252 related articles for article (PubMed ID: 16518257)
1. [Autosomal recessive cerebellar ataxias with oculomotor apraxia].
Le Ber I; Rivaud-Péchoux S; Brice A; Dürr A
Rev Neurol (Paris); 2006 Feb; 162(2):177-84. PubMed ID: 16518257
[TBL] [Abstract][Full Text] [Related]
2. New autosomal recessive cerebellar ataxias with oculomotor apraxia.
Le Ber I; Brice A; Dürr A
Curr Neurol Neurosci Rep; 2005 Sep; 5(5):411-7. PubMed ID: 16131425
[TBL] [Abstract][Full Text] [Related]
3. Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.
Bohlega SA; Shinwari JM; Al Sharif LJ; Khalil DS; Alkhairallah TS; Al Tassan NA
BMC Med Genet; 2011 Feb; 12():27. PubMed ID: 21324166
[TBL] [Abstract][Full Text] [Related]
4. Atypical presentation of ataxia-oculomotor apraxia type 1.
Shahwan A; Byrd PJ; Taylor AM; Nestor T; Ryan S; King MD
Dev Med Child Neurol; 2006 Jun; 48(6):529-32. PubMed ID: 16700949
[TBL] [Abstract][Full Text] [Related]
5. SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
Nanetti L; Cavalieri S; Pensato V; Erbetta A; Pareyson D; Panzeri M; Zorzi G; Antozzi C; Moroni I; Gellera C; Brusco A; Mariotti C
Orphanet J Rare Dis; 2013 Aug; 8():123. PubMed ID: 23941260
[TBL] [Abstract][Full Text] [Related]
6. Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.
da Costa SCG; Rezende Filho FM; de Freitas JL; de Assis Pereira Matos PCA; Della-Ripa B; França MC; Marques W; Santos M; Cronemberger IVB; Vale TC; Kok F; Alonso I; Pedroso JL; Barsottini OGP
Mov Disord; 2022 Jun; 37(6):1309-1316. PubMed ID: 35426160
[TBL] [Abstract][Full Text] [Related]
7. [Ataxia with oculomotor apraxia: clinical-genetic characteristics and DNA-diagnostic].
Rudenskaia GE; Kurkina MV; Zakharova EIu
Zh Nevrol Psikhiatr Im S S Korsakova; 2012; 112(10):58-63. PubMed ID: 23250602
[TBL] [Abstract][Full Text] [Related]
8. Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.
Németh AH; Bochukova E; Dunne E; Huson SM; Elston J; Hannan MA; Jackson M; Chapman CJ; Taylor AM
Am J Hum Genet; 2000 Nov; 67(5):1320-6. PubMed ID: 11022012
[TBL] [Abstract][Full Text] [Related]
9. Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.
Bernard V; Minnerop M; Bürk K; Kreuz F; Gillessen-Kaesbach G; Zühlke C
BMC Med Genet; 2009 Sep; 10():87. PubMed ID: 19744353
[TBL] [Abstract][Full Text] [Related]
10. Autosomal Recessive Cerebellar Ataxias With Elevated Alpha-Fetoprotein: Uncommon Diseases, Common Biomarker.
Renaud M; Tranchant C; Koenig M; Anheim M
Mov Disord; 2020 Dec; 35(12):2139-2149. PubMed ID: 33044027
[TBL] [Abstract][Full Text] [Related]
11. Familial cognitive impairment with ataxia with oculomotor apraxia.
Mahajnah M; Basel-Vanagaite L; Inbar D; Kornreich L; Weitz R; Straussberg R
J Child Neurol; 2005 Jun; 20(6):523-5. PubMed ID: 15996403
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients.
Tazir M; Ali-Pacha L; M'Zahem A; Delaunoy JP; Fritsch M; Nouioua S; Benhassine T; Assami S; Grid D; Vallat JM; Hamri A; Koenig M
J Neurol Sci; 2009 Mar; 278(1-2):77-81. PubMed ID: 19141356
[TBL] [Abstract][Full Text] [Related]
14. Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.
Criscuolo C; Chessa L; Di Giandomenico S; Mancini P; Saccà 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 Apr; 66(8):1207-10. PubMed ID: 16636238
[TBL] [Abstract][Full Text] [Related]
15. Heterozygous deletion in exon 6 of
Kinkar JS; Jameel PZ; Kumawat BL; Kalbhor P
BMJ Case Rep; 2021 Jun; 14(6):. PubMed ID: 34193451
[TBL] [Abstract][Full Text] [Related]
16. Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.
Le Ber I; Dubourg O; Benoist JF; Jardel C; Mochel F; Koenig M; Brice A; Lombès A; Dürr A
Neurology; 2007 Jan; 68(4):295-7. PubMed ID: 17242337
[TBL] [Abstract][Full Text] [Related]
17. Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
Castellotti B; Mariotti C; Rimoldi M; Fancellu R; Plumari M; Caimi S; Uziel G; Nardocci N; Moroni I; Zorzi G; Pareyson D; Di Bella D; Di Donato S; Taroni F; Gellera C
Neurogenetics; 2011 Aug; 12(3):193-201. PubMed ID: 21465257
[TBL] [Abstract][Full Text] [Related]
18. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families.
Anheim M; Fleury MC; Franques J; Moreira MC; Delaunoy JP; Stoppa-Lyonnet D; Koenig M; Tranchant C
Arch Neurol; 2008 Jul; 65(7):958-62. PubMed ID: 18625865
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4.
Clements PM; Breslin C; Deeks ED; Byrd PJ; Ju L; Bieganowski P; Brenner C; Moreira MC; Taylor AM; Caldecott KW
DNA Repair (Amst); 2004 Nov; 3(11):1493-502. PubMed ID: 15380105
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
