Grand Projet

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

Duyen T Bui et al.
Mismatch Repair Incompatibilities in Diverse Yeast Populations
Genetics 2017, vol. 205, issue 4
doi: 10.1534/genetics.116.199513

Stéphanie Bauché et al.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
The American Journal of Human Genetics 2016, vol. 99, issue 3
doi: 10.1016/j.ajhg.2016.06.033

Kilan Le Guennec et al.
ABCA7 rare variants and Alzheimer disease risk
Neurology 2016, vol. 86, issue 23
doi: 10.1212/wnl.0000000000002627

S Terrat et al.
Improving soil bacterial taxa–area relationships assessment using DNA meta-barcoding
Heredity 2014, vol. 114, issue 5
doi: 10.1038/hdy.2014.91

Sebastien Terrat et al.
Meta-barcoded evaluation of the ISO standard 11063 DNA extraction procedure to characterize soil bacterial and fungal community diversity and composition
Microbial Biotechnology 2014, vol. 8, issue 1
doi: 10.1111/1751-7915.12162

M. Legendre et al.
Thirty-thousand-year-old distant relative of giant icosahedral DNA viruses with a pandoravirus morphology
Proceedings of the National Academy of Sciences 2014, vol. 111, issue 11
doi: 10.1073/pnas.1320670111