BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

175 related articles for article (PubMed ID: 36382100)

  • 21. Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation.
    Karimzadeh P; Khayatzadeh Kakhki S; Esmail Nejad SS; Houshmand M; Ghofrani M
    Iran J Child Neurol; 2017; 11(1):78-81. PubMed ID: 28277561
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. 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]  

  • 24. Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype.
    Criscuolo C; Mancini P; Saccà F; De Michele G; Monticelli A; Santoro L; Scarano V; Banfi S; Filla A
    Neurology; 2004 Dec; 63(11):2173-5. PubMed ID: 15596775
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.
    da Costa SCG; Rezende Filho FM; de Freitas JL; de Assis Pereira Matos PCA; Della-Ripa B; França MC; Marques W; Santos M; Cronemberger IVB; Vale TC; Kok F; Alonso I; Pedroso JL; Barsottini OGP
    Mov Disord; 2022 Jun; 37(6):1309-1316. PubMed ID: 35426160
    [TBL] [Abstract][Full Text] [Related]  

  • 27. DNA single-strand break repair is impaired in aprataxin-related ataxia.
    Hirano M; Yamamoto A; Mori T; Lan L; Iwamoto TA; Aoki M; Shimada K; Furiya Y; Kariya S; Asai H; Yasui A; Nishiwaki T; Imoto K; Kobayashi N; Kiriyama T; Nagata T; Konishi N; Itoyama Y; Ueno S
    Ann Neurol; 2007 Feb; 61(2):162-74. PubMed ID: 17315206
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. 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]  

  • 30. 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]  

  • 31. 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]  

  • 32. 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]  

  • 33. [Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia].
    Ochsner F; Le Ber I; Said G; Moreira MC; Michel P; Koenig M; Dürr A; Brice A; Kuntzer T
    Rev Neurol (Paris); 2005 Mar; 161(3):331-6. PubMed ID: 15800456
    [TBL] [Abstract][Full Text] [Related]  

  • 34. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.
    Moreira MC; Barbot C; Tachi N; Kozuka N; Uchida E; Gibson T; Mendonça P; Costa M; Barros J; Yanagisawa T; Watanabe M; Ikeda Y; Aoki M; Nagata T; Coutinho P; Sequeiros J; Koenig M
    Nat Genet; 2001 Oct; 29(2):189-93. PubMed ID: 11586300
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Early-Onset Friedreich's Ataxia With Oculomotor Apraxia.
    Saghazadeh A; Hafizi S; Hosseini F; Ashrafi MR; Rezaei N
    Acta Med Iran; 2017 Feb; 55(2):128-130. PubMed ID: 28282710
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [DNA repair and neurodegeneration].
    Onodera O
    Rinsho Shinkeigaku; 2005 Nov; 45(11):979-81. PubMed ID: 16447779
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. 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]  

  • 40. [Ataxia with oculomotor apraxia: clinical-genetic characteristics and DNA-diagnostic].
    Rudenskaia GE; Kurkina MV; Zakharova EIu
    Zh Nevrol Psikhiatr Im S S Korsakova; 2012; 112(10):58-63. PubMed ID: 23250602
    [TBL] [Abstract][Full Text] [Related]  

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