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1655 news items
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…
Events
2025, Empowering muscle, fostering hope and health for all!
On 10/01/2025
Dear patients and families, Dear donors, Dear partners, All the teams and staff at the Institute of Myology wish you happiness, success and health…
Research
A study of the paraspinalis and thigh muscles before and after spinal surgery
On 10/01/2025
French researchers have studied the imaging of spinal and thigh muscles in patients with SMA before and after corrective spinal surgery: 20 patients with type…
Research
Dermatomyositis and cancer are significantly associated
On 09/01/2025
A French multicentre retrospective study of 73 patients with cancer-associated dermatomyositis, followed for an average of 3.92 years, involving experts from the Institute of Myology,…
Research
Risdiplam in SMA: feedback from adults in France
On 08/01/2025
Practitioners at the Neuromuscular Reference Centre at the Henri-Mondor University Hospital (Créteil) report their real-life experience of treating six adults with SMA: four with type…