Projet-Myocapture

Xavière Lornage et al.
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy
neurogenetics 2021, vol. 22, issue 1
doi: 10.1007/s10048-020-00632-3

Xavière Lornage et al.
Asymmetric muscle weakness due to ACTA1 mosaic mutations
Neurology 2020, vol. 95, issue 24
doi: 10.1212/wnl.0000000000010947

A. Reghan Foley et al.
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome
Annals of Neurology 2020, vol. 88, issue 2
doi: 10.1002/ana.25772

Xavière Lornage et al.
Clinical, histological, and genetic characterization of PYROXD1-related myopathy
Acta Neuropathologica Communications 2019, vol. 7, issue 1
doi: 10.1186/s40478-019-0781-8

Gilles Morin et al.
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation
Human Mutation 2019, vol. 41, issue 1
doi: 10.1002/humu.23899

Andrés Berardo et al.
HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes
Journal of Neurology 2019, vol. 266, issue 10
doi: 10.1007/s00415-019-09437-3

Lornage X et al.
Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei
Journal of Neuromuscular Diseases 2018 5(2)
doi: 10.3233/JND-170265

Ávila-Polo R et al.
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies
Journal of Neuropathology & Experimental Neurology 2018 77(12)
doi: 10.1093/jnen/nly095

Böhm J et al.
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures
Journal of Medical Genetics 2018, vol. 56, issu 9
doi: 10.1136/jmedgenet-2018-105390

Xavière Lornage et al.
ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)
Acta Neuropathologica 2019, vol. 137, issue 3
doi: 10.1007/s00401-019-01963-8