Grand Projet

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

Terrat S. et al.
Mapping and predictive variations of soil bacterial richness across France.
PLoS One (2017) Oct. 12(10):e0186766.
doi: 10.1371/journal.pone.0186766

Bellenguez C. et al.
Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls.
Neurobiol. Aging (2017) Jul. pii: S0197-4580(17)30232-4.
doi: 10.1016/j.neurobiolaging.2017.07.001

Echaniz-Laguna A. et al.
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
Acta Neuropathol. (2017) Jul.134(1):163-165.
doi: 10.1007/s00401-017-1724-8