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Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients
Molenaar JP, Verhoeven JI, Rodenburg RJ, et al.
Brain : a journal of neurology, 2020, 143, 2, p 452
Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation
Schuld J, Orfanos Z, Chevessier F, et al.
Acta neuropathologica communications, 2020, 8, 1, p 154
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
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy
Bauché S, Vellieux G, Sternberg D, et al.
Journal of neurology, 2017, 264, 8, p 1791
Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice
Durmus H, Ayhan Ö, Cirak S, et al.
Neurology, 2016, 87, 8, p 799
The toxic effect of R350P mutant desmin in striated muscle of man and mouse
Clemen CS, Stöckigt F, Strucksberg KH, et al.
Acta neuropathologica, 2015, 129, 2, p 297
Atypical nuclear abnormalities in a patient with Brody disease
Mussini JM, Magot A, Hantaï D, et al.
Neuromuscular disorders : NMD, 2015, 25, 10, p 773
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
Hereditary myopathy with early respiratory failure: occurrence in various populations
Palmio J, Evila A, Chapon F, et al.
Journal of neurology, neurosurgery and psychiatry, 2014, 85, 3, p. 345-353
Advances in the understanding of skeletal muscle weakness in murine models of diseases affecting nerve-evoked muscle activity, motor neurons, synapses and myofibers
Ferry A, Joanne P, Hadj-Said W, et al.
Neuromuscular disorders : NMD, 2014, 24, 11, p 960
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy
Böhm J, Chevessier F, de Paula AM, et al.
American journal of human genetics (The), 2013, 92, 2, p 271
Multisystem disorder and limb girdle muscular dystrophy caused by LMNA p.R28W mutation
Türk M, Wehnert M, Schröder R, et al.
Neuromuscular disorders : NMD, 2013, 23, 7, p. 587-590
Brody syndrome represents a plausible diagnosis for painless exercise-induced stiffness without electrical myotonia : detection of 10 cases related to mutations in ATP2A1 gene
Sternberg D, Chevessier F, Bassez G, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 145
Congenital myasthenic syndromes: experience of the french network : Communication lors du 4th International Congress of Myology (4ème colloque international de Myologie) 9-13 mai 2011 Lille, France
Eymard B, Sternberg D, Richard P, et al.
2011, p 27
Identification of an agrin mutation that causes congenital myasthenia and affects synapse function
Huze C, Bauché S, Richard P, et al.
American journal of human genetics (The), 2009, 85, 2, p 155
Congenital myasthenic syndrome due to mutations in the MUSK gene : characterization of a factor favouring axonal growth
Bauché S, Lipecka J, Vinh J, et al.
Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France)
2008, p. 323
A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions
Chevessier F, Girard E, Molgo J, et al.
Human molecular genetics, 2008, 17, 22, p. 3577-3595
Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK
Chevessier F, Faraut B, Ravel-Chapuis A, et al.
Acta myologica, 2005, XXIV, 2, p 55
De la jonction neuromusculaire au réticulum sarcoplasmique : contribution à l'étude physiopathologique de deux affections neuromusculaires, les syndromes myasthéniques congénitaux et les myopathies à agrégats tubulaires
Chevessier F
Thèse, 2005, 162 p
The origin of tubular aggregates in human myopathies
Chevessier F, Bauché S, Leroy JP, et al.
Journal of pathology (The), 2005, 207, 3, p. 313-323
Caractérisation physiopathologique des syndromes myasthéniques congénitaux : l'exemple de mutations dans le gène MUSK
Chevessier F, Faraut B, Ravel-Chapuis A, et al.
Journal de la Société de biologie, 2005, 199, 1, p 61
Mutations in MUSK cause congenital myasthenic syndrome : Communication lors du Congrès international de myologie (International Congress of Myology) du 9 au 13 mai 2005 Nantes, France
Chevessier F, Faraut B, Ravel-Chapuis A, et al.
2005, p 254
MUSK, a new target for mutations causing congenital myasthenic syndrome
Chevessier F, Faraut B, Ravel-Chapuis A, et al.
Human molecular genetics, 2004, 13, 24, p 3229
Tubular aggregates are from whole sarcoplasmic reticulum origin: alterations in calcium binding protein expression in mouse skeletal muscle during aging
Chevessier F, Marty I, Paturneau-Jouas M, et al.
Neuromuscular disorders : NMD, 2004, 14, 3, p 208
Human skeletal muscle triadin: gene organization and cloning of the major isoform, Trisk 51
Thevenon D, Smida-Rezgui S, Chevessier F, et al.
Biochemical and biophysical research communications, 2003, 303, 2, p 669
