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Asymmetric muscle weakness due to ACTA1 mosaic mutations
Lornage X, Quijano-Roy S, Amthor H, et al.
Neurology, 2020
A new glycogen storage disease caused by a dominant PYGM mutation
Echaniz-Laguna A, Lornage X, Laforêt P, et al.
Annals of neurology, 2020
A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers
Evangelista T, Lornage X, Carlier PG, et al.
Journal of neuropathology and experimental neurology, 2020, 79, 8, p 908
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy
Villar-Quiles RN, Catervi F, Cabet E, et al.
Annals of neurology, 2019
16es JSFM : Prix communication orale 2018 - La myopathie liée à PYROXD1 : Caractérisation clinique, histologique, et génétique : 2018 SFM Master Prize: PYROXD1-related myopathy
Lornage X, Romero NB, Laporte J, et al.
Les Cahiers de Myologie, 2019, 35, HS2, p 43
Clinical, histological, and genetic characterization of PYROXD1-related myopathy
Lornage X, Schartner V, Balbueno I, et al.
Acta neuropathologica communications, 2019, 7, 1, p 138
HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes.
Berardo A, Lornage X, Johari M, et al.
Journal of neurology, 2019
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD)
Lornage X, Romero NB, Grosgogeat CA, et al.
Acta neuropathologica, 2019, 137, 3, p 501
Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome
Böhm J, Laporte J
Cell calcium, 2018, p 1
CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy
Böhm J, Lornage X, Chevessier F, et al.
Acta neuropathologica, 2018, 135, 1, p 149
Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei
Lornage X, Sabouraud P, Lannes B, et al.
Journal of Neuromuscular Diseases, 2018, 5, 2, p 257
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies
Avila-Polo R, Avila-Polo R, Malfatti E, et al.
Journal of neuropathology and experimental neurology, 2018, 77, 12, p 1101
Discordant manifestations in Italian brothers with GNE myopathy
Dotti MT, Malandrini A, Lornage X, et al.
Journal of the neurological sciences, 2018, 386
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Schartner V, Romero NB, Donkervoort S, et al.
Acta neuropathologica, 2017, 133, 4, p 517
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy
Echaniz-Laguna A, Lornage X, Lannes B, et al.
Acta neuropathologica, 2017, 134, 1, p 163
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods
Lornage X, Malfatti E, Chéraud C, et al.
Annals of neurology, 2017, 81, 3, p 467
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion
Vasli N, Harris E, Karamchandani J, et al.
Brain : a journal of neurology, 2017, 140, 1, p 37
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy
Böhm J, Bulla M, Urquhart JE, et al.
Human mutation, 2017, 38, 4, p 426
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A
Mercier S, Lornage X, Malfatti E, et al.
Neurology, 2017, 88, 4, p 414
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation
Noury JB, Böhm J, Peche GA, et al.
Neuromuscular disorders : NMD, 2017, 27, 1, p 78
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
Abath-Neto O, Moreno CAM, Malfatti E, et al.
Neuromuscular disorders : NMD, 2017, 27, 11, p 975
Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation
Garibaldi M, Böhm J, Fattori F, et al.
Journal of Neuromuscular Diseases, 2016, 3, 1, p 111
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
Malfatti E, Lehtokari VL, Böhm J, et al.
Acta neuropathologica communications, 2014, 2, 44, 14 p
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
Böhm J, Biancalana V, Malfatti E, et al.
Brain : a journal of neurology, 2014, 137, 12, p 3160
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1
Böhm J, Chevessier F, Koch C, et al.
Journal of medical genetics, 2014, 51, 12, p 824
