Grand Projet
Schartner V. et al.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta Neuropathol. (2017) Apr. 133(4):517-533.
doi: 10.1007/s00401-016-1656-8
Leroy T. et al.
Extensive recent secondary contacts between four European white oak species.
New Phytol. (2017) Apr. 214(2):865-878.
doi: 10.1111/nph.14413
Bohm J. et al.
ORAI1 mutations with distinct channel gating defects in tubular aggregate myopathy.
Human Mutation (2017).Mar. 38 (4): 426-438
doi: 10.1002/humu.23172
Lornage X. et al.
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
Ann Neurol. 2017 Mar. 81(3):467-473.
doi: 10.1002/ana.24900
Arandel L. et al.
Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds.
Disease Models Mechanisms (2017) Feb. 10: 487-497.
doi: 10.1242/dmm.027367
Mercier S. et al.
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A.
Neurology (2017) Jan. 88(4):414-416.
doi: 10.1212/WNL.0000000000003535
Neto OA. et al.
Nonlethal CHRNA1-related congenital Myasthenic Syndrome with a homozygous null mutation.
Canadian Journal of Neurological Sciences (2017) Jan. 44 (1):125-127
doi: 10.1017/cjn.2016.322
Monat C. et al.
De novo assemblies of three Oryza glaberrima accessions provide first insights about pan-genome of african rices.
Genome Biol Evol. (2017) Jan 1. 9(1):1-6.
doi: 10.1093/gbe/evw253
Biancalana V. et al.
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Acta Neuropathol. (2017) Dec. 134(6):889-904.
doi: 10.1007/s00401-017-1748-0
Abath Neto O. et al.
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
Neuromuscul Disord. (2017) Nov. 27(11):975-985.
doi: 10.1016/j.nmd.2017.05.016