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1 . 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
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy
저자
by
Sylvie Gerber
;
Lola Lessard
;
Cécile Rouzier
;
Samira Ait‐el‐Mkadem Saadi
;
Roxana Ameli
, et al.
소스
EMBO Molecular Medicine, Vol 15, Iss 8, Pp n/a-n/a (2023)
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7 . Academic Journal
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases
저자
by
Lucie Isoline Pisella
;
Sara Fernandes
;
Guilhem Solé
;
Tanya Stojkovic
;
Céline Tard
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
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7 . Academic Journal
Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy—Case Report
저자
by
Antoine Pegat
;
Nathalie Streichenberger
;
Nicolas Lacoste
;
Marc Hermier
;
Rita Menassa
, et al.
소스
Genes, Vol 13, Iss 12, p 2245 (2022)
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7 . Academic Journal
Efficacy and Safety of Octagam® in Patients With Chronic Inflammatory Demyelinating Polyneuropathy
저자
by
Chafké Belmokhtar
;
Pierre Lozeron
;
David Adams
;
Jérôme Franques
;
Arnaud Lacour
, et al.
소스
Neurology and Therapy, Vol 8, Iss 1, Pp 69-78 (2019)
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7 . Academic Journal
Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study
저자
by
Emilien Bernard
;
Antoine Pegat
;
Juliette Svahn
;
Françoise Bouhour
;
Pascal Leblanc
, et al.
소스
International Journal of Molecular Sciences, Vol 21, Iss 18, p 6807 (2020)
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7 . Academic Journal
Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention
저자
by
Emmanuelle Salort-Campana
;
Farzad Fatehi
;
Sadia Beloribi-Djefaflia
;
Stéphane Roche
;
Karine Nguyen
, et al.
소스
International Journal of Molecular Sciences, Vol 21, Iss 6, p 2221 (2020)
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7 . Academic Journal
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.
저자
by
Celine Dogan
;
Marie De Antonio
;
Dalil Hamroun
;
Hugo Varet
;
Marianne Fabbro
, et al.
소스
PLoS ONE, Vol 11, Iss 2, p e0148264 (2016)
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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)
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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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