Very late onset in ataxia oculomotor apraxia type I

被引：23

作者：

Criscuolo, C ^{[1
]}

Mancini, P

Menchise, V

Saccá, F

De Michele, G

Banfi, S

Filla, A

机构：

[1] Univ Naples Federico II, Dept Neurol Sci, Naples, Italy

[2] Telethon Inst Genet & Med, Naples, Italy

[3] CNR, Ist Biostrutture & Bioimmagini, I-80125 Naples, Italy

[4] Bioind Pk Canavese, Colleretto Giacosa, Italy

来源：

ANNALS OF NEUROLOGY | 2005年 / 57卷 / 05期

关键词：

D O I：

10.1002/ana.20463

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：777 / 777

页数：1

共 5 条

[1] Aprataxin gene mutations in Tunisian families [J].

Amouri, R ;

Moreira, MC ;

Zouari, M ;

El Euch, G ;

Barhoumi, C ;

Kefi, M ;

Belal, S ;

Koenig, M ;

Hentati, F .

NEUROLOGY, 2004, 63 (05) :928-929

[2] Ataxia with oculomotor apraxia type 1 in Southern Italy -: Late onset and variable phenotype [J].

Criscuolo, C ;

Mancini, P ;

Saccà, F ;

De Michele, G ;

Monticelli, A ;

Santoro, L ;

Scarano, V ;

Banfi, S ;

Filla, A .

NEUROLOGY, 2004, 63 (11) :2173-2175

[3] Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene [J].

Date, H ;

Onodera, O ;

Tanaka, H ;

Iwabuchi, K ;

Uekawa, K ;

Igarashi, S ;

Koike, R ;

Hiroi, T ;

Yuasa, T ;

Awaya, Y ;

Sakai, T ;

Takahashi, T ;

Nagatomo, H ;

Sekijima, Y ;

Kawachi, I ;

Takiyama, Y ;

Nishizawa, M ;

Fukuhara, N ;

Saito, K ;

Sugano, S ;

Tsuji, S .

NATURE GENETICS, 2001, 29 (02) :184-188

[4]

Fischer D, 1999, PROTEINS, P209

[5] The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin [J].

Moreira, MC ;

Barbot, C ;

Tachi, N ;

Kozuka, N ;

Uchida, E ;

Gibson, T ;

Mendonça, P ;

Costa, M ;

Barros, J ;

Yanagisawa, T ;

Watanabe, M ;

Ikeda, Y ;

Aoki, M ;

Nagata, T ;

Coutinho, P ;

Sequeiros, J ;

Koenig, M .

NATURE GENETICS, 2001, 29 (02) :189-193

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