BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

136 related articles for article (PubMed ID: 12629250)

  • 21. Aprataxin, a novel protein that protects against genotoxic stress.
    Gueven N; Becherel OJ; Kijas AW; Chen P; Howe O; Rudolph JH; Gatti R; Date H; Onodera O; Taucher-Scholz G; Lavin MF
    Hum Mol Genet; 2004 May; 13(10):1081-93. PubMed ID: 15044383
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. 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]  

  • 24. Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.
    Moreira MC; Barbot C; Tachi N; Kozuka N; Mendonça P; Barros J; Coutinho P; Sequeiros J; Koenig M
    Am J Hum Genet; 2001 Feb; 68(2):501-8. PubMed ID: 11170899
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends.
    Takahashi T; Tada M; Igarashi S; Koyama A; Date H; Yokoseki A; Shiga A; Yoshida Y; Tsuji S; Nishizawa M; Onodera O
    Nucleic Acids Res; 2007; 35(11):3797-809. PubMed ID: 17519253
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.
    Seidle HF; Bieganowski P; Brenner C
    J Biol Chem; 2005 Jun; 280(22):20927-31. PubMed ID: 15790557
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.
    Date H; Onodera O; Tanaka H; Iwabuchi K; Uekawa K; Igarashi S; Koike R; Hiroi T; Yuasa T; Awaya Y; Sakai T; Takahashi T; Nagatomo H; Sekijima Y; Kawachi I; Takiyama Y; Nishizawa M; Fukuhara N; Saito K; Sugano S; Tsuji S
    Nat Genet; 2001 Oct; 29(2):184-8. PubMed ID: 11586299
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.
    Yoon G; Westmacott R; MacMillan L; Quercia N; Koutsou P; Georghiou A; Christodoulou K; Banwell B
    J Neurol Neurosurg Psychiatry; 2008 Feb; 79(2):234-6. PubMed ID: 18202221
    [No Abstract]   [Full Text] [Related]  

  • 30. Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis.
    D'Arrigo S; Riva D; Bulgheroni S; Chiapparini L; Castellotti B; Gellera C; Pantaleoni C
    J Child Neurol; 2008 Aug; 23(8):895-900. PubMed ID: 18403580
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings.
    Aguillon D; Vasquez D; Madrigal L; Moreno S; Hernández D; Isaza-Ruget M; Lopez JJ; Landires I; Nuñez-Samudio V; Restrepo CM; Vidal OM; Vélez JI; Arcos-Holzinger M; Lopera F; Arcos-Burgos M
    Mol Neurobiol; 2022 Jun; 59(6):3845-3858. PubMed ID: 35420381
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Identification of a novel mutation in the
    Inlora J; Sailani MR; Khodadadi H; Teymurinezhad A; Takahashi S; Bernstein JA; Garshasbi M; Snyder MP
    Cold Spring Harb Mol Case Stud; 2017 Nov; 3(6):. PubMed ID: 28652255
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report.
    Imarisio A; Pilotto A; Lupini A; Biasiotto G; Zanella I; Currò R; Vegezzi E; Cortese A; Palmieri I; Valente EM; Padovani A
    Parkinsonism Relat Disord; 2024 Jun; 123():106943. PubMed ID: 38555792
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Aprataxin (APTX) gene mutations resembling multiple system atrophy.
    Baba Y; Uitti RJ; Boylan KB; Uehara Y; Yamada T; Farrer MJ; Couchon E; Batish SD; Wszolek ZK
    Parkinsonism Relat Disord; 2007 Apr; 13(3):139-42. PubMed ID: 17049295
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Short-patch single-strand break repair in ataxia oculomotor apraxia-1.
    Reynolds JJ; El-Khamisy SF; Caldecott KW
    Biochem Soc Trans; 2009 Jun; 37(Pt 3):577-81. PubMed ID: 19442253
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. 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]  

  • 38. 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]  

  • 39. Aprataxin mutations are a rare cause of early onset ataxia in Germany.
    Habeck M; Zühlke C; Bentele KH; Unkelbach S; Kress W; Bürk K; Schwinger E; Hellenbroich Y
    J Neurol; 2004 May; 251(5):591-4. PubMed ID: 15164193
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation.
    Nahas SA; Duquette A; Roddier K; Gatti RA; Brais B
    Neuromuscul Disord; 2007 Dec; 17(11-12):968-9. PubMed ID: 17720498
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.