BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

481 related articles for article (PubMed ID: 19696032)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.
    Duquette A; Roddier K; McNabb-Baltar J; Gosselin I; St-Denis A; Dicaire MJ; Loisel L; Labuda D; Marchand L; Mathieu J; Bouchard JP; Brais B
    Ann Neurol; 2005 Mar; 57(3):408-14. PubMed ID: 15732101
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
    Moreira MC; Klur S; Watanabe M; Németh AH; Le Ber I; Moniz JC; Tranchant C; Aubourg P; Tazir M; Schöls L; Pandolfo M; Schulz JB; Pouget J; Calvas P; Shizuka-Ikeda M; Shoji M; Tanaka M; Izatt L; Shaw CE; M'Zahem A; Dunne E; Bomont P; Benhassine T; Bouslam N; Stevanin G; Brice A; Guimarães J; Mendonça P; Barbot C; Coutinho P; Sequeiros J; Dürr A; Warter JM; Koenig M
    Nat Genet; 2004 Mar; 36(3):225-7. PubMed ID: 14770181
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Sensory neuronopathy in ataxia with oculomotor apraxia type 2.
    Gazulla J; Benavente I; López-Fraile IP; Tordesillas C; Modrego P; Alonso I; Pinto-Basto J
    J Neurol Sci; 2010 Nov; 298(1-2):118-20. PubMed ID: 20869730
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
    Renaud M; Moreira MC; Ben Monga B; Rodriguez D; Debs R; Charles P; Chaouch M; Ferrat F; Laurencin C; Vercueil L; Mallaret M; M'Zahem A; Pacha LA; Tazir M; Tilikete C; Ollagnon E; Ochsner F; Kuntzer T; Jung HH; Beis JM; Netter JC; Djamshidian A; Bower M; Bottani A; Walsh R; Murphy S; Reiley T; Bieth É; Roelens F; Poll-The BT; Lourenço CM; Jardim LB; Straussberg R; Landrieu P; Roze E; Thobois S; Pouget J; Guissart C; Goizet C; Dürr A; Tranchant C; Koenig M; Anheim M
    JAMA Neurol; 2018 Apr; 75(4):495-502. PubMed ID: 29356829
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Ataxia-telangiectasia, an evolving phenotype.
    Chun HH; Gatti RA
    DNA Repair (Amst); 2004; 3(8-9):1187-96. PubMed ID: 15279807
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature.
    Paucar M; Taylor AMR; Hadjivassiliou M; Fogel BL; Svenningsson P
    Tremor Other Hyperkinet Mov (N Y); 2019; 9():. PubMed ID: 31656689
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 25.