Works matching IS 13646745 AND DT 2016 AND VI 17 AND IP 1

Results: 11

Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.

Published in:

Neurogenetics, 2016, v. 17, n. 1, p. 17, doi. 10.1007/s10048-015-0462-0

By:

Micheal, Shazia;
Siddiqui, Sorath;
Zafar, Saemah;
Venselaar, Hanka;
Qamar, Raheel;
Khan, Muhammad;
den Hollander, Anneke

Publication type:

Article

Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.

Published in:

Neurogenetics, 2016, v. 17, n. 1, p. 65, doi. 10.1007/s10048-015-0465-x

By:

Cao, Michelangelo;
Donà, Marta;
Valentino, Lucia;
Semplicini, Claudio;
Maresca, Alessandra;
Cassina, Matteo;
Torraco, Alessandra;
Galletta, Eva;
Manfioli, Valeria;
Sorarù, Gianni;
Carelli, Valerio;
Stramare, Roberto;
Bertini, Enrico;
Carozzo, Rosalba;
Salviati, Leonardo;
Pegoraro, Elena

Publication type:

Article

COMT Val Met polymorphism is associated with nonverbal cognition following mild traumatic brain injury.

Published in:

Neurogenetics, 2016, v. 17, n. 1, p. 31, doi. 10.1007/s10048-015-0467-8

By:

Winkler, Ethan;
Yue, John;
McAllister, Thomas;
Temkin, Nancy;
Oh, Sam;
Burchard, Esteban;
Hu, Donglei;
Ferguson, Adam;
Lingsma, Hester;
Burke, John;
Sorani, Marco;
Rosand, Jonathan;
Yuh, Esther;
Barber, Jason;
Tarapore, Phiroz;
Gardner, Raquel;
Sharma, Sourabh;
Satris, Gabriela;
Eng, Celeste;
Puccio, Ava

Publication type:

Article

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.

Published in:

2016

By:

Cavallin, Mara;
Hubert, Laurence;
Cantagrel, Vincent;
Munnich, Arnold;
Boddaert, Nathalie;
Vincent-Delorme, Catherine;
Cuvellier, Jean;
Masson, Cecile;
Besmond, Claude;
Bahi-Buisson, Nadia

Publication type:

Letter

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.

Published in:

Neurogenetics, 2016, v. 17, n. 1, p. 11, doi. 10.1007/s10048-015-0460-2

By:

Brownstein, Catherine;
Beggs, Alan;
Rodan, Lance;
Shi, Jiahai;
Towne, Meghan;
Pelletier, Renee;
Cao, Siqi;
Rosenberg, Paul;
Urion, David;
Picker, Jonathan;
Tan, Wen-Hann;
Agrawal, Pankaj

Publication type:

Article

Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood.

Published in:

Neurogenetics, 2016, v. 17, n. 1, p. 57, doi. 10.1007/s10048-015-0461-1

By:

Kirshenbaum, Greer;
Dachtler, James;
Roder, John;
Clapcote, Steven

Publication type:

Article

Disruptions in a cluster of computationally identified enhancers near FOXC1 and GMDS may influence brain development.

Published in:

Neurogenetics, 2016, v. 17, n. 1, p. 1, doi. 10.1007/s10048-015-0458-9

By:

Haliburton, Genevieve;
McKinsey, Gabriel;
Pollard, Katherine

Publication type:

Article

First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.

Published in:

Neurogenetics, 2016, v. 17, n. 1, p. 51, doi. 10.1007/s10048-015-0463-z

By:

Rodríguez-García, María;
Martín-Hernández, Elena;
Aragón, Ana;
García-Silva, María;
Quijada-Fraile, Pilar;
Arenas, Joaquín;
Martín, Miguel;
Martínez-Azorín, Francisco

Publication type:

Article

Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization.

Published in:

Neurogenetics, 2016, v. 17, n. 1, p. 25, doi. 10.1007/s10048-015-0464-y

By:

Edvardson, Simon;
Wang, Haibo;
Dor, Talya;
Atawneh, Osamah;
Yaacov, Barak;
Gartner, Jutta;
Cinnamon, Yuval;
Chen, Songhai;
Elpeleg, Orly

Publication type:

Article

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.

Published in:

Neurogenetics, 2016, v. 17, n. 1, p. 43, doi. 10.1007/s10048-015-0466-9

By:

Shang, Linshan;
Henderson, Lindsay;
Cho, Megan;
Petrey, Donald;
Fong, Chin-To;
Haude, Katrina;
Shur, Natasha;
Lundberg, Julie;
Hauser, Natalie;
Carmichael, Jason;
Innis, Jeffrey;
Schuette, Jane;
Wu, Yvonne;
Asaikar, Shailesh;
Pearson, Margaret;
Folk, Leandra;
Retterer, Kyle;
Monaghan, Kristin;
Chung, Wendy

Publication type:

Article

Refining the phenotype associated with CASC5 mutation.

Published in:

Neurogenetics, 2016, v. 17, n. 1, p. 71, doi. 10.1007/s10048-015-0468-7

By:

Saadi, Abdelkrim;
Verny, Florine;
Siquier-Pernet, Karine;
Bole-Feysot, Christine;
Nitschke, Patrick;
Munnich, Arnold;
Abada-Dendib, Myriam;
Chaouch, Malika;
Abramowicz, Marc;
Colleaux, Laurence

Publication type:

Article