Support our Foundation of Myology project
1655 news items
Research
Brain dystrophin restoration improves memory in mdx mice
On 24/10/2022
In a study published in May 2022, two French teams succeeded in partially restoring dystrophin in certain brain regions of adult mdx mice, an animal…
Research
A family observation of primary dysferlinopathy, an autosomal dominant genetic disorder
On 21/10/2022
Until now, dysferlin deficiencies reported in human pathology have all been inherited in the autosomal recessive mode. A few heterozygous individuals have been reported with…
Research
A natural history study to better understand certain myopathies of mitochondrial origin
On 20/10/2022
Italian researchers studied 117 patients with mitochondrial pathologies with muscle expression. Three groups were formed (purely muscular mitochondriopathy, progressive external ophthalmoplegia [PEO] and mixed) The…
Research
The concept of ‘actionable’ genes applied to myopathies
On 19/10/2022
A gene responsible for a given disease is said to be ‘actionable’ if it has direct or indirect therapeutic applications. This new concept in the…
Research
Should carpal tunnel or cubital tunnel syndrome in CMT 1A and HNPP neuropathy be operated on?
On 19/10/2022
Nerve involvement in CMT 1A and HNPP neuropathy (tomacular or pressure palsy neuropathy) may increase the risk of carpal tunnel or cubital tunnel syndrome and…
Events
The work of two researchers from the Institute awarded at the WMS
On 17/10/2022
Two researchers from the institute were awarded prizes for their work at the WMS 2022 conference held in Halifax, Canada, and online from 11 to…
Events
M&M’s – Muscle Monday Seminar – 17 November – Pascale Bomont (France)
On 17/10/2022
Intermediate filaments: from mechanisms in giant axonal neuropathy to therapeutic perspectives for IF-pathies– November 17th, 2022 – 12:00 – 13:00 Pascale Bomont, PhD (ERC group leader, INSERM…
Research
A new type of complication related to SMA gene therapy
On 17/10/2022
Italian clinicians report the case of a three-year-old child with SMA type 1 who developed hemophagocytic lymphohistiocytosis (HLH) three days after an intravenous injection of…
Research
Low levels of anti-AAV9 and not age-dependent in adults with SMA
On 14/10/2022
German clinicians determined the level of anti-AAV9 antibodies in 69 adults with SMA type II and III. Using a threshold greater than 1/50 as an…
Research
A new lead in the treatment of MELAS syndrome
On 14/10/2022
The MELAS syndrome is a mitochondrial disease with a partly neuromuscular expression and is related, in the vast majority of cases, to a point mutation…
Research
A broad natural history study in myotonic dystrophies
On 13/10/2022
The American Myotonic Dystrophy Registry is, after the French DM-scope database, one of the most important registries for Steinert disease (DM1) and myotonic dystrophy type…
Research
The first French series of patients with HINT1 neuropathy suggests a wider phenotypic and genotypic range
On 13/10/2022
Neuropathies or neuromyotonias related to the HINT1 gene are of recent discovery (2012). A group of French experts gathered under the aegis of FILNEMUS, the French…
Research
A comparative study of two muscle biopsy techniques
On 12/10/2022
Australian rheumatologists conducted a study to compare the feasibility and diagnostic performance of two techniques of muscle tissue sampling: one based on open biopsy, usually…
Research
Myotubular myopathy: valproic acid improves mouse models and leads to the identification of a specific epigenetic signature
On 12/10/2022
Screening of 1280 molecules on zebrafish models of X-linked myotubular myopathy (XLMTM) showed that histone deacetylase (HDAC) inhibitors such as valproic acid or trichostatin A…
Research
DMB: EDG-5506 moves to phase II
On 11/10/2022
Following the success of phase Ia and Ib, Edgewise Therapeutics announced in a July 2022 press release the launch of phase II to evaluate EDG-5506, an…
Events
Experts from the Institute at WMS 2022
On 10/10/2022
The 27th World Muscle Society International Congress (WMS) will be held from October 11 to 15, 2022 in Halifax, Canada, as well as in a virtual version…
Research
ERN EURO-NMD webinar, Oct. 13th : Robert Pangalila (The Netherlands)
On 07/10/2022
Quality of life in Neuromuscular Disease Thursday October 13th, 2022 – 16:00-17:00 (Paris time) Robert Pangalila (Rijndam Rehabilitation Clinic and Erasmus University Medical Centre, The Netherlands) …
Research
Characterisation of PABPN1 aggregates in OPMD – Interview with Capucine Trollet
On 07/10/2022
The results of an international study conducted by the Institute’s Capucine Trollet and Vincent Mouly team have just been published in Acta Neuropathologica. The article relates…
Research
Myositis with interstitial lung disease: arguments to better consider lung transplantation
On 06/10/2022
A retrospective analysis of 64 lung transplants performed by 19 expert centers in Europe (including France) in adults with myositis complicated by interstitial lung disease…
Research
A tool to evaluate cardiac risk in patients with mitochondrial disease – Interview with Karim Wahbi
On 06/10/2022
Prof. Karim Wahbi, a cardiologist, has just published the results of an international study that he coordinated with his “Registries and databases” team at the…