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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.
Biochemical Journal, 2006, 395 (2), pp.259-66. ⟨10.1042/BJ20051282⟩
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.
Nucleic Acid Therapeutics, In press, ⟨10.1089/nat.2021.0043⟩
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 of Neurology, 2020, 267 (7), pp.2022-2028. ⟨10.1007/s00415-020-09800-9⟩
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.
Human Mutation, 2010, 31 (7), pp.E1544-50. ⟨10.1002/humu.21278⟩
Journal articles inserm-00588144v1

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.
Neuromuscular Disorders, 2020, 30 (12), pp.959-969. ⟨10.1016/j.nmd.2020.10.008⟩
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.
JCI Insight, 2019, 4 (6), ⟨10.1172/jci.insight.124403⟩
Journal articles hal-03285227v1