CNRGH

Nicolas G. et al.
CNR-MAJ collaborators. SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease
Mol Psychiatry. (2016) 21(6):831-6
doi: 10.1038/mp.2015.121

Gargaun E. et al.
EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome
J Neurol. (2016) 263(7):1456-8
doi: 10.1007/s00415-016-8153-9

Colin E. et al.
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
Am J Hum Genet. (2016) 99(3):695-703
doi: 10.1016/j.ajhg.2016.06.030

O'Grady GL. et al.
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
Am J Hum Genet. (2016) .99(5):1086-1105
doi: 10.1016/j.ajhg.2016.09.005

Troudet R. et al.
RNA signature and prediction to treatment response in first episode schizophrenia.
European Neuropsychopharm. (2017) Oct. 27: S597-S597.
doi: 10.1016/S0924-977X(17)31139-2

Saultier P. et al.
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.
Haematologica (2017) Jun. 102(6):1006-1016.
doi: 10.3324/haematol.2016.153577

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

Ivanova ELet al.
Homozygous truncating variants in TBC1D23 cause Pontocerebellar Hypoplasia and alter cortical development.
Am J Hum Genet. (2017) Sep. 101(3):428-440.
doi: 10.1016/j.ajhg.2017.07.010

Scelo G. et al.
Genome-wide association study identifies multiple risk loci for renal cell carcinoma.
Nat Commun. (2017) Jun. 8:15724.
doi: 10.1038/ncomms15724

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