Works matching IS 13646745 AND DT 2019 AND VI 20 AND IP 2

Results: 8

Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556.

Published in:

Neurogenetics, 2019, v. 20, n. 2, p. 91, doi. 10.1007/s10048-019-00577-2

By:

Cauley, Edmund S.;
Hamed, Ahlam;
Mohamed, Inaam N.;
Elseed, Maha;
Martinez, Samantha;
Yahia, Ashraf;
Abozar, Fatima;
Abubakr, Rayan;
Koko, Mahmoud;
Elsayed, Liena;
Piao, Xianhua;
Salih, Mustafa A.;
Manzini, M. Chiara

Publication type:

Article

Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.

Published in:

Neurogenetics, 2019, v. 20, n. 2, p. 57, doi. 10.1007/s10048-019-00575-4

By:

Zampatti, Stefania;
Colantoni, Luca;
Strafella, Claudia;
Galota, Rosaria Maria;
Caputo, Valerio;
Campoli, Giulia;
Pagliaroli, Giulia;
Carboni, Stefania;
Mela, Julia;
Peconi, Cristina;
Gambardella, Stefano;
Cascella, Raffaella;
Giardina, Emiliano

Publication type:

Article

Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.

Published in:

Neurogenetics, 2019, v. 20, n. 2, p. 73, doi. 10.1007/s10048-019-00574-5

By:

Sánchez-Iglesias, Sofía;
Crocker, Melissa;
O'Callaghan, Mar;
Darling, Alejandra;
García-Cazorla, Angels;
Domingo-Jiménez, Rosario;
Castro, Ana;
Fernández-Pombo, Antía;
Ruibal, Álvaro;
Aguiar, Pablo;
Garrido-Pumar, Miguel;
Rodríguez-Núñez, Antonio;
Álvarez-Escudero, Julián;
Brown, Rebecca J.;
Araújo-Vilar, David

Publication type:

Article

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.

Published in:

Neurogenetics, 2019, v. 20, n. 2, p. 103, doi. 10.1007/s10048-019-00572-7

By:

Accogli, Andrea;
Russell, Laura;
Sébire, Guillaume;
Rivière, Jean-Baptiste;
St-Onge, Judith;
Addour-Boudrahem, Nassima;
Laporte, Alexandre Dionne;
Rouleau, Guy A.;
Saint-Martin, Christine;
Srour, Myriam

Publication type:

Article

Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures.

Published in:

Neurogenetics, 2019, v. 20, n. 2, p. 109, doi. 10.1007/s10048-019-00573-6

By:

Alsahli, Saud;
Alfares, Ahmed;
Guzmán-Vega, Francisco J.;
Arold, Stefan T.;
Ba-Armah, Duaa;
Al Mutairi, Fuad

Publication type:

Article

Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family.

Published in:

Neurogenetics, 2019, v. 20, n. 2, p. 99, doi. 10.1007/s10048-019-00571-8

By:

Ramos, Eliana Marisa;
Roca, Alessandro;
Chumchim, Noravit;
Dokuru, Deepika Reddy;
Van Berlo, Victoria;
De Michele, Giovanna;
Lieto, Maria;
Tedeschi, Enrico;
De Michele, Giuseppe;
Coppola, Giovanni

Publication type:

Article

Rs10230207 genotype confers changes in HDAC9 and TWIST1, but not FERD3L in lymphoblasts from patients with intracranial aneurysm.

Published in:

Neurogenetics, 2019, v. 20, n. 2, p. 83, doi. 10.1007/s10048-019-00569-2

By:

Lansdell, Theresa A.;
Fisher, Courtney;
Simmonds, Kent;
Reeves, Mat J.;
Woo, Daniel;
Dorrance, Anne M.;
Demel, Stacie L.

Publication type:

Article

Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations.

Published in:

Neurogenetics, 2019, v. 20, n. 2, p. 65, doi. 10.1007/s10048-019-00570-9

By:

Naruse, Hiroya;
Matsukawa, Takashi;
Ishiura, Hiroyuki;
Mitsui, Jun;
Takahashi, Yuji;
Takano, Hiroki;
Goto, Jun;
Toda, Tatsushi;
Tsuji, Shoji

Publication type:

Article