Publications
Yvan de Feraudy et al.
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations
Genome Medicine 2024, vol. 16, issue 1
doi: 10.1186/s13073-024-01353-0
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
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
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
O’Grady GL. et al.
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
Am J Hum Genet. (2016) .99(5):1086-1105
doi: 10.1016/j.ajhg.2016.09.005
Schartner V. et al.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Acta Neuropathol. (2016) Dec 23
doi: 10.1007/s00401-016-1656-8
Neto OA. et al.
Nonlethal CHRNA1-related congenital Myasthenic Syndrome with a homozygous null mutation.
Canadian Journal of Neurological Sciences (2017) Jan. 44 (1):125-127
doi: 10.1017/cjn.2016.322
Mercier S. et al.
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A.
Neurology (2017) Jan. 88(4):414-416.
doi: 10.1212/WNL.0000000000003535
Lornage X. et al.
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
Ann Neurol. 2017 Mar. 81(3):467-473.
doi: 10.1002/ana.24900
Bohm J. et al.
ORAI1 mutations with distinct channel gating defects in tubular aggregate myopathy.
Human Mutation (2017).Mar. 38 (4): 426-438
doi: 10.1002/humu.23172
Schartner V. et al.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta Neuropathol. (2017) Apr. 133(4):517-533.
doi: 10.1007/s00401-016-1656-8
Echaniz-Laguna A. et al.
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
Acta Neuropathol. (2017) Jul.134(1):163-165.
doi: 10.1007/s00401-017-1724-8