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SOLÉ , Guilhem

Last name: SOLÉ

First name: Guilhem

2015 (v1)

Journal article

Metadata-only

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

Salort Campana, Emmanuelle Nguyen, Karine Bernard, Rafaelle

Background: Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35. Penetrance in the range of the largest alleles is poorly known. Our objective was to study the penetrance of FSHD1 in patients carrying alleles ranging...

Uploaded on: February 28, 2023
2024 (v1)

Journal article

Metadata-only

Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry

Retailleau, Emilie Lefeuvre, Claire de Antonio, Marie

© 2024 The Author(s). European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.Background and purpose: Late onset Pompe disease (LOPD) is a rare neuromuscular disorder caused by a deficit in acid alpha-glucosidase. Macroglossia and swallowing disorders have already been reported, but no study...

Uploaded on: September 5, 2024