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FRADIN , Mélanie

Last name: FRADIN

First name: Mélanie

2019 (v1)

Journal article

Metadata-only

Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy

Nguyen, Karine Broucqsault, Natacha Chaix, Charlene

BACKGROUND: Subtelomeres are variable regions between telomeres and chromosomal-specific regions. One of the most studied pathologies linked to subtelomeric imbalance is facioscapulohumeral dystrophy (FSHD). In most cases, this disease involves shortening of an array of D4Z4 macrosatellite elements at the 4q35 locus. The disease also segregates...

Uploaded on: December 4, 2022
December 2021 (v1)

Journal article

Metadata-only

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

Biancalana, Valérie Rendu, John Chaussenot, Annabelle

Abstract The ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca 2+ channel in skeletal muscle and acts as a connecting link between electrical stimulation and Ca 2+ -dependent muscle contraction. Abnormal RyR1 activity compromises normal muscle function and results in various human disorders including malignant hyperthermia, central...

Uploaded on: December 3, 2022