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1699 news items
Events
ERN EURO-NMD webinar, 20 Feb.: Prof. Peter Van den Bergh (Belgium)
On 14/02/2025
Electrodiagnostic patterns in immune-mediated neuropathies Thursday 20 February 2025 – 16:00 – 17:00 Paris time Prof. Peter Van den Bergh (Cliniques universitaires Saint-Luc, Brussels, Belgium) >…
Research
A new natural history of muscle-expressing laminopathies
On 14/02/2025
Italian researchers studied the evolution of clinical and biological parameters in a cohort of patients diagnosed and followed for myopathy related to pathogenic variants of…
Research
Myotubular myopathy: are cardiac compensatory mechanisms at work?
On 13/02/2025
The team at the Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) in Strasbourg has explored the non-neuromuscular effects of myotubular myopathy in…
Research
Correlation between mutated protein domain and clinical phenotype in CMT X1
On 11/02/2025
A French retrospective analysis studied genotype/phenotype correlations in 275 adults with Charcot-Marie-Tooth X1 (CMT X1) disease managed in the 13 largest neuromuscular disease reference centres.…
Research
ENTRY-DM: a European network to train a new generation of young DM1 researchers – Interview with Mario Gomes-Pereira
On 10/02/2025
ENTRY-DM is an MSCA* multidisciplinary doctoral network aimed at developing oligonucleotide-based therapies and preparing clinical trials in myotonic dystrophy, through advanced doctoral training. It brings…
Research
A new case of myopathy secondary to digenismus
On 07/02/2025
Russian researchers have published a study of a sibling with a diagnosis of myopathy linked jointly to the SPRK3 and TTN genes: two brothers aged…
Research
Promising phase IIb results with sonlicromanol in mitochondrial myopathies caused by the m.3243A>G mutation
On 06/02/2025
Positive results have been published from a phase IIb clinical trial evaluating the drug candidate sonlicromanol in mitochondrial diseases caused by the m.3243A>G mutation. The…
Events
ERN EURO-NMD webinar, 13 Feb.: Prof. Thomas Harbo (Denmark) & Dr. Emilien Delmont (France)
On 05/02/2025
Multifocal motor neuropathy (MMN): diagnosis, treatment and update on biomarkers Thursday 13 February 2025 – 16:00 – 17:00 Paris time Prof. Thomas Harbo (Aarhus University, Denmark) &…
Research
Three clinical trials underway in France for Steinert disease
On 04/02/2025
Clinical research into Steinert disease (or myotonic dystrophy type 1 – DM1) is currently benefiting from a new positive impetus, in which France is playing…
Research
Cochrane meta-analysis in preparation on therapies for RYR1-related myopathies
On 04/02/2025
An international consortium of clinicians led by a South African neuropaediatrician has presented a protocol designed to analyse the impact of different therapeutic interventions in…
Events
M&M’s – Muscle Monday Seminar – 10 Feb. – Corinne Albiges Rizo (France)
On 04/02/2025
Signaling intertwining and receptor partitioning between integrins and BMP2 receptors to govern cell migratory strategies Monday 10 February 2025 – from 12 to 1pm Corinne…
Research
A majority of patients with refractory myasthenia gravis experience durable remission after autologous haematopoietic stem cell transplantation
On 03/02/2025
Following an initial report of three cases in 2022, a Canadian team has published the results of a retrospective study of 21 patients with severe…
Research
Biomarkers for assessing fatty acid oxidation deficiencies
On 30/01/2025
French specialists in metabolic diseases have sought to gain a better understanding of the severity and course of patients suffering from fatty acid oxidation disorder…
Research
The first digital functional assessment tool validated in DMD
On 29/01/2025
The international consortium of researchers, including experts from the Institute of Myology, which developed SV95C, a digital parameter for the functional evaluation of Duchenne muscular…
Research
Gene therapy improves cardiomyopathy in Danon disease: results of an initial phase I trial
On 23/01/2025
In the USA, a Phase I trial in Danon’s disease assessed the safety and efficacy of a gene therapy, RP-A501, consisting of intravenous injection of…
Events
M&M’s – Muscle Monday Seminar – 27 Jan. – V. Romanello (Italy)
On 20/01/2025
Metabolic Organelles and Their Role in Muscle Mass Maintenance Monday 27 January 2025 – from 12 to 1pm Vanina Romanello (University of Padova, Italy) Hosted…
Research
A mutation in HSPB8 leads to axial and proximal myofibrillar myopathy beginning in childhood
On 17/01/2025
While mutations in HSPB8 have been associated with distal hereditary motor neuropathy (dHMN2A) or Charcot-Marie-Tooth disease type 2L, five variants (including four affecting the last…
Research
The p.D207V mutation is correlated with a less severe form of GNE myopathy
On 16/01/2025
A retrospective Chinese study of 83 patients with GNE myopathy compared the evolution of 40 carriers of the p.D207V mutation in the gene in question…
Research
A new gene, HMGCS1, causes stiff spine syndrome
On 14/01/2025
An international consortium has reported the discovery of a new gene responsible for rigid spine syndrome (RSS): several families with an RSS phenotype but no…
Research
Registry data to evaluate respiratory function in FSHD
On 13/01/2025
American researchers have used data from the national MD STARnet registry to study the prevalence and typology of respiratory disorders in patients with facioscapulohumeral muscular…