Myocapture
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
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
Dabaj I et al.
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement
Muscle & Nerve 2018 58(2)
doi: 10.1002/mus.26137
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
Willem De Ridder et al.
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
Neurology Genetics 2019, vol. 5, issue 2
doi: 10.1212/nxg.0000000000000321
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
Nadine AME van der Beek et al.
A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1
European Journal of Human Genetics 2018, vol. 27, issue 3
doi: 10.1038/s41431-018-0250-z
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