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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

256 related items for PubMed ID: 17663003

  • 1. 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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  • 4. The distal hereditary motor neuropathies.
    Rossor AM, Kalmar B, Greensmith L, Reilly MM.
    J Neurol Neurosurg Psychiatry; 2012 Jan 15; 83(1):6-14. PubMed ID: 22028385
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  • 6. 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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  • 7. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
    Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K.
    Nat Genet; 2004 Mar 18; 36(3):271-6. PubMed ID: 14981520
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  • 9. Clinical features of inherited neuropathy with BSCL2 mutations in Japan.
    Ishihara S, Okamoto Y, Tanabe H, Yoshimura A, Higuchi Y, Yuan JH, Hashiguchi A, Ishiura H, Mitsui J, Suwazono S, Oya Y, Sasaki M, Nakagawa M, Tsuji S, Ohya Y, Takashima H.
    J Peripher Nerv Syst; 2020 Jun 18; 25(2):125-131. PubMed ID: 32108980
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  • 11. N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.
    Rakocević-Stojanović V, Milić-Rasić V, Perić S, Baets J, Timmerman V, Dierick I, Pavlović S, De Jonghe P.
    J Neurol Sci; 2010 Sep 15; 296(1-2):107-9. PubMed ID: 20598714
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  • 12. Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy.
    Cho HJ, Sung DH, Ki CS.
    Muscle Nerve; 2007 Sep 15; 36(3):384-6. PubMed ID: 17486577
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  • 13. BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.
    van de Warrenburg BP, Scheffer H, van Eijk JJ, Versteeg MH, Kremer H, Zwarts MJ, Schelhaas HJ, van Engelen BG.
    Neuromuscul Disord; 2006 Feb 15; 16(2):122-5. PubMed ID: 16427281
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  • 16. The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation.
    Cafforio G, Calabrese R, Morelli N, Mancuso M, Piazza S, Martinuzzi A, Bassi MT, Crippa F, Siciliano G.
    Neurol Sci; 2008 Jun 15; 29(3):189-91. PubMed ID: 18612770
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  • 19. Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy.
    Solla P, Vannelli A, Bolino A, Marrosu G, Coviello S, Murru MR, Tranquilli S, Corongiu D, Benedetti S, Marrosu MG.
    J Neurol Neurosurg Psychiatry; 2010 Sep 15; 81(9):958-62. PubMed ID: 20660910
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