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1699 news items
Research
An original case of congenital titinopathy in an adult
On 02/10/2023
Researchers at the Créteil Neuromuscular Reference Centre (Henri-Mondor University Hospital) report the observation of a 36-year-old patient with a congenital onset of titinopathy: initial hypotonia…
Research
Characteristics of and response to treatment for double seronegative myasthenia gravis
On 02/10/2023
A retrospective Canadian study of 80 people with double-seronegative myasthenia for anti-RACh and anti-MuSK antibodies, compared with 73 people with myasthenia for anti-RACh antibodies, showed…
Research
Study of the cardiac fibroblast phenotype derived from IPS stem cells from patients with DMD
On 02/10/2023
A European consortium of researchers has studied the biological and molecular characteristics of cardiac fibroblasts generated from induced pluripotent stem cells (IPSCs) from Duchenne muscular…
Research
How scoliosis and scoliosis surgery affect lifespan in DMD
On 29/09/2023
A retrospective study carried out between January 2000 and August 2022 by Scottish surgeons on 113 patients with Duchenne muscular dystrophy (DMD) showed that 43…
Research
MTM1 gene therapy effective in BIN1-related centronuclear myopathy
On 28/09/2023
In July 2023, a team from the Institut de Génétique et de Biologie Moléculaire et Cellulaire in Strasbourg published the validation of a new therapeutic…
Research
Results of a survey on pregnancy in CMT disease
On 28/09/2023
British team conducted a survey of 92 women with Charcot-Marie-Tooth (CMT) disease to assess their experiences of pregnancy and childbirth (171 in total): the participants…
Research
DMD and newborn screening: results of a two-year American pilot programme
On 28/09/2023
An American team conducted a two-year pilot study in several New York hospitals to assess the feasibility and benefits of newborn screening for Duchenne muscular…
Research
The distribution of genetic anomalies in CMT in China reveals differences in the paediatric population
On 28/09/2023
Chinese researchers have studied the genotype of 181 children with all-types Charcot-Marie-Tooth disease: several techniques were used: search for duplication/deletion of the PMP22 gene, CMT…
Research
DMD: the EMA’s CHMP has ruled against the marketing authorisation and the renewal of the conditional marketing authorisation for translarna
On 26/09/2023
Translarna (ataluren), developed by the laboratory PTC Therapeutics, has until now benefited from a conditional marketing authorisation for Duchenne muscular dystrophy, granted by the EMA…
Research
Identification of a new form of congenital myasthenic syndrome – Interview with Marion Masingue and Stéphanie Bauché
On 25/09/2023
The case of a patient presenting an atypical form of congenital myasthenic syndrome with the identification of a new mutation in the LRP4 gene has…
Research
The presence of fever increases the risk of serious respiratory complications in inflammatory myopathies
On 25/09/2023
Chinese researchers analyzed a series of 79 patients with idiopathic inflammatory myopathy, distinguishing between those with prolonged fever at the initial stage of their disease…
Research
Heterozygote screening techniques are almost equally effective in SMA
On 25/09/2023
Chinese researchers tested five different laboratory techniques designed to determine the status of the SMN1 and SMN2 genes in 516 reference samples. These techniques included:…
Research
Improved diaphragmatic impairment in nusinersen-treated SMA
On 22/09/2023
German researchers studied diaphragmatic function in 28 adults with SMA, before and after treatment with nusinersen (Spinraza®) : 10 with SMA type II and 14…
Events
The Neuropathies Rehabilitation Summer School
On 20/09/2023
The Neuropathies Rehabilitation Summer School, organised under the auspices of the ERN EURO-NMD, took place in Rome from 18 to 21 September 2023. Its main…
Research
Towards a better assessment of calcinosis associated with certain cases of dermatomyositis
On 19/09/2023
Dermatomyositis is accompanied, in a significant number of cases, and most often in the medium to long term, by para-articular calcifications (calcinosis). The pathophysiology of…
Research
Extension of the indication for Evrysdi now authorised from birth in Europe
On 18/09/2023
The European Commission has approved the extension of the marketing authorisation for Evrysdi (risdiplam): Evrysdi (risdiplam) will become available from birth in SMA type I,…
Research
Molecular characterisation of SMA not linked to chromosome 5q remains imperfect
On 18/09/2023
A very small percentage of patients with a phenotype compatible with spinal muscular atrophy are found not to have homozygous deletions or point mutations in…
Research
Publication of two major natural history studies in CMT X1
On 15/09/2023
The Inherited Neuropathies Consortium (INC) has published the medical and genetic data of 387 patients with Charcot-Marie-Tooth X1 disease (linked to the GJB1 gene), followed…
Events
The 2023 edition of the “1000 researchers in schools” operation
On 14/09/2023
The 2023 edition of the “1000 researchers in schools” operation will run from 6 November to 8 December. During this period, speakers from laboratories supported…
Events
Our Annual Report 2022 is online
On 14/09/2023
2022 was a particularly eventful year, with the development of strategic cross-functional projects, the creation of a team to accelerate our digital transformation, the strengthening…