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PELLIEUX , Sybille

Last name: PELLIEUX

First name: Sybille

2016 (v1)

Journal article

Metadata-only

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

Dogan, Celine de Antonio, Marie Hamroun, Dalil

BACKGROUND: Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, and severity, challenging both medical management and clinical trials. The CTG expansion size is the main factor determining the age of onset although no factor can finely predict phenotype and...

Uploaded on: December 4, 2022
March 2, 2022 (v1)

Journal article

Metadata-only

Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

Sanson, Benoît Stalens, Caroline Guien, Céline

Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent muscular dystrophies and currently has no treatment. Clinical and genetic heterogeneity are the main challenges to a full comprehension of the physiopathological mechanism. Improving our knowledge of FSHD is crucial to the development of future therapeutic trials and...

Uploaded on: December 3, 2022