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Publications 2017

Publié le 13 avril 2017

  
A family-based genome-wide association study reveals an association of spondyloarthritis with MAPK14
Costantino F, Talpin A, Said-Nahal R, Leboime A, Zinovieva E, Zelenika D, Gut I, Charon C, Izac B, Weissman M, Chiocchia G, Reveille J, Breban M, Garchon HJ
dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure
Dos Santos RS, Daures M, Philippi A, Romero S, Marselli L, Marchetti P, Senee V, Bacq D, Besse C, Baz B, Marroqui L, Ivanoff S, Masliah-Planchon J, Nicolino M, Soulier J, Socie G, Eizirik DL, Jean-Francois G, Julier C
Bdf1 Bromodomains Are Essential for Meiosis and the Expression of Meiotic-Specific Genes
Garcia-Oliver E, Ramus C, Perot J, Arlotto M, Champleboux M, Mietton F, Battail C, Boland A, Deleuze JF, Ferro M, Coute Y, Govin J
Epigenome-wide DNA methylation analysis in siblings and monozygotic twins discordant for sporadic Parkinson's disease revealed different epigenetic patterns in peripheral blood mononuclear cells
Kaut O, Schmitt I, Tost J, Busato F, Liu Y, Hofmann P, Witt SH, Rietschel M, Frohlich H, Wullner U
Early born neurons are abnormally positioned in the doublecortin knockout hippocampus
Khalaf-Nazzal R, Stouffer MA, Olaso R, Muresan L, Roumegous A, Lavilla V, Carpentier W, Moutkine I, Dumont S, Albaud B, Cagnard N, Crollius HR, Francis F
Recessive MYPN Mutations Cause Cap Myopathy with Occasional Nemaline Rods
Lornage X, Malfatti E, Cheraud C, Schneider R, Biancalana V, Cuisset JM, Garibaldi M, Eymard B, Fardeau M, Boland A, Deleuze JF, Thompson J, Carlier RY, Bohm J, Romero NB, Laporte J
Ann. Neurol. 81 (3), 467-473, 2017
EXPANDING THE SPECTRUM OF CONGENITAL MYOPATHY LINKED TO RECESSIVE MUTATIONS IN SCN4A
Mercier S, Lornage X, Malfatti E, Marcorelles P, Letournel F, Boscher C, Caillaux G, Magot A, Boham J, Boland A, Deleuze JF, Romero N, Pereon Y, Laporte J
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation
Neto OA, Heise CO, Moreno CDM, Estephan ED, Mesrob L, Lechner D, Boland A, Deleuze JF, Oliveira ASB, Reed UC, Biancalana V, Laporte J, Zanoteli E
Can. J. Neurol. Sci. 44 (1), 125-127, 2017
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Neto OA, Brochier G, Lornage X, Eymard B, Taratuto AL, Bohm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bonnemann CG, Laporte J
Comparison of the quantification of KRAS mutations by digital PCR and E-ice-COLD-PCR in circulating-cell-free DNA from metastatic colorectal cancer patients
Sefrioui D, Mauger F, Leclere L, Beaussire L, Di Fiore F, Deleuze JF, Sarafan-Vasseur N, Tost J
Toward dynamic informed consent
Stoekle HC, Deleuze JF, Vogt G, Herve C