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1655 news items
Research
Measuring type 1 interferon activation: the Lyon experience
On 30/08/2023
In 2018, the immunology laboratory at Hospices civils de Lyon developed a measure of the activation of the type 1 interferon pathway and has since…
Research
Two cases of necrotising enterocolitis in infants with SMA treated with gene therapy
On 29/08/2023
US clinicians report the observation of two unrelated patients with SMN1-related proximal spinal muscular atrophy who developed signs of necrotising enterocolitis (NEC) within days of…
Research
Bulbar involvement improved with Zolgensma in type I SMA
On 29/08/2023
A multidisciplinary American team has carried out post-hoc analyses of the results of the START (phase I) and STR1VE-EU and STR1VE-US (phase III) trials of…
Research
Multifocal heterotopic ossification in a man with LMP-1 variants in his germ cells
On 29/08/2023
The team led by Frederick S. Kaplan (Philadelphia, USA), a specialist in fibrodysplasia ossificans progressiva, reports the case of a 54-year-old man with a history…
Research
Congenital myopathy with rhabdomyolysis extends the phenotypic spectrum of DNMT3 gene mutations
On 28/08/2023
An Australian-Canadian team reported the case of a 25-year-old man with hypotonia at birth, delayed speech and walking at the age of 14 months. During…
Research
A congress organised by the European Federation of CMT Associations
On 28/08/2023
The first European congress devoted to Charcot-Marie-Tooth (CMT) disease was held in Paris on 9 and 10 June 2023, at the initiative of the European…
Research
No European marketing authorisation for palovarotene (Sohonos®)
On 28/08/2023
The European Commission is not granting marketing authorisation for palovarotene in fibrodysplasia ossificans progressiva (FOP), following the opinion of the Committee for Medicinal Products for…
Research
Limiting the post-gene therapy immune response in Pompe disease
On 28/08/2023
Two research teams have focused on reducing the immune response directed against the vector or against the transgene product, which limits the efficacy of gene…
Research
Management of myasthenia gravis: still room for improvement
On 24/08/2023
According to a real-life study carried out in the UK, Germany, Italy, Spain and France involving 778 patients with myasthenia gravis and their 144 doctors…
Research
Are muscle imaging techniques for FSH equivalent?
On 21/08/2023
Italian researchers have compared the respective qualities of quantitative ultrasound and nuclear magnetic resonance (MRI) in the context of the imaging evaluation of facioscapulohumeral muscular…
Research
DMD: swallowing-related quality of life deteriorates over time
On 01/08/2023
An Italian study of 48 men with Duchenne muscular dystrophy (DMD), 26 aged under 30 and 22 aged 30 or over, showed that: swallowing-related quality…
Events
Newborn screening for primary carnitine deficiency can also detect mothers with few symptoms
On 31/07/2023
Two publications on neonatal screening (NNS) for primary carnitine deficiency, which has recently been added to the panel of diseases screened at birth in France,…
Research
Covid-19: retrospective arguments in favour of priority protection for myasthenia gravis patients
On 27/07/2023
A study of the health data of more than 11 million people living in the Canadian province of Ontario, covering the period from 15 January…
Research
Treat ocular myasthenia with or without immunosuppressive therapy?
On 27/07/2023
Analysis of the records of 135 patients treated at an expert centre in Japan for an ocular form of autoimmune myasthenia found : 89% of…
Research
Defects in the FILIP1 gene lead to a new form of congenital myopathy associated with facial and cerebral anomalies
On 25/07/2023
An international collaboration reports for the first time the description of five children, from four unrelated consanguineous families, with a pathological bi-allelic variant of the…
Mixed results of exercise-associated testosterone in inclusion body myositis
On 24/07/2023
An Australian team evaluated the combined effects of daily testosterone (topical) and a physical training programme in 14 men aged 48 to 81 with inclusion…
Research
The results of three phase III trials in myasthenia gravis have been published!
On 24/07/2023
France was one of the investigating countries in a trio of international trials designed to evaluate immunomodulating monoclonal antibodies or antibody fractions in myasthenia gravis…
Events
Caveolinopathy: clinical, histological and muscle imaging characteristics and follow-up of a multicentre retrospective cohort
On 21/07/2023
Caveolinopathies are a small group of neuromuscular diseases associated with dysfunction of a family of proteins located in muscle membrane crevices. The most common caveolinopathy…
Research
A questionnaire on the use of medical cannabis in CMT
On 21/07/2023
Fifty-six people with Charcot-Marie-Tooth disease completed an online questionnaire to express the benefits they felt from using medical cannabis: Most reported an improvement in pain…
Research
Is there a correlation between cerebral and muscular phenotypes in congenital muscular dystrophy linked to the LAMA2 gene?
On 21/07/2023
Brazilian clinicians have compiled clinical data and brain imaging results from patients with merosine deficiency (congenital muscular dystrophy linked to the LAMA2 gene) with a…