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Homozygous C-terminal loss-of-function Na(V)1.4 variant in a patient with congenital myasthenic syndrome
Echaniz-Laguna A, Biancalana V, Nadaj-Pakleza A, et al.
Journal of neurology, neurosurgery, and psychiatry, 2020
Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy
Lefeuvre C, Schaeffer S, Carlier RY, et al.
Molecular genetics and metabolism reports, 2020, 24
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
X-linked myotubular myopathy: A prospective international natural history study
Annoussamy M, Lilien C, Gidaro T, et al.
Neurology, 2019, 92, 16
Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study
Echaniz-Laguna A, Nadjar Y, Behin A, et al.
Journal of inherited metabolic disease, 2019
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing
Krahn M, Krahn M, Biancalana V, et al.
European journal of human genetics : EJHG, 2019, 27, 3, p 349
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
An integrated modelling methodology for estimating the prevalence of centronuclear myopathy
Vandersmissen I, Biancalana V, Servais L, et al.
Neuromuscular disorders : NMD, 2018, 28, 9, p 766
Primary carnitine deficiency in a 57-year-old patient with recurrent exertional rhabdomyolysis
Echaniz-Laguna A, Echaniz-Laguna A, Biancalana V, et al.
BMJ case reports, 2018
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
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
Cabrera-Serrano M, Mavillard F, Biancalana V, et al.
Neurology, 2018, 91, 4
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
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
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
A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels
Abath Neto O, Silva MR, Martins CA, et al.
Pediatric neurology, 2016, 58, p 107
Clinical massively parallel sequencing for the diagnosis of myopathies : L’apport des nouvelles stratégies de séquençage à haut débit dans le diagnostic des myopathies
Gorokhova S, Biancalana V, Lévy N, et al.
Revue neurologique, 2015, 171, 6-7, p 558
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
Extensive morphological and immunohistochemical characterization in myotubular myopathy
Shichiji M, Biancalana V, Fardeau M, et al.
Brain and Behavior, 2013, 3, 4, p 476
An integrated diagnosis strategy for congenital myopathies
Böhm J, Vasli N, Malfatti E, et al.
PLoS ONE, 2013, 8, 6
Adult centronuclear myopathies : a hospital-based study
Echaniz-Laguna A, Biancalana V, Böhm J, et al.
Revue neurologique (Paris), 2013, 169, 8-9, p. 625-631
Next generation sequencing for molecular diagnosis of neuromuscular diseases
Vasli N, Böhm J, Le Gras S, et al.
Acta neuropathologica, 2012, 124, 2, p. 273-283
Clinical utility gene card for: Centronuclear and myotubular myopathies
Biancalana V, Beggs AH, Das S, et al.
European journal of human genetics, 2012, 20, 10
Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype
Vasli N, Laugel V, Böhm J, et al.
European journal of human genetics, 2012, 20, 6, p. 701-704
t de fiches le : 15/03/95