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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
Published in:
2016
By:
- Megahed, Hisham;
- Nicouleau, Michaël;
- Barcia, Giulia;
- Medina-Cano, Daniel;
- Siquier-Pernet, Karine;
- Bole-Feysot, Christine;
- Parisot, Mélanie;
- Masson, Cécile;
- Nitschké, Patrick;
- Rio, Marlène;
- Bahi-Buisson, Nadia;
- Desguerre, Isabelle;
- Munnich, Arnold;
- Boddaert, Nathalie;
- Colleaux, Laurence;
- Cantagrel, Vincent
Publication type:
journal article
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Published in:
2018
By:
- Chemin, Jean;
- Siquier-Pernet, Karine;
- Nicouleau, Michaël;
- Barcia, Giulia;
- Ahmad, Ali;
- Medina-Cano, Daniel;
- Hanein, Sylvain;
- Altin, Nami;
- Hubert, Laurence;
- Bole-Feysot, Christine;
- Fourage, Cécile;
- Nitschké, Patrick;
- Thevenon, Julien;
- Rio, Marlène;
- Blanc, Pierre;
- vidal, Céline;
- Bahi-Buisson, Nadia;
- Desguerre, Isabelle;
- Munnich, Arnold;
- Lyonnet, Stanislas
Publication type:
journal article
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Published in:
2017
By:
- Cavallin, Mara;
- Rujano, Maria A.;
- Bednarek, Nathalie;
- Medina-Cano, Daniel;
- Bernabe Gelot, Antoinette;
- Drunat, Severine;
- Maillard, Camille;
- Garfa-Traore, Meriem;
- Bole, Christine;
- Nitschké, Patrick;
- Beneteau, Claire;
- Besnard, Thomas;
- Cogné, Benjamin;
- Eveillard, Marion;
- Kuster, Alice;
- Poirier, Karine;
- Verloes, Alain;
- Martinovic, Jelena;
- Bidat, Laurent;
- Rio, Marlene
Publication type:
journal article
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-19919-y
By:
- Ucuncu, Ekin;
- Rajamani, Karthyayani;
- Wilson, Miranda S. C.;
- Medina-Cano, Daniel;
- Altin, Nami;
- David, Pierre;
- Barcia, Giulia;
- Lefort, Nathalie;
- Banal, Céline;
- Vasilache-Dangles, Marie-Thérèse;
- Pitelet, Gaële;
- Lorino, Elsa;
- Rabasse, Nathalie;
- Bieth, Eric;
- Zaki, Maha S.;
- Topcu, Meral;
- Sonmez, Fatma Mujgan;
- Musaev, Damir;
- Stanley, Valentina;
- Bole-Feysot, Christine
Publication type:
Article

Found: 4

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.