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383 related items for PubMed ID: 18625865

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
    Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, Delaunoy JP, Fritsch M, Arning L, Synofzik M, Schöls L, Sequeiros J, Goizet C, Marelli C, Le Ber I, Koht J, Gazulla J, De Bleecker J, Mukhtar M, Drouot N, Ali-Pacha L, Benhassine T, Chbicheb M, M'Zahem A, Hamri A, Chabrol B, Pouget J, Murphy R, Watanabe M, Coutinho P, Tazir M, Durr A, Brice A, Tranchant C, Koenig M.
    Brain; 2009 Oct; 132(Pt 10):2688-98. PubMed ID: 19696032
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.
    Le Ber I, Bouslam N, Rivaud-Péchoux S, Guimarães J, Benomar A, Chamayou C, Goizet C, Moreira MC, Klur S, Yahyaoui M, Agid Y, Koenig M, Stevanin G, Brice A, Dürr A.
    Brain; 2004 Apr; 127(Pt 4):759-67. PubMed ID: 14736755
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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 15; 278(1-2):77-81. PubMed ID: 19141356
    [Abstract] [Full Text] [Related]

  • 7. Ataxia with oculomotor apraxia type 2: novel mutations in six patients with juvenile age of onset and elevated serum alpha-fetoprotein.
    Bernard V, Stricker S, Kreuz F, Minnerop M, Gillessen-Kaesbach G, Zühlke C.
    Neuropediatrics; 2008 Dec 15; 39(6):347-50. PubMed ID: 19569000
    [Abstract] [Full Text] [Related]

  • 8. 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 25; 66(8):1207-10. PubMed ID: 16636238
    [Abstract] [Full Text] [Related]

  • 9. Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.
    Duquette A, Roddier K, McNabb-Baltar J, Gosselin I, St-Denis A, Dicaire MJ, Loisel L, Labuda D, Marchand L, Mathieu J, Bouchard JP, Brais B.
    Ann Neurol; 2005 Mar 25; 57(3):408-14. PubMed ID: 15732101
    [Abstract] [Full Text] [Related]

  • 10. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families.
    Hammer MB, El Euch-Fayache G, Nehdi H, Saidi D, Nasri A, Nabli F, Bouhlal Y, Maamouri-Hicheri W, Hentati F, Amouri R.
    Diagn Mol Pathol; 2012 Dec 25; 21(4):241-5. PubMed ID: 23111195
    [Abstract] [Full Text] [Related]

  • 11. 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 14; 8():123. PubMed ID: 23941260
    [Abstract] [Full Text] [Related]

  • 12. A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.
    Al Tassan N, Khalil D, Shinwari J, Al Sharif L, Bavi P, Abduljaleel Z, Abu Dhaim N, Magrashi A, Bobis S, Ahmed H, Alahmed S, Bohlega S.
    Hum Mutat; 2012 Feb 14; 33(2):351-4. PubMed ID: 22065524
    [Abstract] [Full Text] [Related]

  • 13. 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 14; 20(6):523-5. PubMed ID: 15996403
    [Abstract] [Full Text] [Related]

  • 14. 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 14; 126(Pt 12):2761-72. PubMed ID: 14506070
    [Abstract] [Full Text] [Related]

  • 15. 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 23; 68(4):295-7. PubMed ID: 17242337
    [Abstract] [Full Text] [Related]

  • 16. Ataxia with oculomotor apraxia.
    Liu W, Narayanan V.
    Semin Pediatr Neurol; 2008 Dec 23; 15(4):216-20. PubMed ID: 19073331
    [Abstract] [Full Text] [Related]

  • 17. Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.
    Fogel BL, Perlman S.
    Neurology; 2006 Dec 12; 67(11):2083-4. PubMed ID: 17159128
    [No Abstract] [Full Text] [Related]

  • 18. Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.
    Bernard V, Minnerop M, Bürk K, Kreuz F, Gillessen-Kaesbach G, Zühlke C.
    BMC Med Genet; 2009 Sep 11; 10():87. PubMed ID: 19744353
    [Abstract] [Full Text] [Related]

  • 19. Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.
    Asaka T, Yokoji H, Ito J, Yamaguchi K, Matsushima A.
    Neurology; 2006 May 23; 66(10):1580-1. PubMed ID: 16717225
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 75(4):495-502. PubMed ID: 29356829
    [Abstract] [Full Text] [Related]

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