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    Results: 1 to 20 of 104

    1.

    Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.

    Craig K, Elliott HR, Keers SM, Lambert C, Pyle A, Graves TD, Woodward C, Sweeney MG, Davis MB, Hanna MG, Chinnery PF.

    J Med Genet. 2007 Dec;44(12):797-9.PMID: 18055910 [PubMed - indexed for MEDLINE]Related articles

    2.

    Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.

    Rantamäki MT, Soini HK, Finnilä SM, Majamaa K, Udd B.

    Ann Neurol. 2005 Aug;58(2):337-40.PMID: 16049925 [PubMed - indexed for MEDLINE]Related articles

    3.

    Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan.

    Lee YC, Lu YC, Chang MH, Soong BW.

    J Neurol Sci. 2007 Mar 15;254(1-2):65-8. Epub 2007 Feb 14.PMID: 17300808 [PubMed - indexed for MEDLINE]Related articles

    4.

    POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease.

    Harrower T, Stewart JD, Hudson G, Houlden H, Warner G, O'Donovan DG, Findlay LJ, Taylor RW, De Silva R, Chinnery PF.

    Arch Neurol. 2008 Jan;65(1):133-6.PMID: 18195151 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    Charcot-Marie-Tooth disease and related inherited neuropathies.

    Murakami T, Garcia CA, Reiter LT, Lupski JR.

    Medicine (Baltimore). 1996 Sep;75(5):233-50. Review.PMID: 8862346 [PubMed - indexed for MEDLINE]Related articles

    6.

    Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993.

    Baracca A, Sgarbi G, Mattiazzi M, Casalena G, Pagnotta E, Valentino ML, Moggio M, Lenaz G, Carelli V, Solaini G.

    Biochim Biophys Acta. 2007 Jul;1767(7):913-9. Epub 2007 May 18.PMID: 17568559 [PubMed - indexed for MEDLINE]Related articles

    7.

    [Molecular genetics of inherited neuropathies]

    Takashima H.

    Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese. PMID: 16541790 [PubMed - indexed for MEDLINE]Related articles

    8.

    Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.

    Tang B, Liu X, Zhao G, Luo W, Xia K, Pan Q, Cai F, Hu Z, Zhang C, Chen B, Zhang F, Shen L, Zhang R, Jiang H.

    Arch Neurol. 2005 Aug;62(8):1201-7.PMID: 16087758 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein.

    López-Gallardo E, Solano A, Herrero-Martín MD, Martínez-Romero I, Castaño-Pérez MD, Andreu AL, Herrera A, López-Pérez MJ, Ruiz-Pesini E, Montoya J.

    J Med Genet. 2009 Jan;46(1):64-7.PMID: 19124644 [PubMed - indexed for MEDLINE]Related articles

    10.

    [Hereditary neuropathy with liability to pressure palsies]

    Smith TA, Rasmussen K, Hertz JM.

    Ugeskr Laeger. 1999 Jun 7;161(23):3463-5. Danish. PMID: 10388355 [PubMed - indexed for MEDLINE]Related articles

    11.

    [Aberrance analysis of mitochondrial DNA in a family with hereditary ataxia in Guangxi province]

    Wang J, Liu HH, Luo SG.

    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Jun;23(3):323-5. Chinese. PMID: 16767675 [PubMed - indexed for MEDLINE]Related articles

    12.

    Hereditary disorders of the nervous system from anatomo-clinical studies to molecular biology.

    Martin JJ.

    Acta Neurol Belg. 1996 Sep;96(3):240-6.PMID: 8886111 [PubMed - indexed for MEDLINE]Related articles

    13.

    Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.

    de Vries B, Mamsa H, Stam AH, Wan J, Bakker SL, Vanmolkot KR, Haan J, Terwindt GM, Boon EM, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AM.

    Arch Neurol. 2009 Jan;66(1):97-101. Erratum in: Arch Neurol. 2009 Apr;66(4):497. Arch Neurol. 2009 Jun;66(6):772. PMID: 19139306 [PubMed - indexed for MEDLINE]Related articles

    14.

    Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome.

    Steffann J, Gigarel N, Corcos J, Bonnière M, Encha-Razavi F, Sinico M, Prevot S, Dumez Y, Yamgnane A, Frydman R, Munnich A, Bonnefont JP.

    J Med Genet. 2007 Oct;44(10):664-9. Epub 2007 Jun 1.PMID: 17545557 [PubMed - indexed for MEDLINE]Related articles

    15.

    Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

    Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, Hilton-Jones D, Talbot K, Martin JJ, Vasserman N, Tverskaya S, Polyakov A, Liem RK, Gettemans J, Robberecht W, De Jonghe P, Timmerman V.

    Nat Genet. 2004 Jun;36(6):602-6. Epub 2004 May 2.PMID: 15122254 [PubMed - indexed for MEDLINE]Related articles

    16.

    A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy.

    Santoro L, Manganelli F, Lanzillo R, Tessa A, Barbieri F, Pierelli F, Di Giacinto G, Nigro V, Santorelli FM.

    J Neurol. 2006 Jul;253(7):869-74. Epub 2006 May 24.PMID: 16715201 [PubMed - indexed for MEDLINE]Related articles

    17.

    Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

    Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA.

    Neurology. 2005 Apr 12;64(7):1204-8.PMID: 15824347 [PubMed - indexed for MEDLINE]Related articles

    18.

    Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.

    Childs AM, Hutchin T, Pysden K, Highet L, Bamford J, Livingston J, Crow YJ.

    Neuropediatrics. 2007 Dec;38(6):313-6.PMID: 18461509 [PubMed - indexed for MEDLINE]Related articles

    19.

    Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.

    Milone M, Brunetti-Pierri N, Tang LY, Kumar N, Mezei MM, Josephs K, Powell S, Simpson E, Wong LJ.

    Neuromuscul Disord. 2008 Aug;18(8):626-32. Epub 2008 Jun 27.PMID: 18585914 [PubMed - indexed for MEDLINE]Related articles

    20.

    The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study.

    Hammans SR, Sweeney MG, Hanna MG, Brockington M, Morgan-Hughes JA, Harding AE.

    Brain. 1995 Jun;118 ( Pt 3):721-34.PMID: 7600089 [PubMed - indexed for MEDLINE]Related articles

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