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Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen
Gomez-Garcia de la Banda M, Amaddeo A, Khirani S, et al.
Pediatric pulmonology, 2020
Asymmetric muscle weakness due to ACTA1 mosaic mutations
Lornage X, Quijano-Roy S, Amthor H, et al.
Neurology, 2020
Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry
Semplicini C, De Antonio M, Taouagh N, et al.
Journal of inherited metabolic disease, 2020
Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy
Lefeuvre C, Schaeffer S, Carlier RY, et al.
Molecular genetics and metabolism reports, 2020, 24
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
Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations
Vázquez J, Lefeuvre C, Escobar RE, et al.
Journal of Neuromuscular Diseases, 2020, 7, 4, p 443
MYO-MRI diagnostic protocols in genetic myopathies.
Chardon JW, Diaz-Manera J, Tasca G, et al.
Neuromuscular disorders : NMD, 2019, 29, 11, p 827
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
Barp A, Laforêt P, Bello L, et al.
Journal of neurology, 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
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
Alonso-Jimenez A, Alonso-Jimenez A, Kroon RHMJM, et al.
Journal of neurology, neurosurgery, and psychiatry, 2019, 90, 5, p 576
Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders
Fayssoil A, Nguyen LS, Ogna A, et al.
PLoS ONE, 2019, 14, 4
Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III
Tobaly D, Laforêt P, Perry A, et al.
Muscle & Nerve, 2019
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD)
Lornage X, Romero NB, Grosgogeat CA, et al.
Acta neuropathologica, 2019, 137, 3, p 501
Echographic Assessment of Diaphragmatic Function in Duchenne Muscular Dystrophy from Childhood to Adulthood
Fayssoil A, Chaffaut C, Ogna A, et al.
Journal of Neuromuscular Diseases, 2019, 6, 1, p 55
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity
Tordjman M, Dabaj I, Laforêt P, et al.
European radiology, 2018
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
The first French case of MATR3-related distal myopathy: Clinical, radiological and histopathological characterization
Barp A, Malfatti E, Metay C, et al.
Revue neurologique, 2018
MRI in sarcoglycanopathies: a large international cohort study
Tasca G, Monforte M, Diaz-Manera J, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018, 89, 1, p 72
Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up
Gómez-Andrés D, Gómez-Andrés D, Diaz-Manera J, et al.
Muscle & Nerve, 2018, 58, 6, p 812
WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon
Masingue M, Perrot J, Carlier RY, et al.
Neurogenetics, 2018, 19, 2, p 67
Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders
Fayssoil A, Behin A, Ogna A, et al.
Journal of Neuromuscular Diseases, 2017
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Biancalana V, Scheidecker S, Miguet M, et al.
Acta neuropathologica, 2017, 134, 6, p 889
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
HyperCKemia and myalgia are a common presentation of Anoctamin-5 (ANO5)-related myopathy in French patients
Papadopoulos C, Laforêt P, Nectoux J, et al.
Muscle & Nerve, 2017, 56, 6, p 1096
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency
Ben Yaou R, Hubert A, Nelson I, et al.
Neurology. Genetics, 2017, 3, 6
