Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2

被引：44

作者：

Fogel, Brent L.

Perlman, Susan

机构：

[1] Univ Calif Los Angeles, Dept Neurol, Med Ctr, Los Angeles, CA 90095 USA

[2] Univ Calif Los Angeles, Ataxia Ctr, Los Angeles, CA USA

来源：

NEUROLOGY | 2006年 / 67卷 / 11期

关键词：

D O I：

10.1212/01.wnl.0000247661.19601.28

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：2083 / 2084

页数：2

共 7 条

[1] Autosomal recessive ataxia with peripheral neuropathy and elevated AFP:: Novel mutations in SETX [J].

Asaka, T ;

Yokoji, H ;

Ito, J ;

Yamaguchi, K ;

Matsushima, A .

NEUROLOGY, 2006, 66 (10) :1580-1581

[2] Senataxin, the yeast Sen1p orthologue: Characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease [J].

Chen, Ying-Zhang ;

Hashemi, Sayed H. ;

Anderson, Susan K. ;

Huang, Yongzhao ;

Moreira, Maria-Ceu ;

Lynch, David R. ;

Glass, Ian A. ;

Chance, Phillip F. ;

Bennett, Craig L. .

NEUROBIOLOGY OF DISEASE, 2006, 23 (01) :97-108

[3] DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4) [J].

Chen, YZ ;

Bennett, CL ;

Huynh, HM ;

Blair, IP ;

Puls, I ;

Irobi, J ;

Dierick, I ;

Abel, A ;

Kennerson, ML ;

Rabin, BA ;

Nicholson, GA ;

Auer-Grumbach, M ;

Wagner, K ;

De Jonghe, P ;

Griffin, JW ;

Fischbeck, KH ;

Timmerman, V ;

Cornblath, DR ;

Chance, PF .

AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (06) :1128-1135

[4] Ataxia with oculomotor apraxia type 2 -: A clinical, pathologic, and genetic study [J].

Criscuolo, C ;

Chessa, L ;

Di Giandomenico, S ;

Mancini, P ;

Saccá, F ;

Grieco, GS ;

Piane, M ;

Barbieri, F ;

De Michele, G ;

Banfi, S ;

Pierelli, F ;

Rizzuto, N ;

Santorelli, FM ;

Gallosti, L ;

Filla, A ;

Casali, C .

NEUROLOGY, 2006, 66 (08) :1207-1210

[5] Mutations in senataxin responsible for Quebec cluster of atria with neuropathy [J].

Duquette, A ;

Roddier, K ;

McNabb-Baltar, J ;

Gosselin, I ;

St-Denis, A ;

Dicaire, MJ ;

Loisel, L ;

Labuda, D ;

Marchand, L ;

Mathieu, J ;

Bouchard, JP ;

Brais, B .

ANNALS OF NEUROLOGY, 2005, 57 (03) :408-414

[6] Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2:: a clinical and genetic study in 18 patients [J].

Le Ber, I ;

Bouslam, N ;

Rivaud-Péchoux, S ;

Guimaraes, J ;

Benomar, A ;

Chamayou, C ;

Goizet, C ;

Moreira, MC ;

Klur, S ;

Yahyaoui, M ;

Agid, Y ;

Koenig, M ;

Stevanin, G ;

Brice, A ;

Dürr, A .

BRAIN, 2004, 127 :759-767

[7] Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 [J].

Moreira, MC ;

Klur, S ;

Watanabe, M ;

Németh, AH ;

Le Ber, I ;

Moniz, JC ;

Tranchant, C ;

Aubourg, P ;

Tazir, M ;

Schöls, L ;

Pandolfo, M ;

Schulz, JB ;

Pouget, J ;

Calvas, P ;

Shizuka-Ikeda, M ;

Shoji, M ;

Tanaka, M ;

Izatt, L ;

Shaw, CE ;

M'Zahem, A ;

Dunne, E ;

Bomont, P ;

Benhassine, T ;

Bouslam, N ;

Stevanin, G ;

Brice, A ;

Guimaraes, J ;

Mendonça, P ;

Barbot, C ;

Coutinho, P ;

Sequeiros, J ;

Dürr, A ;

Warter, JM ;

Koenig, M .

NATURE GENETICS, 2004, 36 (03) :225-227

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