Works matching IS 13646745 AND DT 2013 AND VI 14 AND IP 2

Results: 9

Peripheral blood gene expression signature differentiates children with autism from unaffected siblings.

Published in:

Neurogenetics, 2013, v. 14, n. 2, p. 143, doi. 10.1007/s10048-013-0363-z

By:

Kong, S.;
Shimizu-Motohashi, Y.;
Campbell, M.;
Lee, I.;
Collins, C.;
Brewster, S.;
Holm, I.;
Rappaport, L.;
Kohane, I.;
Kunkel, L.

Publication type:

Article

Natural history of neurofibromatosis type 2 with onset before the age of 1 year.

Published in:

Neurogenetics, 2013, v. 14, n. 2, p. 89, doi. 10.1007/s10048-013-0354-0

By:

Ruggieri, Martino;
Gabriele, Anna;
Polizzi, Agata;
Salpietro, Vincenzo;
Nicita, Francesco;
Pavone, Piero;
Platania, Nunzio;
Milone, Pietro;
Distefano, Angela;
Privitera, Giuseppe;
Belfiore, Giuseppe;
Granata, Francesca;
Caltabiano, Rosario;
Albanese, Vincenzo;
Pavone, Lorenzo;
Quattrone, Aldo

Publication type:

Article

Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.

Published in:

Neurogenetics, 2013, v. 14, n. 2, p. 113, doi. 10.1007/s10048-013-0359-8

By:

Tiffin, Heather;
Jenkins, Zandra;
Gray, Mary;
Cameron-Christie, Sophia;
Eaton, Jennifer;
Aftimos, Salim;
Markie, David;
Robertson, Stephen

Publication type:

Article

Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.

Published in:

Neurogenetics, 2013, v. 14, n. 2, p. 123, doi. 10.1007/s10048-013-0358-9

By:

Auranen, Mari;
Ylikallio, Emil;
Toppila, Jussi;
Somer, Mirja;
Kiuru-Enari, Sari;
Tyynismaa, Henna

Publication type:

Article

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.

Published in:

Neurogenetics, 2013, v. 14, n. 2, p. 153, doi. 10.1007/s10048-013-0361-1

By:

Nogueira, Célia;
Barros, José;
Sá, Maria;
Azevedo, Luísa;
Taipa, Ricardo;
Torraco, Alessandra;
Meschini, Maria;
Verrigni, Daniela;
Nesti, Claudia;
Rizza, Teresa;
Teixeira, João;
Carrozzo, Rosalba;
Pires, Manuel;
Vilarinho, Laura;
Santorelli, Filippo

Publication type:

Article

The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms.

Published in:

Neurogenetics, 2013, v. 14, n. 2, p. 161, doi. 10.1007/s10048-013-0360-2

By:

Cannas, Antonino;
Borghero, Giuseppe;
Floris, Gian;
Solla, Paolo;
Chiò, Adriano;
Traynor, Bryan;
Calvo, Andrea;
Restagno, Gabriella;
Majounie, Elisa;
Costantino, Emanuela;
Piras, Valeria;
Lavra, Loredana;
Pani, Carla;
Orofino, Gianni;
Stefano, Francesca;
Tacconi, Paolo;
Mascia, Marcello;
Muroni, Antonella;
Murru, Maria;
Tranquilli, Stefania

Publication type:

Article

Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism.

Published in:

2013

By:

Kawarai, Toshitaka;
Pasco, Paul;
Teleg, Rosalia;
Kamada, Masaki;
Sakai, Waka;
Shimozono, Komei;
Mizuguchi, Makoto;
Tabuena, Daisy;
Orlacchio, Antonio;
Izumi, Yuishin;
Goto, Satoshi;
Lee, Lillian;
Kaji, Ryuji

Publication type:

Letter

CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.

Published in:

Neurogenetics, 2013, v. 14, n. 2, p. 133, doi. 10.1007/s10048-013-0362-0

By:

Riant, Florence;
Cecillon, Michaelle;
Saugier-Veber, Pascale;
Tournier-Lasserve, Elisabeth

Publication type:

Article

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.

Published in:

Neurogenetics, 2013, v. 14, n. 2, p. 99, doi. 10.1007/s10048-013-0356-y

By:

Paciorkowski, Alex;
Traylor, Ryan;
Rosenfeld, Jill;
Hoover, Jacqueline;
Harris, Catharine;
Winter, Susan;
Lacassie, Yves;
Bialer, Martin;
Lamb, Allen;
Schultz, Roger;
Berry-Kravis, Elizabeth;
Porter, Brenda;
Falk, Marni;
Venkat, Anu;
Vanzo, Rena;
Cohen, Julie;
Fatemi, Ali;
Dobyns, William;
Shaffer, Lisa;
Ballif, Blake

Publication type:

Article