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1385 news items
Research
Researchers from the institute’s NMR laboratory attending the ISMRM 2026 annual conference
On 18/05/2026
. Four experts from the NMR Imaging and Spectroscopy Laboratory will present the team’s work at the annual ISMRM (International Society for Magnetic Resonance in…
Research
A new pathogenic mechanism identified in oculo-pharyngo-distal myopathy
On 13/05/2026
Oculo-pharyngo-distal myopathy, with or without leukoencephalopathy, is caused in particular by the repetition of the GGC triplet in regions of DNA previously considered non-coding within…
Research
Sexual dysfunction remains understudied in neuromuscular disorders
On 11/05/2026
A team from the Institute of Myology conducted a literature review to assess the current state of knowledge regarding sexual dysfunction in neuromuscular diseases. The…
Research
Two easy-to-use tools for assessing bulbar function in SMA
On 11/05/2026
Canadian researchers used two tools designed to assess bulbar function in adults with SMN1-related proximal spinal muscular atrophy (SMA): 15 adults with SMA took part…
Research
Ten years of diagnosing congenital muscular dystrophies and congenital myopathies in the UK
On 04/05/2026
The team at Great Ormond Street Hospital in London compiled clinical and molecular data from patients suspected of having congenital myopathy or congenital muscular dystrophy…
Research
Late-onset facio-scapulo-humeral muscular dystrophy constitutes a distinct group
On 30/04/2026
An international consortium of experts on facioscapulohumeral muscular dystrophy (FSHD) has compiled observations from patients diagnosed at a relatively advanced age: using clinical and biological…
Research
Gaining a better understanding of the cause of two deaths linked to dilandistrogene moxeparvovec in order to better prevent them
On 29/04/2026
US experts in gene therapy for Duchenne muscular dystrophy (DMD) have investigated the causes of two deaths that occurred in 2025 and were attributed to…
Research
Rapamycin: an adjunctive treatment for post-gene therapy hepatotoxicity with AAV?
On 28/04/2026
American specialists in gene therapy using adeno-associated viruses (AAV) have investigated the serious cases of liver toxicity that occurred during gene therapy with microdystrophin (delandistrogene…
Research
Study on a very rare form of core myopathy
On 27/04/2026
A study conducted in the Île-de-France region, involving researchers and clinicians from the Institute, describes the case of a patient who was diagnosed with congenital…
Research
The effect of nusinersen on taurine metabolism in SMA
On 24/04/2026
Italian researchers have been investigating taurine, a naturally occurring amino acid whose metabolism appears to be affected in proximal spinal muscular atrophy (SMA): they first…
Research
Is there an increased risk of cancer in autoimmune myasthenia gravis?
On 22/04/2026
Israeli researchers have investigated the risk of developing cancers other than thymoma in patients with autoimmune myasthenia gravis: data on 1,558 adults with myasthenia gravis…
Research
An in-depth and informative analysis of two false-positive cases in neonatal screening for SMA
On 21/04/2026
German and Australian researchers report the case of two newborns who tested positive at birth for SMA: during the initial routine analysis, a homozygous deletion…
Research
A questionnaire to assess the impact of non-dystrophic myotonias
On 21/04/2026
A French consortium of experts, coordinated by the Nice Neuromuscular Reference Centre, has developed a questionnaire called Active-NMD: this new tool is designed for patients…
Research
Rare forms of transition between dermatomyositis and ankylosing spondylitis
On 20/04/2026
American clinicians investigated a number of cases of juvenile dermatomyositis (JDM) in which symptoms and signs consistent with one of the three forms (axial, peripheral…
Research
Certain autoimmune diseases, including myositis, are caused by the internalisation of autoantibodies
On 17/04/2026
Researchers from Strasbourg, as part of an international consortium, report the results of large-scale transcriptomic analyses conducted in the context of autoimmune muscle diseases: using…
Research
Clinical stability in real-world settings following a switch to new enzyme therapies in Pompe disease
On 15/04/2026
Although phase III trials (the COMET and PROPEL trials) have demonstrated the efficacy of next-generation enzyme therapies – avalglucosidase alfa (Nexviadyme®) and cipaglucosidase alfa (Pombiliti®)…
Research
An update on the emerging concept of myotubulinopathy
On 06/04/2026
Pathogenic variants in the TUBA4A gene underlie several phenotypes, some of which manifest as muscular symptoms. An international consortium of researchers has compiled the full…
Research
Two useful biomarkers for a muscle-manifesting mitochondrial disease
On 01/04/2026
Italian and Norwegian researchers report on their work concerning MELAS syndrome (an acronym for Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes), a mitochondrial cytopathy with…
Research
A new prognostic factor in muscular dystrophies with cardiac involvement
On 30/03/2026
Clinicians in the Paris region, some of whom practice at the Institute, report on a study of a new ratio of echocardiographic parameters in patients…
Research
Cases of spontaneous remission of autoimmune necrotizing myopathy
On 27/03/2026
An international consortium of clinicians, including researchers from the Institute*, examined specific cases of statin-associated autoimmune necrotizing myopathy (IMNM), particularly those involving anti-HMGCR autoantibodies: four…