Publication Highlights

23 Oct 2024

ABCD3: the first oculopharyngodistal myopathy-related gene in European ancestry

16 Jan 2024

Anti-cN1A antibodies: epiphenomenon or pathogenic?

15 Nov 2023

Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, p

15 Nov 2023

Mass spectrometry-based identification of new anti-Ly and known antisynthetase autoantibodies

20 Jun 2023

Expanding the phenotype: Individuals with variants in the oxidoreductase PYROXD1 present with a myopathy and connective tissue disorder.

09 Mar 2023

Efficient skeletal muscle regeneration is dependent on adipose stromal cells originating from subcutaneous adipose tissue

23 Jan 2023

Trial of Intravenous Immune Globulin in Dermatomyositis

06 Dec 2022

Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy

25 Nov 2022

Depletion of skeletal muscle satellite cells attenuates pathology in muscular dystroph

22 Sep 2022

A novel strategy for the identification of pathogenic intronic/complex genomic variants

25 Aug 2022

Identification of Caveolae-Associated Protein 4 Autoantibodies as a Biomarker of Immune-Mediated Rippling Muscle Disease in Adults

31 Jul 2022

Dystrophin expression comparison in CXMD dog model

21 Jun 2022

Type I interferon in dermatomyositis: Impact on myogenesis and possible autocrine/paracrine effect

19 May 2022

Development of DG9 peptide-conjugated single- and multi-exon skipping therapies for the treatment of Duchenne muscular dystrophy

21 Apr 2022

Low immunogenicity of LNP allows repeated administrations of CRISPR-Cas9 mRNA into skeletal muscle in mice

14 Mar 2022

Assessing dysferlinopathy patients over three years with a new motor scale

10 Jan 2022

Exploring new therapeutic approaches in FSHD by small molecules modulation of endogenous microRNA

06 Dec 2021

An alternative to corticosteroid for the treatment of Duchenne Muscular Dystrophy

01 Nov 2021

Demonbreun et al identify a novel antibody mediated therapeutic strategy for Duchenne muscular dystrophy based on previous genetic modifier studies.

01 Oct 2021

Severe COVID-19 is associated with post-infectious inflammatory myopathy

02 Sep 2021

Establishing the validity of motor outcome measures in young boys with Duchenne Muscular Dystrophy is critical for the success of future trials

02 Aug 2021

Exploring myonuclear heterogeneity and compartmentalization of muscle fiber...

01 Jul 2021

Distinctive features of LRP12-oculopharyngeal muscular dystrophy

04 Jun 2021

Evidence of functionality of induced dystrophin following therapeutic intervention in Duchenne patient

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