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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

320 related items for PubMed ID: 18832141

  • 1. Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2.
    Houlden H, Laura M, Wavrant-De Vrièze F, Blake J, Wood N, Reilly MM.
    Neurology; 2008 Nov 18; 71(21):1660-8. PubMed ID: 18832141
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  • 2. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
    Rohkamm B, Reilly MM, Lochmüller H, Schlotter-Weigel B, Barisic N, Schöls L, Nicholson G, Pareyson D, Laurà M, Janecke AR, Miltenberger-Miltenyi G, John E, Fischer C, Grill F, Wakeling W, Davis M, Pieber TR, Auer-Grumbach M.
    J Neurol Sci; 2007 Dec 15; 263(1-2):100-6. PubMed ID: 17663003
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  • 3. HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.
    Capponi S, Geroldi A, Fossa P, Grandis M, Ciotti P, Gulli R, Schenone A, Mandich P, Bellone E.
    J Peripher Nerv Syst; 2011 Dec 15; 16(4):287-94. PubMed ID: 22176143
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  • 8. 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 15; 36(6):602-6. PubMed ID: 15122254
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  • 9. A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family.
    Amornvit J, Yalvac ME, Chen L, Sahenk Z.
    Brain Behav; 2017 Aug 15; 7(8):e00774. PubMed ID: 28828227
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  • 10. Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.
    Abati E, Magri S, Meneri M, Manenti G, Velardo D, Balistreri F, Pisciotta C, Saveri P, Bresolin N, Comi GP, Ronchi D, Pareyson D, Taroni F, Corti S.
    Ann Clin Transl Neurol; 2021 May 15; 8(5):1158-1164. PubMed ID: 33943041
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  • 16. A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2.
    Rossor AM, Davidson GL, Blake J, Polke JM, Murphy SM, Houlden H, Innes A, Kalmar B, Greensmith L, Reilly MM.
    J Peripher Nerv Syst; 2012 Jun 15; 17(2):201-5. PubMed ID: 22734906
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  • 18. Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation.
    Chung KW, Kim SB, Cho SY, Hwang SJ, Park SW, Kang SH, Kim J, Yoo JH, Choi BO.
    Exp Mol Med; 2008 Jun 30; 40(3):304-12. PubMed ID: 18587268
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  • 19. [Genetic distribution in Chinese patients with hereditary peripheral neuropathy].
    Liu XX, Duan XH, Zhang S, Sun AP, Zhang YS, Fan DS.
    Beijing Da Xue Xue Bao Yi Xue Ban; 2022 Oct 18; 54(5):874-883. PubMed ID: 36241230
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