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    Results: 1 to 20 of 62

    1.

    Prevalence study of genetically defined skeletal muscle channelopathies in England.

    Horga A, Raja Rayan DL, Matthews E, Sud R, Fialho D, Durran SC, Burge JA, Portaro S, Davis MB, Haworth A, Hanna MG.

    Neurology. 2013 Apr 16;80(16):1472-5. doi: 10.1212/WNL.0b013e31828cf8d0. Epub 2013 Mar 20.

    PMID:
    23516313
    [PubMed - indexed for MEDLINE]
    2.

    Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy.

    Chen TT, Klassen TL, Goldman AM, Marini C, Guerrini R, Noebels JL.

    Neurology. 2013 Mar 19;80(12):1078-85. doi: 10.1212/WNL.0b013e31828868e7. Epub 2013 Feb 13.

    PMID:
    23408874
    [PubMed - indexed for MEDLINE]
    3.

    New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics.

    Raheem O, Penttilä S, Suominen T, Kaakinen M, Burge J, Haworth A, Sud R, Schorge S, Haapasalo H, Sandell S, Metsikkö K, Hanna M, Udd B.

    Neurology. 2012 Nov 27;79(22):2194-200. doi: 10.1212/WNL.0b013e31827595e2. Epub 2012 Nov 14.

    PMID:
    23152584
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro.

    Ursu SF, Alekov A, Mao NH, Jurkat-Rott K.

    Acta Myol. 2012 Oct;31(2):144-53.

    PMID:
    23097607
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    5.

    Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1.

    Richman DP, Yu Y, Lee TT, Tseng PY, Yu WP, Maselli RA, Tang CY, Chen TY.

    Neuromolecular Med. 2012 Dec;14(4):328-37. doi: 10.1007/s12017-012-8190-1. Epub 2012 Jul 12.

    PMID:
    22790975
    [PubMed - indexed for MEDLINE]
    6.

    Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene.

    Du H, Grob SR, Zhao L, Lee J, El-Sahn M, Hughes G, Luo J, Schaf K, Duan Y, Quach J, Wei X, Shaw P, Granet D, Zhang K.

    Eye (Lond). 2012 Aug;26(8):1039-43. doi: 10.1038/eye.2012.80. Epub 2012 Jun 1.

    PMID:
    22653516
    [PubMed - indexed for MEDLINE]
    7.

    A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.

    Raja Rayan DL, Haworth A, Sud R, Matthews E, Fialho D, Burge J, Portaro S, Schorge S, Tuin K, Lunt P, McEntagart M, Toscano A, Davis MB, Hanna MG.

    Neurology. 2012 Jun 12;78(24):1953-8. doi: 10.1212/WNL.0b013e318259e19c. Epub 2012 May 30.

    PMID:
    22649220
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    8.

    Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita.

    Weinberger S, Wojciechowski D, Sternberg D, Lehmann-Horn F, Jurkat-Rott K, Becher T, Begemann B, Fahlke C, Fischer M.

    J Physiol. 2012 Aug 1;590(Pt 15):3449-64. doi: 10.1113/jphysiol.2012.232785. Epub 2012 May 28.

    PMID:
    22641783
    [PubMed - indexed for MEDLINE]
    9.

    Myotonia associated with caveolin-3 mutation.

    Milone M, McEvoy KM, Sorenson EJ, Daube JR.

    Muscle Nerve. 2012 Jun;45(6):897-900. doi: 10.1002/mus.23270.

    PMID:
    22581547
    [PubMed - indexed for MEDLINE]
    10.

    Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.

    Ulzi G, Lecchi M, Sansone V, Redaelli E, Corti E, Saccomanno D, Pagliarani S, Corti S, Magri F, Raimondi M, D'Angelo G, Modoni A, Bresolin N, Meola G, Wanke E, Comi GP, Lucchiari S.

    J Neurol Sci. 2012 Jul 15;318(1-2):65-71. doi: 10.1016/j.jns.2012.03.024. Epub 2012 Apr 21.

    PMID:
    22521272
    [PubMed - indexed for MEDLINE]
    11.

    Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype.

    Gurgel-Giannetti J, Senkevics AS, Zilbersztajn-Gotlieb D, Yamamoto LU, Muniz VP, Pavanello RC, Oliveira AB, Zatz M, Vainzof M.

    Muscle Nerve. 2012 Feb;45(2):279-83. doi: 10.1002/mus.22252.

    PMID:
    22246887
    [PubMed - indexed for MEDLINE]
    12.

    A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris.

    Zielonka D, Jurkat-Rott K, Stachowiak P, Bryl A, Marcinkowski JT, Lehmann-Horn F.

    Neuromuscul Disord. 2012 Apr;22(4):355-60. doi: 10.1016/j.nmd.2011.10.024. Epub 2011 Dec 23.

    PMID:
    22197187
    [PubMed - indexed for MEDLINE]
    13.

    A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.

    Lehmann-Horn F, Orth M, Kuhn M, Jurkat-Rott K.

    Acta Myol. 2011 Oct;30(2):133-7.

    PMID:
    22106717
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    14.

    Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.

    Mazón MJ, Barros F, De la Peña P, Quesada JF, Escudero A, Cobo AM, Pascual-Pascual SI, Gutiérrez-Rivas E, Guillén E, Arpa J, Eraso P, Portillo F, Molano J.

    Neuromuscul Disord. 2012 Mar;22(3):231-43. doi: 10.1016/j.nmd.2011.10.013. Epub 2011 Nov 16.

    PMID:
    22094069
    [PubMed - indexed for MEDLINE]
    15.

    Novel insights into the pathomechanisms of skeletal muscle channelopathies.

    Burge JA, Hanna MG.

    Curr Neurol Neurosci Rep. 2012 Feb;12(1):62-9. doi: 10.1007/s11910-011-0238-3. Review.

    PMID:
    22083238
    [PubMed - indexed for MEDLINE]
    16.

    A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization.

    Tsujino A, Kaibara M, Hayashi H, Eguchi H, Nakayama S, Sato K, Fukuda T, Tateishi Y, Shirabe S, Taniyama K, Kawakami A.

    Neurosci Lett. 2011 Apr 25;494(2):155-60. doi: 10.1016/j.neulet.2011.03.002. Epub 2011 Mar 6.

    PMID:
    21385601
    [PubMed - indexed for MEDLINE]
    17.

    Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland.

    Suominen T, Bachinski LL, Auvinen S, Hackman P, Baggerly KA, Angelini C, Peltonen L, Krahe R, Udd B.

    Eur J Hum Genet. 2011 Jul;19(7):776-82. doi: 10.1038/ejhg.2011.23. Epub 2011 Mar 2.

    PMID:
    21364698
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    18.

    Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy.

    Machuca-Tzili LE, Buxton S, Thorpe A, Timson CM, Wigmore P, Luther PK, Brook JD.

    Dis Model Mech. 2011 May;4(3):381-92. doi: 10.1242/dmm.004150. Epub 2011 Feb 8.

    PMID:
    21303839
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    19.

    Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita.

    Modoni A, D'Amico A, Dallapiccola B, Mereu ML, Merlini L, Pagliarani S, Pisaneschi E, Silvestri G, Torrente I, Valente EM, Lo Monaco M.

    J Clin Neurophysiol. 2011 Feb;28(1):39-44. doi: 10.1097/WNP.0b013e31820510d7.

    PMID:
    21221019
    [PubMed - indexed for MEDLINE]
    20.

    Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.

    Sun C, Van Ghelue M, Tranebjærg L, Thyssen F, Nilssen Ø, Torbergsen T.

    Clin Genet. 2011 Dec;80(6):574-80. doi: 10.1111/j.1399-0004.2010.01616.x. Epub 2011 Jan 19.

    PMID:
    21204798
    [PubMed - indexed for MEDLINE]

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