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1670 news items
Pyrimidine nucleotide therapy appears to reduce mortality and restore motor function in TK2 deficiency.
On 23/10/2025
A multicentre retrospective study evaluated the effects of daily oral administration (treatment lasting on average approximately two years) of deoxycytidine or deoxythymidine (≤ 800 mg/kg/day)…
Research
A strategy to effectively prevent sudden cardiac death in DM1
On 22/10/2025
In order to prevent sudden cardiac death in patients with DM1, cardiologists recommend the implantation of a pacemaker in asymptomatic patients with specific abnormalities detectable…
Research
Physiotherapy treatment for patients with SMA in German-speaking areas
On 20/10/2025
A survey on the profile and practices of physiotherapists treating patients with all types of spinal muscular atrophy was conducted within the SMArtCARE network, which…
Events
ERN EURO-NMD webinar, 23 Oct.: Prof Benedikt Schoser (Germany)
On 17/10/2025
Pompe Disease – Current Treatment and Future Prospects Thursday 23 October 2025 – 16:00 – 17:00 Paris time Prof. Benedikt Schoser (Dept. of Neurology, Ludwig-Maximilians-University…
Research
Ectopic pseudarthrosis in fibrodysplasia ossificans progressiva
On 17/10/2025
Fibrodysplasia ossificans progressiva (FOP) usually presents with episodes of ectopic and disabling ossification. American FOP specialists involved in a natural history protocol for this disease…
Research
A scale adapted for newborns with SMA
On 17/10/2025
American and Italian clinicians have developed and tested a new scale that is eagerly awaited in the context of the widespread use of neonatal screening…
Research
Tools for screening asymptomatic hypokalaemic periodic paralysis
On 15/10/2025
Spanish clinicians conducted a clinical, imaging and electrophysiological study on a cohort of patients with hypokalaemic periodic paralysis from the same region and carrying the…
Events
Our 2024 Annual Report is online
On 15/10/2025
The Institute of Myology, an international centre of expertise, coordinates diagnostic, assessment, care, fundamental and applied research, clinical research and teaching activities centred around the…
Research
Neurodevelopment and mental health in children with symptomatic or presymptomatic SMA
On 15/10/2025
Italian clinicians undertook a large neuropsychological and neurobehavioural study in children with SMN1-related proximal spinal muscular atrophy (SMA) type 1 who had received innovative therapy…
Research
An atypical case of acetyl-CoA dehydrogenase deficiency reported in France
On 14/10/2025
Clinicians at Caen University Hospital and Necker-Enfants Malades Hospital in Paris report the case of a 33-year-old female patient whose history was confusing in several…
Events
Two young researchers from the Institute awarded at WMS and ESGCT conferences
On 13/10/2025
Two young researchers, a PhD student and a postdoctoral fellow, from the Muscle organization & therapy of dominant centronuclear myopathy team co-led by Marc Bitoun…
Research
Researchers from the institute attending the MYO-MRI+ conference
On 13/10/2025
The 5th International Imaging in Neuromuscular Disease Conference organised by the MYO-MRI+ consortium will be held in Berlin, Germany, from 9 to 11 November 2025.…
Events
A look back at the Institute’s Fête de la Science
On 13/10/2025
On Monday 6 and Tuesday 7 October, we had the pleasure of welcoming 80 visitors at the Institute of Myology for “Fête de la Science”…
Research
Neurodevelopmental disorders quantified in DMD
On 13/10/2025
While the impact of Duchenne muscular dystrophy (DMD) on patients’ cognition is well known, an Italian team focused specifically on the prevalence of neurodevelopmental disorders…
Research
The added value of artificial intelligence in myasthenia gravis remains to be confirmed
On 10/10/2025
Taiwanese researchers conducted an exhaustive analysis of the literature on artificial intelligence (AI) tools in the context of predictive factors at certain stages of myasthenia…
Events
ERN EURO-NMD webinar, 16 Oct. : Pr Antonio Toscano (Italy)
On 09/10/2025
Management of HyperCKemia Thursday 16 October 2025 – 16:00 – 17:00 Paris time Prof. Antonio Toscano (University of Messina, Italy) > + infos Organized…
Research
An alternative to statin use in cases of immune-mediated necrotising myopathy
On 09/10/2025
Italian clinicians report the results of a study on the use of a new molecule, bempedoic acid, which has lipid-lowering properties but does not carry…
Research
A case immune-mediated necrotising myopathy associated with tuberculosis
On 08/10/2025
An Italian team reports a case of autoimmune necrotising myopathy occurring in the context of active tuberculosis in a 38-year-old migrant: the patient, originally from…
Research
Case report of DNAJB4-related myopathy in France
On 07/10/2025
Myologists from the Paris region, including an expert from the Institute, report the case of a patient with an ultra-rare myopathy: the clinical picture combined…
Research
Three case reports suggest the efficacy of eculizumab in dermatomyositis and myasthenic crisis
On 06/10/2025
Already indicated for refractory forms of myasthenia gravis, eculizumab (Soliris®) has been shown to be effective in two other indications: French clinicians, including experts from…