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1 . Academic Journal
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study
저자
by
Cécile Freihuber
;
Bahia Dahmani-Rabehi
;
Anaïs Brassier
;
Pierre Broué
;
Claude Cances
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Open Access (BioMed Central)
Open Access (DOAJ)
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Scopus
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7 . Academic Journal
The Hexokinase 1 5′-UTR Mutation in Charcot–Marie–Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering
저자
by
Maria Ceprian
;
Raul Juntas-Morales
;
Graham Campbell
;
Ulrike Walther-Louvier
;
François Rivier
, et al.
소스
International Journal of Molecular Sciences, Vol 25, Iss 8, p 4364 (2024)
Open Access (DOAJ)
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7 . Academic Journal
A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing
저자
by
Thibaut Benquey
;
Emmanuelle Pion
;
Mireille Cossée
;
Martin Krahn
;
Tanya Stojkovic
, et al.
소스
Genes, Vol 13, Iss 2, p 318 (2022)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect
저자
by
Yann Nadjar
;
Ana Lucia Hütter-Moncada
;
Philippe Latour
;
Xavier Ayrignac
;
Elsa Kaphan
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)
Open Access (BioMed Central)
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Web of Science
Scopus
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7 . Academic Journal
Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death
저자
by
Arnaud Jacquier
;
Cécile Delorme
;
Edwige Belotti
;
Raoul Juntas-Morales
;
Guilhem Solé
, et al.
소스
Acta Neuropathologica Communications, Vol 5, Iss 1, Pp 1-15 (2017)
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7 . Academic Journal
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.
저자
by
Magali Pettazzoni
;
Roseline Froissart
;
Cécile Pagan
;
Marie T Vanier
;
Séverine Ruet
, et al.
소스
PLoS ONE, Vol 12, Iss 7, p e0181700 (2017)
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7 . Academic Journal
Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.
저자
by
Michael Zech
;
Georg Nübling
;
Florian Castrop
;
Angela Jochim
;
Eva C Schulte
, et al.
소스
PLoS ONE, Vol 8, Iss 12, p e82879 (2013)
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Web of Science
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7 . Academic Journal
Induction of multi-functional T cells in a phase I clinical trial of dendritic cell immunotherapy in hepatitis C virus infected individuals.
저자
by
Shuo Li
;
Stuart Roberts
;
Magdalena Plebanski
;
Maelenn Gouillou
;
Tim Spelman
, et al.
소스
PLoS ONE, Vol 7, Iss 8, p e39368 (2012)
Open Access (DOAJ)
Web of Science
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7 .
SORD
‐related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages
저자
by
Nicolas Pons
;
Gorka Fernández‐Eulate
;
Antoine Pegat
;
Marie Théaudin
;
Régis Guieu
, et al.
소스
European Journal of Neurology
.
Open Access (OpenAIRE)
Scopus
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7 .
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy
저자
by
Arnaud Jacquier
;
Julian Theuriet
;
Fanny Fontaine
;
Valentine Mosbach
;
Nicolas Lacoste
, et al.
소스
Brain
.
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