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Journal Abstract Search

267 related items for PubMed ID: 36438189

  • 1. Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review.
    Chen S, Du J, Jiang H, Zhao W, Wang N, Ying A, Li J, Chen S, Shen B, Zhou Y.
    Front Mol Neurosci; 2022; 15():1019974. PubMed ID: 36438189
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review.
    Chiang PI, Liao TW, Chen CM.
    Brain Sci; 2022 Jan 28; 12(2):. PubMed ID: 35203940
    [Abstract] [Full Text] [Related]

  • 4. Obsessive-compulsive disorder as a first manifestation of Ataxia with Oculomotor Apraxia type 2 due to a novel mutation of SETX gene.
    Galota F, Di Rauso G, Sireci F, Castellucci A, Cavallieri F, Monfrini E, Fioravanti V, Campanini I, Merlo A, Napoli M, Cavazzuti L, Grisanti S, Ferrari S, Di Fonzo A, Valzania F.
    Neurol Sci; 2024 Sep 19. PubMed ID: 39294407
    [Abstract] [Full Text] [Related]

  • 5. Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon.
    Ponger P, Kurolap A, Lerer I, Dagan J, Chai Gadot C, Mory A, Wilnai Y, Oniashvili N, Giladi N, Gurevich T, Meiner V, Lossos A, Baris Feldman H.
    J Mol Neurosci; 2022 Aug 19; 72(8):1715-1723. PubMed ID: 35676594
    [Abstract] [Full Text] [Related]

  • 6. 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 19; 132(Pt 10):2688-98. PubMed ID: 19696032
    [Abstract] [Full Text] [Related]

  • 7. 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 19; 54(12):746-8. PubMed ID: 19893583
    [Abstract] [Full Text] [Related]

  • 8. 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 19; 21(4):241-5. PubMed ID: 23111195
    [Abstract] [Full Text] [Related]

  • 9. 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 19; 65(7):958-62. PubMed ID: 18625865
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Heterozygous deletion in exon 6 of STEX gene causing ataxia with oculomotor apraxia type 2 (AOA-2) with ovarian failure.
    Kinkar JS, Jameel PZ, Kumawat BL, Kalbhor P.
    BMJ Case Rep; 2021 Jun 30; 14(6):. PubMed ID: 34193451
    [Abstract] [Full Text] [Related]

  • 12. Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing.
    Lu C, Zheng YC, Dong Y, Li HF.
    BMC Neurol; 2016 Sep 20; 16(1):179. PubMed ID: 27644330
    [Abstract] [Full Text] [Related]

  • 13. 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 20; 36(8):682-9. PubMed ID: 24183476
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  • 15.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Moreira MC, Koenig M.
    ; 1993 Sep 20. PubMed ID: 20301333
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  • 17. Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2).
    Becherel OJ, Fogel BL, Zeitlin SI, Samaratunga H, Greaney J, Homer H, Lavin MF.
    Cerebellum; 2019 Jun 20; 18(3):448-456. PubMed ID: 30778901
    [Abstract] [Full Text] [Related]

  • 18. Biallelic Mutation of SETX and Additional Likely "In Cis" SETX Sequence Change in Ataxia with Oculomotor Apraxia Type 2.
    Perry MD, Evans MJ, Byrd PJ, Taylor MR.
    J Pediatr Genet; 2021 Dec 20; 10(4):311-314. PubMed ID: 34849277
    [Abstract] [Full Text] [Related]

  • 19. "Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2).
    Schöls L, Arning L, Schüle R, Epplen JT, Timmann D.
    J Neurol; 2008 Apr 20; 255(4):495-501. PubMed ID: 18350359
    [Abstract] [Full Text] [Related]

  • 20. Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.
    Airoldi G, Guidarelli A, Cantoni O, Panzeri C, Vantaggiato C, Bonato S, Grazia D'Angelo M, Falcone S, De Palma C, Tonelli A, Crimella C, Bondioni S, Bresolin N, Clementi E, Bassi MT.
    Neurogenetics; 2010 Feb 20; 11(1):91-100. PubMed ID: 19593598
    [Abstract] [Full Text] [Related]

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