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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
Differential physiological role of BIN1 isoforms in skeletal muscle development, function and regeneration
Prokic I, Cowling BS, Kutchukian C, et al.
Disease models & mechanisms, 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
Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients
Koch C, Buono S, Menuet A, et al.
Molecular therapy. Methods & clinical development, 2020, 17, p 1178
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
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
Different in vivo impact of Dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or Centronuclear Myopathy
Munoz XM, Buono S, Koebel P, et al.
Human molecular genetics, 2019
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
214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015
Donkervoort S, Dowling JJ, Laporte J, et al.
Neuromuscular disorders : NMD, 2019, p 644
HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes.
Berardo A, Lornage X, Johari M, et al.
Journal of neurology, 2019
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
Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes
Rabai A, Reisser L, Reina-San-Martin B, et al.
Molecular therapy. Nucleic acids, 2019, 16, p 246
Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome
Böhm J, Laporte J
Cell calcium, 2018, p 1
Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
Biancalana V, Romero NB, Thuestad IJ, et al.
Acta neuropathologica communications, 2018, 6, 1
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement
Dabaj I, Carlier RY, Gómez-Andrés D, et al.
Muscle & Nerve, 2018
Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice
Tasfaout H, Lionello VM, Kretz C, et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 2018
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
Centronuclear myopathies under attack: A plethora of therapeutic targets
Tasfaout H, Cowling BS, Laporte J
Journal of Neuromuscular Diseases, 2018, 5, 4, p 387
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
