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Making sense of missense variants in TTN-related congenital myopathies

Martin Rees , Roksana Nikoopour , Atsushi Fukuzawa , Ay Lin Kho , Miguel A Fernandez-Garcia et al.
Acta Neuropathologica, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩
Journal articles hal-03156853v2
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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

240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25-27 January 2019, Hoofddorp, The Netherlands

Jennifer Morgan , Gillian Butler-Browne , Francesco Muntoni , Ketan Patel , Helge Amthor et al.
Neuromuscular Disorders, 2019, 29 (9), pp.704-715. ⟨10.1016/j.nmd.2019.07.003⟩
Journal articles hal-03201551v1

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.

Heinz Jungbluth , Haiyan Zhou , Caroline A Sewry , Stephanie Robb , Susan Treves et al.
Neuromuscular Disorders, 2007, 17 (4), pp.338-45. ⟨10.1016/j.nmd.2007.01.016⟩
Journal articles istex hal-00189980v1

Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

Ching Wang , Carsten G Bonnemann , Anne Rutkowski , Thomas Sejersen , Jonathan Bellini et al.
Journal of Child Neurology, 2010, 25 (12), pp.1559 - 1581. ⟨10.1177/0883073810381924⟩
Journal articles hal-01681828v1

Diagnostic approach to the congenital muscular dystrophies

Carsten Bönnemann , Ching H Wang , Susana Quijano-Roy , Nicolas Deconinck , Enrico Bertini et al.
Neuromuscular Disorders, 2014, 24 (4), pp.289 - 311. ⟨10.1016/j.nmd.2013.12.011⟩
Journal articles hal-01681798v1

Genotype-phenotype correlations in recessive titinopathies

Marco Savarese , Anna Vihola , Emily C. Oates , Rita Barresi , Chiara Fiorillo et al.
Genetics in Medicine, 2020, 22 (12), pp.2029-2040. ⟨10.1038/s41436-020-0914-2⟩
Journal articles hal-03300419v1
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Rimeporide as a first-in-class NHE-1 inhibitor: Results of a phase Ib trial in young patients with Duchenne Muscular Dystrophy

Stefano C Previtali , Teresa Gidaro , Jordi Díaz-Manera , Alberto Zambon , Stephanie Carnesecchi et al.
Pharmacological Research, 2020, 159, pp.104999. ⟨10.1016/j.phrs.2020.104999⟩
Journal articles hal-02944455v1
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249th ENMC International Workshop: The role of brain dystrophin in muscular dystrophy: Implications for clinical care and translational research, Hoofddorp, The Netherlands, November 29th–December 1st 2019

Jos G.M. Hendriksen , Mathula Thangarajh , Hermien E Kan , Francesco Muntoni , Dr y Aoki et al.
Neuromuscular Disorders, 2020, 30 (9), pp.782-794. ⟨10.1016/j.nmd.2020.08.357⟩
Journal articles hal-03009729v1

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches

Virginie Mariot , Romain Joubert , Christophe Hourdé , Léonard Feasson , Michael Hanna et al.
Nature Communications, 2017, 8 (1), ⟨10.1038/s41467-017-01486-4⟩
Journal articles hal-02167071v1
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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

216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15–17, 2016 Naarden, The Netherlands

Isabelle Richard , Jean-Pierre Laurent , Sebahattin Cirak , John Vissing , Susan Brown et al.
Neuromuscular Disorders, 2016, 26 (10), pp.717-724. ⟨10.1016/j.nmd.2016.08.012⟩
Journal articles hal-02333077v1
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High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients

Silvia Torelli , Domenic Scaglioni , Valentina Sardone , Matthew J Ellis , Joana Domingos et al.
Journal of Neuropathology and Experimental Neurology, 2021, 80 (10), pp.955 - 965. ⟨10.1093/jnen/nlab088⟩
Journal articles hal-03454233v1

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

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Vanessa Schartner , Norma Romero , Sandra Donkervoort , Susan Treves , Pinki Munot et al.
Acta Neuropathologica, 2017, 133 (4), pp.517-533. ⟨10.1007/s00401-016-1656-8⟩
Journal articles hal-03676425v1