133 related articles for article (PubMed ID: 15276230)
1. Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Hirano M; Nishiwaki T; Kariya S; Furiya Y; Kawahara M; Ueno S
Neurosci Lett; 2004 Aug; 366(2):120-5. PubMed ID: 15276230
[TBL] [Abstract][Full Text] [Related]
2. Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein.
Sano Y; Date H; Igarashi S; Onodera O; Oyake M; Takahashi T; Hayashi S; Morimatsu M; Takahashi H; Makifuchi T; Fukuhara N; Tsuji S
Ann Neurol; 2004 Feb; 55(2):241-9. PubMed ID: 14755728
[TBL] [Abstract][Full Text] [Related]
3. Purkinje cell loss in the cerebellar flocculus in patients with ataxia with ocular motor apraxia type 1/early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Sugawara M; Wada C; Okawa S; Kobayashi M; Sageshima M; Imota T; Toyoshima I
Eur Neurol; 2008; 59(1-2):18-23. PubMed ID: 17917453
[TBL] [Abstract][Full Text] [Related]
4. Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.
Yokoseki A; Ishihara T; Koyama A; Shiga A; Yamada M; Suzuki C; Sekijima Y; Maruta K; Tsuchiya M; Date H; Sato T; Tada M; Ikeuchi T; Tsuji S; Nishizawa M; Onodera O
Brain; 2011 May; 134(Pt 5):1387-99. PubMed ID: 21486904
[TBL] [Abstract][Full Text] [Related]
5. Early-onset ataxia with oculomotor apraxia with a novel APTX mutation.
Ito A; Yamagata T; Mori M; Momoi MY
Pediatr Neurol; 2005 Jul; 33(1):53-6. PubMed ID: 15876520
[TBL] [Abstract][Full Text] [Related]
6. Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation.
Sekijima Y; Hashimoto T; Onodera O; Date H; Okano T; Naito K; Tsuji S; Ikeda S
Mov Disord; 2003 Oct; 18(10):1198-200. PubMed ID: 14534929
[TBL] [Abstract][Full Text] [Related]
7. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.
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
Nat Genet; 2001 Oct; 29(2):189-93. PubMed ID: 11586300
[TBL] [Abstract][Full Text] [Related]
8. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.
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
Nat Genet; 2001 Oct; 29(2):184-8. PubMed ID: 11586299
[TBL] [Abstract][Full Text] [Related]
9. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
Le Ber I; Moreira MC; Rivaud-Péchoux S; Chamayou C; Ochsner F; Kuntzer T; Tardieu M; Saïd G; Habert MO; Demarquay G; Tannier C; Beis JM; Brice A; Koenig M; Dürr A
Brain; 2003 Dec; 126(Pt 12):2761-72. PubMed ID: 14506070
[TBL] [Abstract][Full Text] [Related]
10. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.
Shimazaki H; Takiyama Y; Sakoe K; Ikeguchi K; Niijima K; Kaneko J; Namekawa M; Ogawa T; Date H; Tsuji S; Nakano I; Nishizawa M
Neurology; 2002 Aug; 59(4):590-5. PubMed ID: 12196655
[TBL] [Abstract][Full Text] [Related]
11. Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children.
Tsao CY; Paulson G
J Child Neurol; 2005 Jul; 20(7):619-20. PubMed ID: 16159533
[TBL] [Abstract][Full Text] [Related]
12. Loss of function mechanism in aprataxin-related early-onset ataxia.
Hirano M; Furiya Y; Kariya S; Nishiwaki T; Ueno S
Biochem Biophys Res Commun; 2004 Sep; 322(2):380-6. PubMed ID: 15325241
[TBL] [Abstract][Full Text] [Related]
13. Aprataxin mutations are a rare cause of early onset ataxia in Germany.
Habeck M; Zühlke C; Bentele KH; Unkelbach S; Kress W; Bürk K; Schwinger E; Hellenbroich Y
J Neurol; 2004 May; 251(5):591-4. PubMed ID: 15164193
[TBL] [Abstract][Full Text] [Related]
14. Spinocerebellar ataxia with ocular motor apraxia and DNA repair.
Onodera O
Neuropathology; 2006 Aug; 26(4):361-7. PubMed ID: 16961074
[TBL] [Abstract][Full Text] [Related]
15. Aprataxin (APTX) gene mutations resembling multiple system atrophy.
Baba Y; Uitti RJ; Boylan KB; Uehara Y; Yamada T; Farrer MJ; Couchon E; Batish SD; Wszolek ZK
Parkinsonism Relat Disord; 2007 Apr; 13(3):139-42. PubMed ID: 17049295
[TBL] [Abstract][Full Text] [Related]
16. DNA single-strand break repair is impaired in aprataxin-related ataxia.
Hirano M; Yamamoto A; Mori T; Lan L; Iwamoto TA; Aoki M; Shimada K; Furiya Y; Kariya S; Asai H; Yasui A; Nishiwaki T; Imoto K; Kobayashi N; Kiriyama T; Nagata T; Konishi N; Itoyama Y; Ueno S
Ann Neurol; 2007 Feb; 61(2):162-74. PubMed ID: 17315206
[TBL] [Abstract][Full Text] [Related]
17. Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis.
D'Arrigo S; Riva D; Bulgheroni S; Chiapparini L; Castellotti B; Gellera C; Pantaleoni C
J Child Neurol; 2008 Aug; 23(8):895-900. PubMed ID: 18403580
[TBL] [Abstract][Full Text] [Related]
18. Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
Kato T; Tamura Y; Matsumoto H; Kobayashi O; Ishiguro H; Ogawa M; Tsujikawa K; Hasegawa Y; Sakamoto M; Konagaya M; Houzen H; Takagi M; Imai K; Morio T; Yokoseki A; Onodera O; Nonoyama S
Clin Immunol; 2021 Aug; 229():108776. PubMed ID: 34118401
[TBL] [Abstract][Full Text] [Related]
19. A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2).
Nakamura K; Yoshida K; Makishita H; Kitamura E; Hashimoto S; Ikeda S
J Hum Genet; 2009 Dec; 54(12):746-8. PubMed ID: 19893583
[TBL] [Abstract][Full Text] [Related]
20. Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends.
Takahashi T; Tada M; Igarashi S; Koyama A; Date H; Yokoseki A; Shiga A; Yoshida Y; Tsuji S; Nishizawa M; Onodera O
Nucleic Acids Res; 2007; 35(11):3797-809. PubMed ID: 17519253
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
