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1655 news items
Research
A very rare Kennedy disease genotype in a Norwegian family
On 18/02/2022
Kennedy’s disease is a degenerative disease transmitted in a X-linked recessive mode. The case of two sisters who both inherited two pathological alleles of the…
Research
Irreversible consequences of temporarily stopping ERT in Pompe disease
On 17/02/2022
Due to the Covid-19 epidemic, 31 patients with Pompe disease had to stop their treatment with enzyme replacement therapy (ERT), alglucosidase alfa or Myozyme®, in…
Research
International guidelines to improve assessment in MNMs
On 17/02/2022
Clinical assessment is an essential step not only in the follow-up of patients with neuromuscular pathology but also in the context of trials, whether natural…
Research
ERN EURO-NMD webinar, Feb 24th: Pr Rita Horvath (UK)
On 17/02/2022
Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a “Treatabolome” Thursday February 24th, 2022 – 16:00-17:00 (Paris time) Prof Rita Horvath (University of Cambridge,…
Research
Corticosteroids may improve or stabilize motor function in Fukuyama congenital muscular dystrophy
On 14/02/2022
This is shown by a Japanese prospective study carried out openly in 9 children with an average age of 8.1±2.14 years. One had a moderate…
Press releases
A new approach to gene therapy for Steinert disease – Interview with Denis Furling
On 10/02/2022
The Denis Furling* team (Paris, France), in collaboration with the Nicolas Sergeant** team (Lille, France), has developed and tested a new approach to gene therapy,…
Research
An ancillary study of the ginivostat trial in Becker myopathy looking for more objective criteria
On 10/02/2022
The primary endpoint for evaluating ginivostat in Becker muscular dystrophy is the change in fibrosis on muscle biopsy after one year of treatment. Based on…
Research
A promising technique to study muscle fibrosis at the cardiac level
On 10/02/2022
French researchers from Nantes have developed a new technique for 3D visualization of muscle fibrosis based on automated image analysis (known as second harmonic generation…
Research
ERN EURO-NMD webinar, Feb 17th: Pr Michelangelo Mancuso (Italy)
On 10/02/2022
Primary mitochondrial myopathies Thursday February 17th, 2022 – 16:00-17:00 (Paris time) Prof Michelangelo Mancuso (University of Pisa & AOUP, Italy) “Mitochondrial Disorders Thematic Month” Webinar…
Research
A first positive assessment of the Japanese myotonic dystrophies registry
On 09/02/2022
Steinert’s disease or myotonic dystrophy type 1 (DM1) is, in Japan as elsewhere, one of the most common neuromuscular diseases, especially in the adult population.…
Research
A cohort of patients with DMD with exon 2 duplication
On 09/02/2022
Duplications of the DMD gene encoding dystrophin are rare and represent a real therapeutic challenge. An American team compiled the clinical and biological data of…
Press releases
Lower limb exoskeletons: 2 clinical studies starting at the Institute
On 08/02/2022
The rare neuromuscular diseases are characterised, in particular, by a progressive loss of muscle strength. As a result, getting up, sitting down or going up…
Events
M&M’s – Muscle Monday Seminar – 14 February – Cecilia Jimenez-Mallebrera (Spain)
On 08/02/2022
Multiple approaches to investigate congenital muscular dystrophies Monday February 14th, 2022 – 12:00 – 13:00 Cecilia Jimenez-Mallebrera, PhD (Research Coordinator Neuromuscular Unit, Hospital Sant Joan de…
Research
Antisense oligonucleotides targeting the promoter region of the SMN2 gene in preclinical development in SMA
On 07/02/2022
A Chinese team studied the effects of two antisense oligonucleotides targeting a key region of the methylation of the promoter of the SMN2 gene, in…
Research
The number of people with MNM has been steadily rising for 20 years in the UK
On 07/02/2022
A UK epidemiological study using primary care medical data from nearly 13 million people per year between 2000 and 2019 shows that: in 2019, 28,230…
Research
Myositis carries an increased cardiovascular risk according to several large-scale studies
On 04/02/2022
Having dermatomyositis or polymyositis would, in itself, be a risk factor for coronary artery disease, even if the underlying physiopathological mechanisms remain to be precisely…
Research
Genetic causes of tubular aggregate myopathy remain common
On 04/02/2022
Tubular aggregate myopathies are very rare neuromuscular diseases characterized by histological lesions easily recognizable by optical microscopy. They are not all of genetic origin. Exome…
Research
Positive anti-FHL1 antibodies in certain inflammatory myopathies
On 04/02/2022
Australian and Swedish researchers have studied the immunological profile of patients with normal inflammatory myopathies (274) or scleroderma (174) and compared them with those of…
Research
Correlations between histology and immunological signature in dermatomyositis
On 01/02/2022
The classification of dermatomyositis (DM) has undergone profound changes since the identification of myositis-specific autoantibodies (MSA). Tokyo neuromuscular pathology specialists re-evaluated 256 muscle biopsies from…
Research
Lipid nanoparticles to improve gene editing in mice
On 01/02/2022
Genome editing using CRISPR-Cas9 methodology mediated by an adenovirus-associated virus (AAV) has shown its effectiveness in mice but comes up against the impossibility of repeating…