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Journal Abstract Search
93 related items for PubMed ID: 22341623
1. SETX gene novel mutations in a non-French Canadian with ataxia-oculomotor apraxia type 2. Ghrooda S, Borys A, Spriggs E, Hegde M, Mhanni A. Parkinsonism Relat Disord; 2012 Jun; 18(5):700-1. PubMed ID: 22341623 [No Abstract] [Full Text] [Related]
2. 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; 21(4):241-5. PubMed ID: 23111195 [Abstract] [Full Text] [Related]
3. Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2. Pera J, Lechner S, Biskup S, Strach M, Grodzicki T, Slowik A. Clin Neurol Neurosurg; 2015 Jan; 128():44-6. PubMed ID: 25462094 [No Abstract] [Full Text] [Related]
4. 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 16; 12():27. PubMed ID: 21324166 [Abstract] [Full Text] [Related]
5. Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1. Ichikawa Y, Ishiura H, Mitsui J, Takahashi Y, Kobayashi S, Takuma H, Kanazawa I, Doi K, Yoshimura J, Morishita S, Goto J, Tsuji S. J Neurol Sci; 2013 Aug 15; 331(1-2):158-60. PubMed ID: 23786967 [Abstract] [Full Text] [Related]
6. 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]
8. Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation. Nahas SA, Duquette A, Roddier K, Gatti RA, Brais B. Neuromuscul Disord; 2007 Dec 23; 17(11-12):968-9. PubMed ID: 17720498 [Abstract] [Full Text] [Related]
10. 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 23; 54(12):746-8. PubMed ID: 19893583 [Abstract] [Full Text] [Related]
11. 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]
12. A novel SETX gene mutation producing ataxia with oculomotor apraxia type 2. Szpisjak L, Obal I, Engelhardt JI, Vecsei L, Klivenyi P. Acta Neurol Belg; 2016 Sep 15; 116(3):405-7. PubMed ID: 26811093 [No Abstract] [Full Text] [Related]
14. An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2. Mancini C, Orsi L, Guo Y, Li J, Chen Y, Wang F, Tian L, Liu X, Zhang J, Jiang H, Nmezi BS, Tatsuta T, Giorgio E, Di Gregorio E, Cavalieri S, Pozzi E, Mortara P, Caglio MM, Balducci A, Pinessi L, Langer T, Padiath QS, Hakonarson H, Zhang X, Brusco A. BMC Med Genet; 2015 Mar 19; 16():16. PubMed ID: 25927548 [Abstract] [Full Text] [Related]
15. 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 19; 39(6):347-50. PubMed ID: 19569000 [Abstract] [Full Text] [Related]
16. Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2. Gazulla J, Benavente I, López-Fraile IP, Modrego P, Koenig M. Muscle Nerve; 2009 Sep 19; 40(3):481-5. PubMed ID: 19618424 [Abstract] [Full Text] [Related]
17. Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents. Vantaggiato C, Cantoni O, Guidarelli A, Romaniello R, Citterio A, Arrigoni F, Doneda C, Castelli M, Airoldi G, Bresolin N, Borgatti R, Bassi MT. Brain Dev; 2014 Sep 19; 36(8):682-9. PubMed ID: 24183476 [Abstract] [Full Text] [Related]