Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons

Autor: Arnaud Jacquier, Valérie Risson, Thomas Simonet, Florine Roussange, Nicolas Lacoste, Shams Ribault, Julien Carras, Julian Theuriet, Emmanuelle Girard, Isabelle Grosjean, Laure Le Goff, Stephan Kröger, Julia Meltoranta, Stéphanie Bauché, Damien Sternberg, Emmanuel Fournier, Anna Kostera-Pruszczyk, Emily O’Connor, Bruno Eymard, Hanns Lochmüller, Cécile Martinat, Laurent Schaeffer

Publikováno v: Acta Neuropathologica
Acta Neuropathologica, 2022, 144 (4), pp.707-731. ⟨10.1007/s00401-022-02475-8⟩

Congenital myasthenic syndromes (CMS) are predominantly characterized by muscle weakness and fatigability and can be caused by a variety of mutations in genes required for neuromuscular junction formation and maintenance. Among them, AGRN encodes agr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f48186247331b96d38b604960b0a548b
https://hal.science/hal-03863096

Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations

Autor: Julian Theuriet, Antoine Pegat, Pascal Leblanc, Sandra Vukusic, Cécile Cazeneuve, Stéphanie Millecamps, Guillaume Banneau, Marine Guillaud-Bataille, Emilien Bernard

Publikováno v: Genes
Genes, MDPI, 2021, 12 (12), pp.1876. ⟨10.3390/genes12121876⟩
Genes, 2021, 12 (12), pp.1876. ⟨10.3390/genes12121876⟩
Genes, Vol 12, Iss 1876, p 1876 (2021)

Biallelic mutations in the CYP7B1 gene lead to spastic paraplegia-5 (SPG5). We report herein the case of a patient whose clinical symptoms began with progressive lower limb spasticity during childhood, and who secondly developed amyotrophic lateral s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::74b4e529025e71db958aa970b42135fd
https://hal.sorbonne-universite.fr/hal-03457266