Projet-Myocapture
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
Miguel M. Pinto et al.
Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3 ‐related type 1 pontocerebellar hypoplasia
Muscle & Nerve 2018
doi: 10.1002/mus.26305
Maria-Teresa Dotti et al.
Discordant manifestations in Italian brothers with GNE myopathy
Journal of the Neurological Sciences 2018, vol. 386
doi: 10.1016/j.jns.2018.01.002
Alain Meyer et al.
IFN-β-induced reactive oxygen species and mitochondrial damage contribute to muscle impairment and inflammation maintenance in dermatomyositis
Acta Neuropathologica 2017, vol. 134, issue 4
doi: 10.1007/s00401-017-1731-9
Schartner V. et al.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Acta Neuropathol. (2016) Dec 23
doi: 10.1007/s00401-016-1656-8
Biancalana V. et al.
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Acta Neuropathol. (2017) Dec. 134(6):889-904.
doi: 10.1007/s00401-017-1748-0
Abath Neto O. et al.
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
Neuromuscul Disord. (2017) Nov. 27(11):975-985.
doi: 10.1016/j.nmd.2017.05.016