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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.
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.
Journal articles
hal-03462481v1
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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.
Journal articles
hal-03201551v1
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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.
Journal articles
istex
hal-00189980v1
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Consensus Statement on Standard of Care for Congenital Muscular Dystrophies
Ching Wang
,
Carsten G Bonnemann
,
Anne Rutkowski
,
Thomas Sejersen
,
Jonathan Bellini
et al.
Journal articles
hal-01681828v1
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Diagnostic approach to the congenital muscular dystrophies
Carsten Bönnemann
,
Ching H Wang
,
Susana Quijano-Roy
,
Nicolas Deconinck
,
Enrico Bertini
et al.
Journal articles
hal-01681798v1
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Genotype-phenotype correlations in recessive titinopathies
Marco Savarese
,
Anna Vihola
,
Emily C. Oates
,
Rita Barresi
,
Chiara Fiorillo
et al.
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.
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.
Journal articles
hal-03009729v1
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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.
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 articles
hal-02986642v1
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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.
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 articles
hal-03454233v1
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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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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Vanessa Schartner
,
Norma Romero
,
Sandra Donkervoort
,
Susan Treves
,
Pinki Munot
et al.
Journal articles
hal-03676425v1
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