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In vivo RyR1 reduction in muscle triggers a core-like myopathy
Pelletier L, Petiot A, Brocard J, et al.
Acta neuropathologica communications, 2020, 8, 1, p 192
rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy
Ross JA, Tasfaout H, Levy Y, et al.
Acta neuropathologica communications, 2020, 8, 1, p 167
Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies
Guimaraes-Costa R, Fernandez-Eulate G, Wahbi K, et al.
European journal of neurology, 2020
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy
Geraud J, Dieterich K, Rendu J, et al.
Journal of medical genetics, 2020
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 new congenital multicore titinopathy associated with fast myosin heavy chain deficiency
Perrin A, Metay C, Villanova M, et al.
Annals of clinical and translational neurology, 2020
Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin
Munoz XM, Kretz C, Silva-Rojas R, et al.
JCI insight, 2020, 5, 18
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
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series
Villar-Quiles RN, von der Hagen M, Metay C, et al.
Neurology, 2020, 95, 11
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
Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy
Villar-Quiles RN, De la Banda MGG, Barois A, et al.
Journal of Neuromuscular Diseases, 2019
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment
Laforêt P, Inoue M, Goillot E, et al.
Acta neuropathologica communications, 2019, 7, 1, p 167
Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants
Gonzalez-del Angel A, Bisciglia M, Vargas-Canas S, et al.
Frontiers in neurology, 2019, 10, 1049
KBTBD13 is an actin-binding protein that modulates muscle kinetics
de Winter JM, Molenaar JP, Yuen M, et al.
The Journal of clinical investigation, 2019
X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures
Brisset M, Ben Yaou R, Carlier RY, et al.
Neuromuscular disorders : NMD, 2019, 29, 9, p 678
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
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
Olivé M, Engvall M, Ravenscroft G, et al.
Nature communications, 2019, 10, 1
Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice
Lionello VM, Nicot AS, Sartori M, et al.
Science translational medicine, 2019, 11, 484
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies
Garibaldi M, Garibaldi M, Rendu J, et al.
Acta neuropathologica communications, 2019, 7, 1
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD)
Lornage X, Romero NB, Grosgogeat CA, et al.
Acta neuropathologica, 2019, 137, 3, p 501
A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1
Ame van der Beek N, Ame van der Beek N, Nelson I, et al.
European journal of human genetics : EJHG, 2018
Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.
Garibaldi M, Fattori F, Bortolotti CA, et al.
Acta neuropathologica communications, 2018, 6, 1
