Works matching AU Durand, Christelle M.

Results: 7

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.

Published in:

Nature Genetics, 2007, v. 39, n. 1, p. 25, doi. 10.1038/ng1933

By:

Durand, Christelle M;
Betancur, Catalina;
Boeckers, Tobias M;
Bockmann, Juergen;
Chaste, Pauline;
Fauchereau, Fabien;
Nygren, Gudrun;
Rastam, Maria;
Gillberg, I Carina;
Anckarsäter, Henrik;
Sponheim, Eili;
Goubran-Botros, Hany;
Delorme, Richard;
Chabane, Nadia;
Mouren-Simeoni, Marie-Christine;
de Mas, Philippe;
Bieth, Eric;
Rogé, Bernadette;
Héron, Delphine;
Burglen, Lydie

Publication type:

Article

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments.

Published in:

PLoS Genetics, 2014, v. 10, n. 9, p. 1, doi. 10.1371/journal.pgen.1004580

By:

Leblond, Claire S.;
Nava, Caroline;
Polge, Anne;
Gauthier, Julie;
Huguet, Guillaume;
Lumbroso, Serge;
Giuliano, Fabienne;
Stordeur, Coline;
Depienne, Christel;
Mouzat, Kevin;
Pinto, Dalila;
Howe, Jennifer;
Lemière, Nathalie;
Durand, Christelle M.;
Guibert, Jessica;
Ey, Elodie;
Toro, Roberto;
Peyre, Hugo;
Mathieu, Alexandre;
Amsellem, Frédérique

Publication type:

Article

The Planar Polarity Protein Scribble1 Is Essential for Neuronal Plasticity and Brain Function.

Published in:

Journal of Neuroscience, 2010, v. 30, n. 29, p. 9738, doi. 10.1523/JNEUROSCI.6007-09.2010

By:

Moreau, Maïté M.;
Piguel, Nicolas;
Papouin, Thomas;
Koehl, Muriel;
Durand, Christelle M.;
Rubio, Maria E.;
Loll, François;
Richard, Elodie M.;
Mazzocco, Claire;
Racca, Claudia;
Oliet, Stéphane H. R.;
Abrous, D. Nora;
Montcouquiol, Mireille;
Sans, Nathalie

Publication type:

Article

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Published in:

2015

By:

Pilliod, Julie;
Moutton, Sébastien;
Lavie, Julie;
Maurat, Elise;
Hubert, Christophe;
Bellance, Nadège;
Anheim, Mathieu;
Forlani, Sylvie;
Mochel, Fanny;
N'Guyen, Karine;
Thauvin‐Robinet, Christel;
Verny, Christophe;
Milea, Dan;
Lesca, Gaëtan;
Koenig, Michel;
Rodriguez, Diana;
Houcinat, Nada;
Van‐Gils, Julien;
Durand, Christelle M.;
Guichet, Agnès

Publication type:

journal article

Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia.

Published in:

2022

By:

Durand, Christelle M.;
Angelini, Chloé;
Michaud, Vincent;
Delleci, Claire;
Coupry, Isabelle;
Goizet, Cyril;
Trimouille, Aurelien

Publication type:

journal article

An investigation of ribosomal protein L10 gene in autism spectrum disorders.

Published in:

BMC Medical Genetics, 2009, v. 10, p. 1, doi. 10.1186/1471-2350-10-7

By:

Xiaohong Gong;
Delorme, Richard;
Fauchereau, Fabien;
Durand, Christelle M.;
Chaste, Pauline;
Betancur, Catalina;
Goubran-Botros, Hany;
Nygren, Gudrun;
Anckarsäter, Henrik;
Rastam, Maria;
Gillberg, I. Carina;
Kopp, Svenny;
Mouren-Simeoni, Marie-Christine;
Gillberg, Christopher;
Leboyer, Marion;
Bourgeron, Thomas

Publication type:

Article

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

Published in:

Human Mutation, 2018, v. 39, n. 1, p. 140, doi. 10.1002/humu.23359

By:

Durand, Christelle M.;
Dhers, Laura;
Tesson, Christelle;
Tessa, Alessandra;
Fouillen, Laetitia;
Jacqueré, Stéphanie;
Raymond, Laure;
Coupry, Isabelle;
Benard, Giovanni;
Darios, Frédéric;
El‐ Hachimi, Khalid H.;
Astrea, Guja;
Rivier, François;
Banneau, Guillaume;
Pujol, Claire;
Lacombe, Didier;
Durr, Alexandra;
Babin, Patrick J.;
Santorelli, Filippo M.;
Pietrancosta, Nicolas

Publication type:

Article