BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

322 related articles for article (PubMed ID: 16700949)

  • 1. 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]  

  • 2. [Autosomal recessive cerebellar ataxias with oculomotor apraxia].
    Le Ber I; Rivaud-Péchoux S; Brice A; Dürr A
    Rev Neurol (Paris); 2006 Feb; 162(2):177-84. PubMed ID: 16518257
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Familial cognitive impairment with ataxia with oculomotor apraxia.
    Mahajnah M; Basel-Vanagaite L; Inbar D; Kornreich L; Weitz R; Straussberg R
    J Child Neurol; 2005 Jun; 20(6):523-5. PubMed ID: 15996403
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
    Castellotti B; Mariotti C; Rimoldi M; Fancellu R; Plumari M; Caimi S; Uziel G; Nardocci N; Moroni I; Zorzi G; Pareyson D; Di Bella D; Di Donato S; Taroni F; Gellera C
    Neurogenetics; 2011 Aug; 12(3):193-201. PubMed ID: 21465257
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 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. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. [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]  

  • 20. Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.
    Bohlega SA; Shinwari JM; Al Sharif LJ; Khalil DS; Alkhairallah TS; Al Tassan NA
    BMC Med Genet; 2011 Feb; 12():27. PubMed ID: 21324166
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.