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1699 news items
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…
Research
Pregnancy in a woman with myasthenia gravis, a risky situation
On 05/10/2022
The Healthcare cost and utilization project, nationwide inpatient sample (HCUP-NIS) database includes information on more than 7 million hospital stays in the United States each…
Research
Inhibiting the proteasome to treat OPMD
On 04/10/2022
Researchers from the University of Montpellier, supported by the AFM-Telethon, have shown that muscle cell damage in oculopharyngeal muscular dystrophy (OPMD) is mediated by overactivation…
Research
A non-Kennedy SBMA linked to the UBA1 gene
On 04/10/2022
A new form of bulbospinal muscular atrophy has just been described by Iranian clinicians in 4 patients: it is an SBMA linked to the UBA1…
Research
Early-onset SMA: a German real-life study of children treated with nusinersen
On 03/10/2022
Analysis of data collected by the German-speaking SMArtCARE observatory of 143 patients under 18 years of age with early-onset SMA who had not acquired sitting…
Events
30 September: International Muscular Dystrophy Awareness Day
On 29/09/2022
The 8th International Limb Girdle Muscular Dystrophy Awareness Day will take place on 30 September. Organised by the LGMD Awareness Foundation, the aim of this…
Research
FKRP Limb-girdle muscular dystrophy : 1st patient treated in the European gene therapy clinical trial
On 29/09/2022
The AFM-Telethon and its laboratory Genethon are delighted with the treatment of the first patient included in the European gene therapy trial for limb-girdle muscular…
Research
Moxifloxacin, an antibiotic of interest in SMA
On 29/09/2022
An I-STEM team identified moxifloxacin for its ability to increase SMN protein production in a cell-based model screen of already marketed molecules. Administered daily subcutaneously…
Events
10th edition of the “1000 researchers in schools” campaign – 7 Nov-3 Dec
On 28/09/2022
The scientific campaign operation for secondary school students “1000 researchers in schools in France and abroad” is celebrating its 10th anniversary! It will take place…
Research
A review of the literature compares prednisone and deflazacort in DMD and favours the latter in the short term, while in the long term their effects are similar
On 22/09/2022
Corticosteroids prescribed from the age of 4 to 5 years in Duchenne muscular dystrophy enable the loss of walking to be delayed by at least…
Research
ERN EURO-NMD webinar, Sept. 22nd : Prof. Costanza Lamperti (Italy)
On 22/09/2022
Mitochondrial Genetics Thursday September 22nd, 2022 – 16:00-17:00 (Paris time) Prof. Costanza Lamperti (lstituto Neurologico C.Besta, Milan, Italy) Please register here to attend the webinar Webinar…
Research
What alternative to face-to-face rehabilitation in DMD?
On 19/09/2022
In a study published in May 2022, a Turkish team carried out a measurement of muscle strength and a functional evaluation of motor performance in…
Events
Research
Myology 2022: opening session
On 16/09/2022
On Monday, September 12, took place the opening session of the 7th edition of the international congress Myology 2022 was held with Laurence Tiennot-Herment, president…
Research
McArdle: clinical trial proves benefits of exercise
On 14/09/2022
A clinical trial of 17 people with McArdle’s disease demonstrated the potential benefits of a 2-year training program targeting endurance and strength. Six of the…
Events
Research
Myology 2022: Institute of Myology experts will highlight their last scientific results
On 09/09/2022
During four days, from 12 to 15th of September, researchers and clinicians of the Institute of Myology will attend the seventh International Congress of Myology,…
Events
REDs lab offers a post-doctoral position
On 06/09/2022
RNA metabolism and astrocyte dysfunction in myotonic dystrophy A two-year postdoctoral position is available from early 2023, in the laboratory Repeat Expansions and Myotonic Dystrophy,…
Research
Diaphragm involvement in Pompe disease more clearly visualized on imaging
On 02/09/2022
The diaphragmatic muscle is a key muscle in Pompe disease, which causes its dysfunction due to a toxic accumulation of glycogen. Dutch researchers studied this…