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Journal Abstract Search

561 related items for PubMed ID: 25070513

  • 1. 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; 137(Pt 10):2657-63. PubMed ID: 25070513
    [Abstract] [Full Text] [Related]

  • 2. Spinocerebellar ataxia type 21 exists in the Chinese Han population.
    Zeng S, Zeng J, He M, Zeng X, Zhou Y, Liu Z, Xia K, Pan Q, Jiang H, Shen L, Yan X, Tang B, Wang J.
    Sci Rep; 2016 Jan 27; 6():19897. PubMed ID: 26813285
    [Abstract] [Full Text] [Related]

  • 3. A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies.
    Yahikozawa H, Miyatake S, Sakai T, Uehara T, Yamada M, Hanyu N, Futatsugi Y, Doi H, Koyano S, Tanaka F, Suzuki A, Matsumoto N, Yoshida K.
    Cerebellum; 2018 Oct 27; 17(5):525-530. PubMed ID: 29687291
    [Abstract] [Full Text] [Related]

  • 4. Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.
    Stevanin G, Hahn V, Lohmann E, Bouslam N, Gouttard M, Soumphonphakdy C, Welter ML, Ollagnon-Roman E, Lemainque A, Ruberg M, Brice A, Durr A.
    Arch Neurol; 2004 Aug 27; 61(8):1242-8. PubMed ID: 15313841
    [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. The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families.
    Davarniya B, Hu H, Kahrizi K, Musante L, Fattahi Z, Hosseini M, Maqsoud F, Farajollahi R, Wienker TF, Ropers HH, Najmabadi H.
    PLoS One; 2015 Aug 15; 10(8):e0129631. PubMed ID: 26308914
    [Abstract] [Full Text] [Related]

  • 7. A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21.
    Riso V, Galatolo D, Barghigiani M, Galosi S, Tessa A, Ricca I, Rossi S, Caputi C, Cioffi E, Leuzzi V, Casali C, Santorelli FM, Silvestri G.
    Eur J Neurol; 2021 Aug 15; 28(8):2784-2788. PubMed ID: 33851480
    [Abstract] [Full Text] [Related]

  • 8. A novel GBA2 gene missense mutation in spastic ataxia.
    Votsi C, Zamba-Papanicolaou E, Middleton LT, Pantzaris M, Christodoulou K.
    Ann Hum Genet; 2014 Jan 15; 78(1):13-22. PubMed ID: 24252062
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 60(7):982-8. PubMed ID: 12873855
    [Abstract] [Full Text] [Related]

  • 10. A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.
    Ozaki K, Doi H, Mitsui J, Sato N, Iikuni Y, Majima T, Yamane K, Irioka T, Ishiura H, Doi K, Morishita S, Higashi M, Sekiguchi T, Koyama K, Ueda N, Miura Y, Miyatake S, Matsumoto N, Yokota T, Tanaka F, Tsuji S, Mizusawa H, Ishikawa K.
    JAMA Neurol; 2015 Jul 15; 72(7):797-805. PubMed ID: 26010696
    [Abstract] [Full Text] [Related]

  • 11. Mutations in KCND3 cause spinocerebellar ataxia type 22.
    Lee YC, Durr A, Majczenko K, Huang YH, Liu YC, Lien CC, Tsai PC, Ichikawa Y, Goto J, Monin ML, Li JZ, Chung MY, Mundwiller E, Shakkottai V, Liu TT, Tesson C, Lu YC, Brice A, Tsuji S, Burmeister M, Stevanin G, Soong BW.
    Ann Neurol; 2012 Dec 15; 72(6):859-69. PubMed ID: 23280837
    [Abstract] [Full Text] [Related]

  • 12. Spinocerebellar ataxia 13 and 25.
    Stevanin G, Dürr A.
    Handb Clin Neurol; 2012 Dec 15; 103():549-53. PubMed ID: 21827913
    [Abstract] [Full Text] [Related]

  • 13. Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.
    Hiramoto K, Kawakami H, Inoue K, Seki T, Maruyama H, Morino H, Matsumoto M, Kurisu K, Sakai N.
    Mov Disord; 2006 Sep 15; 21(9):1355-60. PubMed ID: 16763984
    [Abstract] [Full Text] [Related]

  • 14. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.
    Wang JL, Yang X, Xia K, Hu ZM, Weng L, Jin X, Jiang H, Zhang P, Shen L, Guo JF, Li N, Li YR, Lei LF, Zhou J, Du J, Zhou YF, Pan Q, Wang J, Wang J, Li RQ, Tang BS.
    Brain; 2010 Dec 15; 133(Pt 12):3510-8. PubMed ID: 21106500
    [Abstract] [Full Text] [Related]

  • 15. Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.
    Cadieux-Dion M, Turcotte-Gauthier M, Noreau A, Martin C, Meloche C, Gravel M, Drouin CA, Rouleau GA, Nguyen DK, Cossette P.
    JAMA Neurol; 2014 Apr 15; 71(4):470-5. PubMed ID: 24566826
    [Abstract] [Full Text] [Related]

  • 16. GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.
    Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle MA, Milh M, Toutain A, Bacq D, Meyer V, Afenjar A, Deleuze JF, Brice A, Héron D, Stevanin G, Durr A.
    Neurology; 2015 Apr 28; 84(17):1751-9. PubMed ID: 25841024
    [Abstract] [Full Text] [Related]

  • 17. The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.
    Traschütz A, van Gaalen J, Oosterloo M, Vreeburg M, Kamsteeg EJ, Deininger N, Rieß O, Reimold M, Haack T, Schöls L, van de Warrenburg BP, Synofzik M.
    Parkinsonism Relat Disord; 2019 May 28; 62():215-220. PubMed ID: 30522958
    [Abstract] [Full Text] [Related]

  • 18. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1.
    Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, Scheufler K, Riley B, Allotey R, Nothers C.
    Nat Genet; 1993 Jul 28; 4(3):295-9. PubMed ID: 8358438
    [Abstract] [Full Text] [Related]

  • 19. Infantile onset spinocerebellar ataxia represents an allelic disease distinct from other hereditary ataxias.
    Nikali K, Koskinen T, Suomalainen A, Pihko H, Peltonen L.
    Pediatr Res; 1994 Nov 28; 36(5):607-12. PubMed ID: 7877879
    [Abstract] [Full Text] [Related]

  • 20. The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals.
    Homa M, Loyens A, Eddarkaoui S, Faivre E, Deramecourt V, Maurage CA, Buée L, Huin V, Sablonnière B.
    Cerebellum; 2020 Jun 28; 19(3):358-369. PubMed ID: 32002801
    [Abstract] [Full Text] [Related]

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