BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

312 related articles for article (PubMed ID: 7782601)

  • 41. Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome.
    Pedroso JL; Vale TC; da Costa SCG; Santos M; Alonso I; Barsottini OGP
    Tremor Other Hyperkinet Mov (N Y); 2020 Oct; 10():39. PubMed ID: 33101765
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study.
    Riise R; Ygge J; Lindman C; Stray-Pedersen A; Bek T; Rødningen OK; Heiberg A
    Acta Ophthalmol Scand; 2007 Aug; 85(5):557-62. PubMed ID: 17376192
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Primary degeneration of the granular layer of the cerebellum. A study of 14 patients and review of the literature.
    Pascual-Castroviejo I; Gutierrez M; Morales C; Gonzalez-Mediero I; Martínez-Bermejo A; Pascual-Pascual SI
    Neuropediatrics; 1994 Aug; 25(4):183-90. PubMed ID: 7824090
    [TBL] [Abstract][Full Text] [Related]  

  • 44. 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]  

  • 45. 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]  

  • 46. Clinical and genetic features of ataxia-telangiectasia.
    Bundey S
    Int J Radiat Biol; 1994 Dec; 66(6 Suppl):S23-9. PubMed ID: 7836849
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.
    Tada M; Yokoseki A; Sato T; Makifuchi T; Onodera O
    Adv Exp Med Biol; 2010; 685():21-33. PubMed ID: 20687492
    [TBL] [Abstract][Full Text] [Related]  

  • 48. 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]  

  • 49. A novel nonsense mutation in the APTX gene associated with delayed DNA single-strand break removal fails to enhance sensitivity to different genotoxic agents.
    Crimella C; Cantoni O; Guidarelli A; Vantaggiato C; Martinuzzi A; Fiorani M; Azzolini C; Orso G; Bresolin N; Bassi MT
    Hum Mutat; 2011 Apr; 32(4):E2118-33. PubMed ID: 21412945
    [TBL] [Abstract][Full Text] [Related]  

  • 50. 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]  

  • 51. Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.
    Mariani LL; Rivaud-Péchoux S; Charles P; Ewenczyk C; Meneret A; Monga BB; Fleury MC; Hainque E; Maisonobe T; Degos B; Echaniz-Laguna A; Renaud M; Wirth T; Grabli D; Brice A; Vidailhet M; Stoppa-Lyonnet D; Dubois-d'Enghien C; Le Ber I; Koenig M; Roze E; Tranchant C; Durr A; Gaymard B; Anheim M
    Sci Rep; 2017 Nov; 7(1):15284. PubMed ID: 29127364
    [TBL] [Abstract][Full Text] [Related]  

  • 52. A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease.
    Nouri N; Nouri N; Aryani O; Kamalidehghan B; Sedghi M; Houshmand M
    Iran Biomed J; 2012; 16(4):223-5. PubMed ID: 23183622
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation.
    Kim M; Kim AR; Park J; Kim JS; Ahn JH; Park WY; Kim NKD; Lee C; Kim NS; Cho JW; Youn J
    Clin Neurol Neurosurg; 2020 Dec; 199():106267. PubMed ID: 33080427
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
    Bras J; Alonso I; Barbot C; Costa MM; Darwent L; Orme T; Sequeiros J; Hardy J; Coutinho P; Guerreiro R
    Am J Hum Genet; 2015 Mar; 96(3):474-9. PubMed ID: 25728773
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.
    van Minkelen R; Guitart M; Escofet C; Yoon G; Elfferich P; Bolman GM; van der Helm R; van de Graaf R; van den Ouweland AM
    BMC Med Genet; 2015 Aug; 16():61. PubMed ID: 26285866
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Aprataxin gene mutations in Tunisian families.
    Amouri R; Moreira MC; Zouari M; El Euch G; Barhoumi C; Kefi M; Belal S; Koenig M; Hentati F
    Neurology; 2004 Sep; 63(5):928-9. PubMed ID: 15365154
    [TBL] [Abstract][Full Text] [Related]  

  • 57. 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]  

  • 58. Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases.
    Goutières F; Boulloche J; Bourgeois M; Aicardi J
    J Child Neurol; 1996 Nov; 11(6):439-44. PubMed ID: 9120220
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Hereditary ataxias: overview.
    Jayadev S; Bird TD
    Genet Med; 2013 Sep; 15(9):673-83. PubMed ID: 23538602
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Increased level of bleomycin-induced chromosome breakage in ataxia telangiectasia skin fibroblasts.
    Shaham M; Becker Y; Lerer I; Voss R
    Cancer Res; 1983 Sep; 43(9):4244-7. PubMed ID: 6191860
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 16.