Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis

Archive ouverte | Theuriet, J. | CCSD

International audience. Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous diseases caused by mutations affecting neuromuscular transmission. Even if the first symptoms mainly occur d...

Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study.

Archive ouverte | Fargeot, Guillaume | CCSD

International audience. BackgroundHereditary transthyretin amyloidosis (ATTRv) is an adult-onset autosomal dominant disease resulting from TTR gene pathogenic variants. ATTRv often presents as a progressive polyneur...

Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry.

Archive ouverte | Semplicini, C. | CCSD