Works matching IS 13646745 AND DT 2010 AND VI 11 AND IP 4

Results: 13

Acknowledgement to Referees 2009/2010.

Published in:: Neurogenetics, 2010, v. 11, n. 4, p. 471, doi. 10.1007/s10048-010-0262-5
Publication type:: Article

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.

Published in:

Neurogenetics, 2010, v. 11, n. 4, p. 457, doi. 10.1007/s10048-010-0251-8

By:

Bernard, Geneviève;
Thiffault, Isabelle;
Tetreault, Martine;
Putorti, Maria;
Bouchard, Isabelle;
Sylvain, Michel;
Melançon, Serge;
Laframboise, Rachel;
Langevin, Pierre;
Bouchard, Jean-Pierre;
Vanasse, Michel;
Vanderver, Adeline;
Sébire, Guillaume;
Brais, Bernard

Publication type:

Article

A new locus ( SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum.

Published in:

Neurogenetics, 2010, v. 11, n. 4, p. 441, doi. 10.1007/s10048-010-0249-2

By:

Boukhris, Amir;
Feki, Imed;
Elleuch, Nizar;
Miladi, Mohamed;
Boland-Augé, Anne;
Truchetto, Jérémy;
Mundwiller, Emeline;
Jezequel, Nadia;
Zelenika, Diana;
Mhiri, Chokri;
Brice, Alexis;
Stevanin, Giovanni

Publication type:

Article

Age at onset in Huntington's disease: replication study on the associations of ADORA2A, HAP1 and OGG1.

Published in:

Neurogenetics, 2010, v. 11, n. 4, p. 435, doi. 10.1007/s10048-010-0248-3

By:

Taherzadeh-Fard, Elahe;
Saft, Carsten;
Wieczorek, Stefan;
Epplen, Jörg;
Arning, Larissa

Publication type:

Article

Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred.

Published in:

Neurogenetics, 2010, v. 11, n. 4, p. 417, doi. 10.1007/s10048-010-0244-7

By:

Breedveld, Guido;
Fabbrini, Giovanni;
Oostra, Ben;
Berardelli, Alfredo;
Bonifati, Vincenzo

Publication type:

Article

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.

Published in:

Neurogenetics, 2010, v. 11, n. 4, p. 379, doi. 10.1007/s10048-010-0243-8

By:

Southgate, Laura;
Dafou, Dimitra;
Hoyle, Jacqueline;
Li, Nan;
Kinning, Esther;
Critchley, Peter;
Németh, Andrea;
Talbot, Kevin;
Bindu, Parayil;
Sinha, Sanjib;
Taly, Arun;
Raghavendra, Seetharam;
Müller, Ferenc;
Maher, Eamonn;
Trembath, Richard

Publication type:

Article

Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.

Published in:

Neurogenetics, 2010, v. 11, n. 4, p. 449, doi. 10.1007/s10048-010-0250-9

By:

Boyden, Steven;
Salih, Mustafa;
Duncan, Anna;
White, Alexander;
Estrella, Elicia;
Burgess, Stephanie;
Seidahmed, Mohammed;
Al-Jarallah, Abdullah;
Alkhalidi, Hisham;
Al-Maneea, Waleed;
Bennett, Richard;
Alshemmari, Salem;
Kunkel, Louis;
Kang, Peter

Publication type:

Article

Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons.

Published in:

Neurogenetics, 2010, v. 11, n. 4, p. 369, doi. 10.1007/s10048-010-0252-7

By:

Soderblom, Cynthia;
Stadler, Julia;
Jupille, Henri;
Blackstone, Craig;
Shupliakov, Oleg;
Hanna, Michael

Publication type:

Article

Myotonic dystrophy type I combined with X-linked dominant Charcot-Marie-Tooth neuropathy.

Published in:

Neurogenetics, 2010, v. 11, n. 4, p. 425, doi. 10.1007/s10048-010-0246-5

By:

Kim, Hyun;
Chung, Ki;
Kang, Sung;
Choi, Sung;
Cho, Sun;
Koo, Heasoo;
Kim, Sang-Beom;
Choi, Byung-Ok

Publication type:

Article

GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.

Published in:

Neurogenetics, 2010, v. 11, n. 4, p. 465, doi. 10.1007/s10048-010-0247-4

By:

Gonzaga-Jauregui, Claudia;
Zhang, Feng;
Towne, Charles;
Batish, Sat;
Lupski, James

Publication type:

Article

Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden.

Published in:

Neurogenetics, 2010, v. 11, n. 4, p. 391, doi. 10.1007/s10048-010-0240-y

By:

Thomas, Laura;
Kluwe, Lan;
Chuzhanova, Nadia;
Mautner, Victor;
Upadhyaya, Meena

Publication type:

Article

LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease.

Published in:

Neurogenetics, 2010, v. 11, n. 4, p. 401, doi. 10.1007/s10048-010-0241-x

By:

Vilariño-Güell, Carles;
Wider, Christian;
Ross, Owen;
Jasinska-Myga, Barbara;
Kachergus, Jennifer;
Cobb, Stephanie;
Soto-Ortolaza, Alexandra;
Behrouz, Bahareh;
Heckman, Michael;
Diehl, Nancy;
Testa, Claudia;
Wszolek, Zbigniew;
Uitti, Ryan;
Jankovic, Joseph;
Louis, Elan;
Clark, Lorraine;
Rajput, Alex;
Farrer, Matthew

Publication type:

Article

Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan.

Published in:

Neurogenetics, 2010, v. 11, n. 4, p. 409, doi. 10.1007/s10048-010-0245-6

By:

Sakai, Haruya;
Yoshida, Kunihiro;
Shimizu, Yusaku;
Morita, Hiroshi;
Ikeda, Shu-ichi;
Matsumoto, Naomichi

Publication type:

Article