BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

235 related articles for article (PubMed ID: 23111195)

  • 1. 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]  

  • 2. 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]  

  • 3. Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1.
    Ichikawa Y; Ishiura H; Mitsui J; Takahashi Y; Kobayashi S; Takuma H; Kanazawa I; Doi K; Yoshimura J; Morishita S; Goto J; Tsuji S
    J Neurol Sci; 2013 Aug; 331(1-2):158-60. PubMed ID: 23786967
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.
    Asaka T; Yokoji H; Ito J; Yamaguchi K; Matsushima A
    Neurology; 2006 May; 66(10):1580-1. PubMed ID: 16717225
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.
    Al Tassan N; Khalil D; Shinwari J; Al Sharif L; Bavi P; Abduljaleel Z; Abu Dhaim N; Magrashi A; Bobis S; Ahmed H; Alahmed S; Bohlega S
    Hum Mutat; 2012 Feb; 33(2):351-4. PubMed ID: 22065524
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Ataxia with oculomotor apraxia type 2: novel mutations in six patients with juvenile age of onset and elevated serum alpha-fetoprotein.
    Bernard V; Stricker S; Kreuz F; Minnerop M; Gillessen-Kaesbach G; Zühlke C
    Neuropediatrics; 2008 Dec; 39(6):347-50. PubMed ID: 19569000
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2.
    Pera J; Lechner S; Biskup S; Strach M; Grodzicki T; Slowik A
    Clin Neurol Neurosurg; 2015 Jan; 128():44-6. PubMed ID: 25462094
    [No Abstract]   [Full Text] [Related]  

  • 14. Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review.
    Chen S; Du J; Jiang H; Zhao W; Wang N; Ying A; Li J; Chen S; Shen B; Zhou Y
    Front Mol Neurosci; 2022; 15():1019974. PubMed ID: 36438189
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.
    El Euch-Fayache G; Lalani I; Amouri R; Turki I; Ouahchi K; Hung WY; Belal S; Siddique T; Hentati F
    Arch Neurol; 2003 Jul; 60(7):982-8. PubMed ID: 12873855
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon.
    Ponger P; Kurolap A; Lerer I; Dagan J; Chai Gadot C; Mory A; Wilnai Y; Oniashvili N; Giladi N; Gurevich T; Meiner V; Lossos A; Baris Feldman H
    J Mol Neurosci; 2022 Aug; 72(8):1715-1723. PubMed ID: 35676594
    [TBL] [Abstract][Full Text] [Related]  

  • 17. SETX gene novel mutations in a non-French Canadian with ataxia-oculomotor apraxia type 2.
    Ghrooda S; Borys A; Spriggs E; Hegde M; Mhanni A
    Parkinsonism Relat Disord; 2012 Jun; 18(5):700-1. PubMed ID: 22341623
    [No Abstract]   [Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. "Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2).
    Schöls L; Arning L; Schüle R; Epplen JT; Timmann D
    J Neurol; 2008 Apr; 255(4):495-501. PubMed ID: 18350359
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.