BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

176 related articles for article (PubMed ID: 21412945)

  • 21. The FHA domain of aprataxin interacts with the C-terminal region of XRCC1.
    Date H; Igarashi S; Sano Y; Takahashi T; Takahashi T; Takano H; Tsuji S; Nishizawa M; Onodera O
    Biochem Biophys Res Commun; 2004 Dec; 325(4):1279-85. PubMed ID: 15555565
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Neurodegeneration: nicked to death.
    Wilson DM; Mattson MP
    Curr Biol; 2007 Jan; 17(2):R55-8. PubMed ID: 17240329
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. 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]  

  • 26. 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]  

  • 27. Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents.
    Ababneh NA; Ali D; Al-Kurdi B; Sallam M; Alzibdeh AM; Salah B; Ryalat AT; Azab B; Sharrack B; Awidi A
    PLoS One; 2020; 15(8):e0236808. PubMed ID: 32750061
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.
    Ferrarini M; Squintani G; Cavallaro T; Ferrari S; Rizzuto N; Fabrizi GM
    J Neurol Sci; 2007 Sep; 260(1-2):219-24. PubMed ID: 17572444
    [TBL] [Abstract][Full Text] [Related]  

  • 30. The role of the Ataxia telangiectasia gene in the p53, WAF1/CIP1(p21)- and GADD45-mediated response to DNA damage produced by ionising radiation.
    Artuso M; Esteve A; Brésil H; Vuillaume M; Hall J
    Oncogene; 1995 Oct; 11(8):1427-35. PubMed ID: 7478567
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
    Hirano M; Nishiwaki T; Kariya S; Furiya Y; Kawahara M; Ueno S
    Neurosci Lett; 2004 Aug; 366(2):120-5. PubMed ID: 15276230
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
    Kato T; Tamura Y; Matsumoto H; Kobayashi O; Ishiguro H; Ogawa M; Tsujikawa K; Hasegawa Y; Sakamoto M; Konagaya M; Houzen H; Takagi M; Imai K; Morio T; Yokoseki A; Onodera O; Nonoyama S
    Clin Immunol; 2021 Aug; 229():108776. PubMed ID: 34118401
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrity.
    Tumbale P; Williams JS; Schellenberg MJ; Kunkel TA; Williams RS
    Nature; 2014 Feb; 506(7486):111-5. PubMed ID: 24362567
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.
    Shimazaki H; Takiyama Y; Sakoe K; Ikeguchi K; Niijima K; Kaneko J; Namekawa M; Ogawa T; Date H; Tsuji S; Nakano I; Nishizawa M
    Neurology; 2002 Aug; 59(4):590-5. PubMed ID: 12196655
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Purkinje cell loss in the cerebellar flocculus in patients with ataxia with ocular motor apraxia type 1/early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
    Sugawara M; Wada C; Okawa S; Kobayashi M; Sageshima M; Imota T; Toyoshima I
    Eur Neurol; 2008; 59(1-2):18-23. PubMed ID: 17917453
    [TBL] [Abstract][Full Text] [Related]  

  • 38. XRCC1 is required for DNA single-strand break repair in human cells.
    Brem R; Hall J
    Nucleic Acids Res; 2005; 33(8):2512-20. PubMed ID: 15867196
    [TBL] [Abstract][Full Text] [Related]  

  • 39. New insights into the Fanconi anemia pathway from an isogenic FancG hamster CHO mutant.
    Tebbs RS; Hinz JM; Yamada NA; Wilson JB; Salazar EP; Thomas CB; Jones IM; Jones NJ; Thompson LH
    DNA Repair (Amst); 2005 Jan; 4(1):11-22. PubMed ID: 15533833
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 9.