Myocapture
Laura vanden Brande et al.
Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation
Neuropathology and Applied Neurobiology 2023, vol. 50, issue 1
doi: 10.1111/nan.12952
Clémence Labasse et al.
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
Acta Neuropathologica Communications 2022, vol. 10, issue 1
doi: 10.1186/s40478-022-01400-0
Hong Joo Kim et al.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Nature Communications 2022, vol. 13, issue 1
doi: 10.1038/s41467-022-30015-1
Valérie Biancalana et al.
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
Acta Neuropathologica Communications 2021, vol. 9, issue 1
doi: 10.1186/s40478-021-01254-y
Denisa Hathazi et al.
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH
Brain 2021, vol. 144, issue 8
doi: 10.1093/brain/awab133
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