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1655 news items
Research
A therapeutic advance in myopathies related to the RYR1 gene
On 28/03/2025
Swiss researchers have undertaken preclinical work to pharmacologically treat one of the forms of myopathy linked to the ryanodine receptor type 1 (RYR1) : the…
Events
M&M’s – Muscle Monday Seminar – 31 March – Nicolas Charlet (France)
On 27/03/2025
The dark side of the human genome: Translation of microsatellite mutations located in non-coding sequences in novel and toxic proteins in neurological diseases Monday 31…
Research
Checkpoint inhibitors can induce myositis, but more rarely myasthenia gravis
On 27/03/2025
A French study involving several researchers and clinicians from the Institute of Myology has retrospectively demonstrated the toxic effects of checkpoint inhibitors (ICIs), innovative products…
Research
Tracking and preventing possible myocardial complications: a major challenge for DMD gene therapy
On 27/03/2025
As treatment with delandistrogene moxeparvovec begins to be widely prescribed in the United States for Duchenne muscular dystrophy (DMD), American experts have come together to…
Research
FSHD combined with genuine myositis: an intriguing association
On 26/03/2025
A French study involving clinicians from the Institute of Myology reports several new and disturbing cases of patients with two co-existing neuromuscular pathologies: firstly, facioscapulohumeral…
Research
An alternative method for injecting nusinersen intrathecally
On 26/03/2025
Spanish clinicians report their experience with an unconventional injection route in the treatment of SMN1-related proximal spinal muscular atrophy (SMA) with nusinersen : six patients…
Research
International recommendations for the child-adult transition in DMD
On 25/03/2025
A group of international experts has drawn up international recommendations concerning the transition of patients with Duchenne muscular dystrophy (DMD) from paediatric to adult age:…
Research
Positive phase I/II results for brogidirsen in Duchenne muscular dystrophy
On 24/03/2025
Brogidirsen is a dual-targeting phosphorodiamidate morpholino oligomer (PMO) antisense oligonucleotide composed of two sequences targeting exon 44 of the DMD gene in Duchenne muscular dystrophy.…
Research
DMD: an effective gene therapy in a severe mouse model of the disease leads to cardiac inflammation
On 24/03/2025
Duchenne muscular dystrophy, a severe and progressive hereditary muscular dystrophy, is caused by mutations in the DMD gene leading to the loss of a protein…
Research
Impaired social cognition in DMD
On 20/03/2025
An Italian team carried out a neuropsychological evaluation of 20 patients with Duchenne muscular dystrophy (aged between 7 and 17), and in particular their social…
Research
A case report of 20 congenital titinopathies due to an exon variant of the single metatranscript
On 19/03/2025
The TTN gene, which comprises 363 exons, is subject to numerous alternative splicing events. The exons excluded or partially included in the main isoforms of…
Research
Hearing difficulties found in CMT 1 disease
On 17/03/2025
While clinical studies suggest that patients with Charcot-Marie-Tooth (CMT) disease may suffer from ‘hidden’ deafness, a recent Dutch study used self-questionnaires to assess the hearing…
Research
Atypical cases of FSHD type 1 sometimes conceal another condition
On 13/03/2025
Researchers in Nice, in collaboration with several European teams, have compiled the clinical and genetic data of 157 patients with facioscapulohumeral muscular dystrophy type 1…
Research
Keys to understanding the risk of post-gene therapy myositis in DMD
On 10/03/2025
The teams responsible for developing a gene therapy (GT) mediated by a recombinant adenovirus-associate for Duchenne muscular dystrophy (DMD), delandistrogene moxeparvovec (a gene therapy authorised…
Events
Myobank-AFM is upgrading certification
On 07/03/2025
Myobank-AFM is a department of the Institute of Myology whose mission is to facilitate research in the field of neuromuscular diseases by collecting, preparing, storing…
Research
Pierre Klein wins prestigious MSCA scholarship for post-doctoral project
On 06/03/2025
Pierre Klein is a senior post-doctoral fellow in the Repeat expansions & Myotonic Dystrophy (REDs) team led by Denis Furling. He is the recipient of…
Research
Chiara D’Ercole, a post-doctoral student at the Institute, is the winner of a prestigious MSCA fellowship
On 05/03/2025
Chiara D’Ercole, a post-doctoral fellow in the Signalling pathways & striated muscles team led by Antoine Muchir, has been awarded the highly prestigious MSCA grant…
Research
Two post-doctoral fellows from the Institute awarded prestigious MSCA grant
On 05/03/2025
For the 3rd year running, the European Commission has awarded the highly prestigious Marie Skłodowska-Curie Actions (MSCA) grant to two post-doctoral researchers from the Institute…
Research
Positive phase III results for nipocalimab in generalised myasthenia gravis
On 04/03/2025
The Vivacity-MG3 phase III trial included 153 adults with generalised myasthenia to evaluate nipocalimab, a monoclonal antibody targeting the neonatal Fc receptor (FcRn). Of all…
Research
The first prenatal treatment of SMA with risdiplam in the United States
On 04/03/2025
Richard Finkel’s team (Memphis) has published the first case report of in utero treatment with risdiplam (Evrysdi®) for SMN1-related proximal spinal muscular atrophy, or SMA…