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Items: 8

1.

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.

Nava C, Rupp J, Boissel JP, Mignot C, Rastetter A, Amiet C, Jacquette A, Dupuits C, Bouteiller D, Keren B, Ruberg M, Faudet A, Doummar D, Philippe A, Périsse D, Laurent C, Lebrun N, Guillemot V, Chelly J, Cohen D, Héron D, Brice A, Closs EI, Depienne C.

Amino Acids. 2015 Dec;47(12):2647-58. doi: 10.1007/s00726-015-2057-3. Epub 2015 Jul 28.

2.

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study.

Depienne C, Bugiani M, Dupuits C, Galanaud D, Touitou V, Postma N, van Berkel C, Polder E, Tollard E, Darios F, Brice A, de Die-Smulders CE, Vles JS, Vanderver A, Uziel G, Yalcinkaya C, Frints SG, Kalscheuer VM, Klooster J, Kamermans M, Abbink TE, Wolf NI, Sedel F, van der Knaap MS.

Lancet Neurol. 2013 Jul;12(7):659-68. doi: 10.1016/S1474-4422(13)70053-X. Epub 2013 May 22.

3.

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

Guerreiro R, Kara E, Le Ber I, Bras J, Rohrer JD, Taipa R, Lashley T, Dupuits C, Gurunlian N, Mochel F, Warren JD, Hannequin D, Sedel F, Depienne C, Camuzat A, Golfier V, Du Boisguéheneuc F, Schottlaender L, Fox NC, Beck J, Mead S, Rossor MN, Hardy J, Revesz T, Brice A, Houlden H.

JAMA Neurol. 2013 Jul;70(7):875-882. doi: 10.1001/jamaneurol.2013.698.

4.

Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency.

Pérez-Dueñas B, Serrano M, Rebollo M, Muchart J, Gargallo E, Dupuits C, Artuch R.

Pediatrics. 2013 May;131(5):e1670-5. doi: 10.1542/peds.2012-2988. Epub 2013 Apr 15.

PMID:
23589815
5.

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.

Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C.

Transl Psychiatry. 2012 Oct 23;2:e179. doi: 10.1038/tp.2012.102.

6.

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.

Lesage S, Anheim M, Condroyer C, Pollak P, Durif F, Dupuits C, Viallet F, Lohmann E, Corvol JC, Honoré A, Rivaud S, Vidailhet M, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group.

Hum Mol Genet. 2011 Jan 1;20(1):202-10. doi: 10.1093/hmg/ddq454. Epub 2010 Oct 14.

PMID:
20947659
7.

Phylogeographic evidence of crop neodiversity in sorghum.

de Alencar Figueiredo LF, Calatayud C, Dupuits C, Billot C, Rami JF, Brunel D, Perrier X, Courtois B, Deu M, Glaszmann JC.

Genetics. 2008 Jun;179(2):997-1008. doi: 10.1534/genetics.108.087312.

8.

FT genome A and D polymorphisms are associated with the variation of earliness components in hexaploid wheat.

Bonnin I, Rousset M, Madur D, Sourdille P, Dupuits C, Brunel D, Goldringer I.

Theor Appl Genet. 2008 Feb;116(3):383-94. Epub 2007 Nov 27.

PMID:
18040656

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