry, Genetics and Molecular Biology, with a notable focus on subfields such as Physiology, Hematology, Organic Chemistry, Cell Biology, and Molecular Biology. Their research topics include:

  • Lysosomal Storage Disorders Research
  • Autoimmune and Inflammatory Disorders Research
  • Carbohydrate Chemistry and Synthesis
  • Cellular transport and secretion
  • Sphingolipid Metabolism and Signaling
  • Family and Disability Support Research
  • Child Nutrition and Feeding Issues

Some of their recent publications illustrate the focus and scope of their work:

  • Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry (2020, Orphanet Journal of Rare Diseases)
  • Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B) (2023, Orphanet Journal of Rare Diseases)
  • Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study (2020, Journal of Inherited Metabolic Disease)
  • Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation (2021, Orphanet Journal of Rare Diseases)
  • Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR) (2022, Orphanet Journal of Rare Diseases)

Frequent collaborators in their research include Bénédicte Héron, Thierry Levade, Magali Pettazzoni, Roseline Froissart, and Helena Jahnová.

Best Publications

  • Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.

    Eugene D. Carstea;Jill A. Morris;Katherine G. Coleman;Stacie K. Loftus

  • Niemann-Pick disease type C

    Marie T Vanier

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

    Saule Naureckiene;David. E. Sleat;David. E. Sleat;Henry Lackland;Anthony Fensom

  • Niemann-Pick disease type C.

    MT Vanier;G Millat

  • Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.

    Marc C. Patterson;Christian J. Hendriksz;Mark Walterfang;Frederic Sedel

  • A defect in cholesterol esterification in Niemann-Pick disease (type C) patients

    Peter G. Pentchev;Marcella E. Comly;Howard S. Kruth;Marie T. Vanier

  • Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression

    Cristin D. Davidson;Nafeeza F. Ali;Matthew C. Micsenyi;Gloria Stephney

  • The adult form of Niemann-Pick disease type C.

    Mathieu Sévin;Gaëtan Lesca;Nicole Baumann;Gilles Millat

  • Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport

    David E. Sleat;Jennifer A. Wiseman;Mukarram El-Banna;Sandy M. Price

  • Krabbe disease : a galactosylsphingosine (psychosine) lipidosis

    L Svennerholm;M T Vanier;J E Månsson

  • Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy

    William Krivit;Elsa G. Shapiro;Charles Peters;John E. Wagner

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

    M T Vanier;S Duthel;C Rodriguez-Lafrasse;P Pentchev

  • Complex lipid trafficking in Niemann-Pick disease type C.

    Marie T. Vanier

  • Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing

    Marie T. Vanier;Claire Rodriguez-Lafrasse;Robert Rousson;Noureddine Gazzah

  • Recommendations on the diagnosis and management of Niemann-Pick disease type C

    James E. Wraith;Matthias R. Baumgartner;Bruno Bembi;Athanasios Covanis

  • Secondary lipid accumulation in lysosomal disease

    Steven U. Walkley;Marie T. Vanier

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

    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

    Gilles Millat;Christophe Marçais;Catherine Tomasetto;Karim Chikh

  • Consensus clinical management guidelines for Niemann-Pick disease type C.

    Tarekegn Geberhiwot;Alessandro Moro;Andrea Dardis;Uma Ramaswami

  • Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients.

    Marie T. Vanier;David A. Wenger;Marcella E. Comly;Robert Rousson

Frequent Co-Authors

Peter G. Pentchev
Peter G. Pentchev National Institutes of Health
Kunihiko Suzuki
Kunihiko Suzuki University of North Carolina at Chapel Hill
David A. Wenger
David A. Wenger Thomas Jefferson University
Kinuko Suzuki
Kinuko Suzuki University of North Carolina at Chapel Hill
Steven U. Walkley
Steven U. Walkley Albert Einstein College of Medicine
Frits A. Wijburg
Frits A. Wijburg University of Amsterdam
Lars Svennerholm
Lars Svennerholm University of Gothenburg
Thierry Levade
Thierry Levade Paul Sabatier University
Roscoe O. Brady
Roscoe O. Brady Beth Israel Deaconess Medical Center
Patrick Aubourg
Patrick Aubourg University of Paris-Saclay

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