BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

259 related articles for article (PubMed ID: 27644330)

  • 21. 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]  

  • 22. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
    Anheim M; Monga B; Fleury M; Charles P; Barbot C; Salih M; Delaunoy JP; Fritsch M; Arning L; Synofzik M; Schöls L; Sequeiros J; Goizet C; Marelli C; Le Ber I; Koht J; Gazulla J; De Bleecker J; Mukhtar M; Drouot N; Ali-Pacha L; Benhassine T; Chbicheb M; M'Zahem A; Hamri A; Chabrol B; Pouget J; Murphy R; Watanabe M; Coutinho P; Tazir M; Durr A; Brice A; Tranchant C; Koenig M
    Brain; 2009 Oct; 132(Pt 10):2688-98. PubMed ID: 19696032
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.
    Fogel BL; Cho E; Wahnich A; Gao F; Becherel OJ; Wang X; Fike F; Chen L; Criscuolo C; De Michele G; Filla A; Collins A; Hahn AF; Gatti RA; Konopka G; Perlman S; Lavin MF; Geschwind DH; Coppola G
    Hum Mol Genet; 2014 Sep; 23(18):4758-69. PubMed ID: 24760770
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents.
    Vantaggiato C; Cantoni O; Guidarelli A; Romaniello R; Citterio A; Arrigoni F; Doneda C; Castelli M; Airoldi G; Bresolin N; Borgatti R; Bassi MT
    Brain Dev; 2014 Sep; 36(8):682-9. PubMed ID: 24183476
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage.
    Roda RH; Rinaldi C; Singh R; Schindler AB; Blackstone C
    J Clin Neurosci; 2014 Sep; 21(9):1627-31. PubMed ID: 24814856
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2).
    Arning L; Schöls L; Cin H; Souquet M; Epplen JT; Timmann D
    Neurogenetics; 2008 Oct; 9(4):295-9. PubMed ID: 18663494
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.
    Hamza W; Ali Pacha L; Hamadouche T; Muller J; Drouot N; Ferrat F; Makri S; Chaouch M; Tazir M; Koenig M; Benhassine T
    BMC Med Genet; 2015 Jun; 16():36. PubMed ID: 26068213
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
    Mancini C; Orsi L; Guo Y; Li J; Chen Y; Wang F; Tian L; Liu X; Zhang J; Jiang H; Nmezi BS; Tatsuta T; Giorgio E; Di Gregorio E; Cavalieri S; Pozzi E; Mortara P; Caglio MM; Balducci A; Pinessi L; Langer T; Padiath QS; Hakonarson H; Zhang X; Brusco A
    BMC Med Genet; 2015 Mar; 16():16. PubMed ID: 25927548
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.
    Le Ber I; Bouslam N; Rivaud-Péchoux S; Guimarães 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 Apr; 127(Pt 4):759-67. PubMed ID: 14736755
    [TBL] [Abstract][Full Text] [Related]  

  • 31. SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation.
    Richard P; Feng S; Tsai YL; Li W; Rinchetti P; Muhith U; Irizarry-Cole J; Stolz K; Sanz LA; Hartono S; Hoque M; Tadesse S; Seitz H; Lotti F; Hirano M; Chédin F; Tian B; Manley JL
    Autophagy; 2021 Aug; 17(8):1889-1906. PubMed ID: 32686621
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.
    Cheng HL; Shao YR; Dong Y; Dong HL; Yang L; Ma Y; Shen Y; Wu ZY
    Transl Neurodegener; 2021 Oct; 10(1):40. PubMed ID: 34663476
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival.
    Davis MY; Keene CD; Swanson PD; Sheehy C; Bird TD
    J Neurol Sci; 2013 Dec; 335(1-2):134-8. PubMed ID: 24090759
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families.
    Hammer MB; El Euch-Fayache G; Nehdi H; Saidi D; Nasri A; Nabli F; Bouhlal Y; Maamouri-Hicheri W; Hentati F; Amouri R
    Diagn Mol Pathol; 2012 Dec; 21(4):241-5. PubMed ID: 23111195
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation.
    Suraweera A; Lim Y; Woods R; Birrell GW; Nasim T; Becherel OJ; Lavin MF
    Hum Mol Genet; 2009 Sep; 18(18):3384-96. PubMed ID: 19515850
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [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]  

  • 38. Genetic heterogeneity within a consanguineous family involving
    Jeridi C; Rachdi A; Nabli F; Saied Z; Zouari R; Ben Mohamed D; Ben Said M; Masmoudi S; Ben Sassi S; Amouri R
    J Neurogenet; 2023; 37(4):124-130. PubMed ID: 38109176
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2.
    Catford SR; O'Bryan MK; McLachlan RI; Delatycki MB; Rombauts L
    Reprod Biomed Online; 2019 Jun; 38(6):961-965. PubMed ID: 30642639
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2.
    Fogel BL; Lee JY; Perlman S
    Cerebellum; 2009 Dec; 8(4):448-53. PubMed ID: 19727998
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.