These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

237 related items for PubMed ID: 23786967

  • 1. 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]

  • 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 15; 21(4):241-5. PubMed ID: 23111195
    [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 15; 54(12):746-8. PubMed ID: 19893583
    [Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8. TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
    Delplanque J, Devos D, Huin V, Genet A, Sand O, Moreau C, Goizet C, Charles P, Anheim M, Monin ML, Buée L, Destée A, Grolez G, Delmaire C, Dujardin K, Dellacherie D, Brice A, Stevanin G, Strubi-Vuillaume I, Dürr A, Sablonnière B.
    Brain; 2014 Oct 15; 137(Pt 10):2657-63. PubMed ID: 25070513
    [Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. 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]

  • 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. "Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2).
    Schöls L, Arning L, Schüle R, Epplen JT, Timmann D.
    J Neurol; 2008 Apr 14; 255(4):495-501. PubMed ID: 18350359
    [Abstract] [Full Text] [Related]

  • 13. 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 14; 72(8):1715-1723. PubMed ID: 35676594
    [Abstract] [Full Text] [Related]

  • 14. 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 14; 128():44-6. PubMed ID: 25462094
    [No Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. 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 14; 18(5):700-1. PubMed ID: 22341623
    [No Abstract] [Full Text] [Related]

  • 17. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.
    El Euch-Fayache G, Lalani I, Amouri R, Turki I, Ouahchi K, Hung WY, Belal S, Siddique T, Hentati F.
    Arch Neurol; 2003 Jul 14; 60(7):982-8. PubMed ID: 12873855
    [Abstract] [Full Text] [Related]

  • 18. 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 14; 65(7):958-62. PubMed ID: 18625865
    [Abstract] [Full Text] [Related]

  • 19. 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 Jul 14; 15():1019974. PubMed ID: 36438189
    [Abstract] [Full Text] [Related]

  • 20. 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]

    Page: [Next] [New Search]
    of 12.