Works matching IS 13646745 AND DT 2012 AND VI 13 AND IP 4

Results: 9

Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.

Published in:

Neurogenetics, 2012, v. 13, n. 4, p. 333, doi. 10.1007/s10048-012-0340-y

By:

Nagamani, Sandesh;
Erez, Ayelet;
Probst, Frank;
Bader, Patricia;
Evans, Patricia;
Baker, Linda;
Fang, Ping;
Bertin, Terry;
Hixson, Patricia;
Stankiewicz, Pawel;
Nelson, David;
Patel, Ankita;
Cheung, Sau

Publication type:

Article

C3KO mouse expression analysis: downregulation of the muscular dystrophy Ky protein and alterations in muscle aging.

Published in:

Neurogenetics, 2012, v. 13, n. 4, p. 347, doi. 10.1007/s10048-012-0336-7

By:

Jaka, Oihane;
Kramerova, Irina;
Azpitarte, Margarita;
López de Munain, Adolfo;
Spencer, Melissa;
Sáenz, Amets

Publication type:

Article

Mosaic DCX deletion causes subcortical band heterotopia in males.

Published in:

Neurogenetics, 2012, v. 13, n. 4, p. 367, doi. 10.1007/s10048-012-0339-4

By:

Quélin, Chloé;
Saillour, Yoann;
Souville, Isabelle;
Poirier, Karine;
N'Guyen-Morel, Marie;
Vercueil, Laurent;
Millisher-Bellaiche, Anne;
Boddaert, Nathalie;
Dubois, Fanny;
Chelly, Jamel;
Beldjord, Cherif;
Bahi-Buisson, Nadia

Publication type:

Article

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.

Published in:

Neurogenetics, 2012, v. 13, n. 4, p. 327, doi. 10.1007/s10048-012-0337-6

By:

Tsurusaki, Yoshinori;
Saitoh, Shinji;
Tomizawa, Kazuhiro;
Sudo, Akira;
Asahina, Naoko;
Shiraishi, Hideaki;
Ito, Jun-ichi;
Tanaka, Hajime;
Doi, Hiroshi;
Saitsu, Hirotomo;
Miyake, Noriko;
Matsumoto, Naomichi

Publication type:

Article

Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.

Published in:

Neurogenetics, 2012, v. 13, n. 4, p. 359, doi. 10.1007/s10048-012-0338-5

By:

Tokunaga, Shoko;
Hashiguchi, Akihiro;
Yoshimura, Akiko;
Maeda, Kengo;
Suzuki, Takashi;
Haruki, Hiroyo;
Nakamura, Tomonori;
Okamoto, Yuji;
Takashima, Hiroshi

Publication type:

Article

Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.

Published in:

Neurogenetics, 2012, v. 13, n. 4, p. 341, doi. 10.1007/s10048-012-0342-9

By:

Terracciano, A.;
Specchio, N.;
Darra, F.;
Sferra, A.;
Bernardina, B.;
Vigevano, F.;
Bertini, E.

Publication type:

Article

Mammalian sleep genetics.

Published in:

Neurogenetics, 2012, v. 13, n. 4, p. 287, doi. 10.1007/s10048-012-0341-x

By:

Kelly, Jessica;
Bianchi, Matt

Publication type:

Article

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.

Published in:

Neurogenetics, 2012, v. 13, n. 4, p. 375, doi. 10.1007/s10048-012-0343-8

By:

Torraco, Alessandra;
Verrigni, Daniela;
Rizza, Teresa;
Meschini, Maria;
Vazquez-Memije, Martha;
Martinelli, Diego;
Bianchi, Marzia;
Piemonte, Fiorella;
Dionisi-Vici, Carlo;
Santorelli, Filippo;
Bertini, Enrico;
Carrozzo, Rosalba

Publication type:

Article

Acknowledgement to Referees 2011/2012.

Published in:: Neurogenetics, 2012, v. 13, n. 4, p. 387, doi. 10.1007/s10048-012-0345-6
Publication type:: Article