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Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes.
Sylvie Ducreux
,
Francesco Zorzato
,
Ana Ferreiro
,
Heinz Jungbluth
,
Francesco Muntoni
,
et al.
Journal articles
inserm-00383898v1
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Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial
Laurent Servais
,
Eugenio Mercuri
,
Volker Straub
,
Michela Guglieri
,
Andreea M Seferian
,
et al.
Journal articles
hal-03462481v1
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Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy
Jean-Yves Hogrel
,
Valérie Decostre
,
Isabelle Ledoux
,
Marie de Antonio
,
Erik H Niks
,
et al.
Journal articles
hal-02986642v1
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Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.
Nigel F. Clarke
,
Leigh B. Waddell
,
Sandra T. Cooper
,
Margaret Perry
,
Robert L. L. Smith
,
et al.
Journal articles
inserm-00588144v1
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Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial
Francesco Muntoni
,
Enrico Bertini
,
Giacomo Comi
,
Janbernd Kirschner
,
Anna Lusakowska
,
et al.
Journal articles
hal-03638995v1
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A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies
Véronique Bolduc
,
A. Reghan Reghan Foley
,
Herimela Solomon-Degefa
,
Apurva Sarathy
,
Sandra Donkervoort
,
et al.
Journal articles
hal-03285227v1
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