Grand Projet
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
Fragoso CA. et al.
Genetic architecture of a rice nested association mapping population.
G3 (2017) Jun. 7(6):1913-1926.
doi: 10.1534/g3.117.041608
Dos Santos RS. et al.
dUTPase (DUT) is mutated in a novel monogenic syndrome with diabetes and bone marrow failure.
Diabetes (2017) Apr. 66(4):1086-1096.
doi: 10.2337/db16-0839
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