Grand Projet
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
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
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
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
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
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
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
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
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
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