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1655 news items
Events
M&M’s – Muscle Monday Seminar – 13 September – Charlotte A. Peterson (UK)
On 07/09/2021
Novel roles for satellite cells in muscle adaptation and aging Monday September 13th 2021 from 4pm to 5pm Charlotte A. Peterson (Joseph Hamburg Endowed Professor, Director…
Research
When the ERK1/2 pathway disrupts the sarcomere and impairs muscle strength
On 06/09/2021
Emery-Dreifuss muscular dystrophy is characterised by skeletal muscle loss and weakness, associated with dilated cardiomyopathy and cardiac conduction disorders. Although the genetic cause of this…
Research
Efgartigimod reaches phase III in myasthenia gravis
On 06/09/2021
A disorder affecting the neuromuscular junction, Efgartigimod reaches phase III in myasthenia gravis has benefited from relatively intensive therapeutic research for a rare disease, with…
Research
Symptom or not, family history or not, hyperCKemia in a girl should lead to search for a muscular dystrophy
On 03/09/2021
Hereditary neuromuscular diseases are a common cause of persistent hyperCKemia. Duchenne and Becker muscular dystrophies (DMD, DMB), linked to mutations in the DMD gene, are…
Research
A German study clarifies the risk and contraindications of cardiovascular drugs in Myasthenia gravis
On 03/09/2021
Myasthenia gravis is caused by the deleterious action of antibodies produced by the individual and directed against one or more components of the neuromuscular junction.…
Events
Assessment of energy metabolism and blood flow by NMR during and after exercise
On 01/09/2021
Interview with Alfredo Lopez Kolkovsky, researcher from the NMR Imaging and Spectroscopy Laboratory at the Neuromuscular Investigation Centre of the Institute of Myology, jointly managed…
Events
Hope, an exceptional dance gala for the benefit of research excellence
On 01/09/2021
On October 21, at 8:30 p.m., the Casino de Paris will host an exceptional show for the benefit of the Institute of Myology, a research…
Events
M&M’s – Muscle Monday Seminar – 6 September – Adam J. Engler (USA)
On 31/08/2021
Age-dependent Cardiac Dysfunction as a Mechanical Disease Monday September 6th 2021 from 4pm to 5pm Adam J. Engler (Professor and Vice-Chair of Bioengineering at UC San…
Research
The existence of variant triplets within the CTG repeats alleviates the severity of Steinert’s disease without affecting the effectiveness of cognitive behavioral therapy
On 31/08/2021
A genetic analysis carried out in 250 people with Steinert’s disease (DM1) and who participated in the OPTIMISTIC study showed that 21 of them had…
Research
Beneficial effect of gene therapy in model mice of LGMD R1 linked to calpain
On 31/08/2021
Six gene therapy programs are under development in girdle myopathies (LGMD) at Sarepta Therapeutics, in collaboration with the Nationwide Chidren’s Hospital (Columbus, USA). They concern…
Research
A population study quantifies the weight of genes in the occurrence of myositis
On 30/08/2021
Inflammatory myopathies (or idiopathic myositis) seem to arise, like other autoimmune diseases, on a predisposing genetic background. To assess the weight of genes, a team…
Research
Duplications of the SMN1 gene are associated with certain pathologies of the motor neuron
On 25/08/2021
The SMN locus, located in humans in the 5q region, is the site of relative genomic copy number instability of two paralogous genes called SMN1…
Research
The first Solve-RD report confirms the benefit of an exceptional European research project focusing on rare diseases
On 23/08/2021
More than 300 experts from 15 countries, including clinical practitioners, geneticists, patient representatives and researchers, are taking part in the Solve-RD research project, funded by European Union…
Research
PXT3003 in CMT1A : the PREMIER clinical trial starts in France
On 19/08/2021
The first French investigation center for the PREMIER trial has just opened: this is the CHU de la Timone in Marseille, which has just recruited…
Research
Myasthenia gravis: immunoglobulins as maintenance therapy?
On 12/08/2021
Polyvalent immunoglobulins (Ig) have been shown to be effective in treating exacerbations of myasthenia gravis (myasthenic seizure). The results of two retrospective studies, published in…
Research
A new mutation in one of the components of the complex IV of the respiratory chain responsible for MELAS syndrome
On 10/08/2021
MELAS syndrome is one of the mitochondrial diseases described mainly in adults. As its acronym suggests, it combines myopathy (M), encephalopathy (E), lactic acidosis (LA)…
Research
Casimersen examined in a phase I/II trial in limited ambulatory or non-ambulatory DMD patients is well tolerated and eliminated over time
On 06/08/2021
Casimersen (SRP-4045, Amondys45), an antisense oligonucleotide targeting exon 45 skipping of the DMD gene, is one of the exon skipping agents developed in Duchenne muscular dystrophy…
Research
DMC related to LMNA: on a large-scale retrospective natural history
On 05/08/2021
A retrospective international study coordinated by a team from the Myology Centre for Research at the Institute of Myology was conducted to describe the natural…
Research
Decrease the time from diagnosis to the start of the treatment with Treatabolome
On 23/07/2021
The creation of an open platform drawing up an inventory of all existing treatments for rare genetic diseases, including neuromuscular diseases, is one of the…
Research
Dermatomyositis and polymyositis may be associated with a higher risk of cardiovascular complications
On 21/07/2021
Idiopathic inflammatory myopathy is a heterogeneous group of muscle disorders which, in short, consist of four main groups: dermatomyositis, polymyositis (or antisynthetase syndrome), inclusion body…