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PUBMED FOR HANDHELDS

Journal Abstract Search


142 related items for PubMed ID: 15365154

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  • 2. 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 27; 59(4):590-5. PubMed ID: 12196655
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  • 4. Early-onset ataxia with oculomotor apraxia with a novel APTX mutation.
    Ito A, Yamagata T, Mori M, Momoi MY.
    Pediatr Neurol; 2005 Jul 27; 33(1):53-6. PubMed ID: 15876520
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  • 5. Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.
    Quinzii CM, Kattah AG, Naini A, Akman HO, Mootha VK, DiMauro S, Hirano M.
    Neurology; 2005 Feb 08; 64(3):539-41. PubMed ID: 15699391
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  • 7. 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
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  • 8. Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.
    Inlora J, Sailani MR, Khodadadi H, Teymurinezhad A, Takahashi S, Bernstein JA, Garshasbi M, Snyder MP.
    Cold Spring Harb Mol Case Stud; 2017 Nov 01; 3(6):. PubMed ID: 28652255
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  • 13. 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 12; 366(2):120-5. PubMed ID: 15276230
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  • 16. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.
    Tada M, Yokoseki A, Sato T, Makifuchi T, Onodera O.
    Adv Exp Med Biol; 2010 Aug 12; 685():21-33. PubMed ID: 20687492
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  • 18. 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 12; 23(8):895-900. PubMed ID: 18403580
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  • 19. 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 12; 21(4):241-5. PubMed ID: 23111195
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