author-photo

Marie T. Vanier

French Institute of Health and Medical Research
University of Lyon

209

Papers

14774

Citations

Citation Trend

Filter By

Papers (209) Sort By

Journal Conference Others

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
Show All
- Source
- Cite
- Save
Citations (1)
Prevalence of Cancer in Acid Sphingomyelinase Deficiency.

2021 Journal of Clinical Medicine
Show All
- Source
- Cite
- Save
Citations (0)
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
Show All
- Source
- Cite
- Save
Citations (23)
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.

2020 Orphanet Journal of Rare Diseases
Show All
- Source
- Cite
- Save
Citations (1)
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: Eleven years of observation

2020 Molecular Genetics and Metabolism
Show All
- Source
- Cite
- Save
Citations (0)
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
Show All
- Source
- Cite
- Save
Citations (15)
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

2018 Orphanet Journal of Rare Diseases
Show All
- Source
- Cite
- Save
Citations (21)
Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice

2018 Human Molecular Genetics
Show All
- Source
- Cite
- Save
Citations (6)
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type

2018 Molecular Genetics and Metabolism
Show All
- Source
- Cite
- Save
Citations (0)
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: A national French retrospective study

2018 Molecular Genetics and Metabolism
Show All
- Source
- Cite
- Save
Citations (0)