These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

121 related items for PubMed ID: 17486577

  • 1. 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; 36(3):384-6. PubMed ID: 17486577
    [Abstract] [Full Text] [Related]

  • 2. 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; 16(2):122-5. PubMed ID: 16427281
    [Abstract] [Full Text] [Related]

  • 3. The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.
    Irobi J, Van den Bergh P, Merlini L, Verellen C, Van Maldergem L, Dierick I, Verpoorten N, Jordanova A, Windpassinger C, De Vriendt E, Van Gerwen V, Auer-Grumbach M, Wagner K, Timmerman V, De Jonghe P.
    Brain; 2004 Sep; 127(Pt 9):2124-30. PubMed ID: 15242882
    [Abstract] [Full Text] [Related]

  • 4. 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; 36(3):271-6. PubMed ID: 14981520
    [Abstract] [Full Text] [Related]

  • 5. Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.
    Luigetti M, Fabrizi GM, Madia F, Ferrarini M, Conte A, Delgrande A, Tonali PA, Sabatelli M.
    Muscle Nerve; 2010 Sep; 42(3):448-51. PubMed ID: 20806400
    [Abstract] [Full Text] [Related]

  • 6. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
    Auer-Grumbach M, Schlotter-Weigel B, Lochmüller H, Strobl-Wildemann G, Auer-Grumbach P, Fischer R, Offenbacher H, Zwick EB, Robl T, Hartl G, Hartung HP, Wagner K, Windpassinger C, Austrian Peripheral Neuropathy Study Group.
    Ann Neurol; 2005 Mar; 57(3):415-24. PubMed ID: 15732094
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2.
    Chen B, Zheng R, Luan X, Zhang W, Wang Z, Yuan Y.
    Neuropathology; 2009 Oct 15; 29(5):543-7. PubMed ID: 19323790
    [Abstract] [Full Text] [Related]

  • 10. Seipinopathy: a novel endoplasmic reticulum stress-associated disease.
    Ito D, Suzuki N.
    Brain; 2009 Jan 15; 132(Pt 1):8-15. PubMed ID: 18790819
    [Abstract] [Full Text] [Related]

  • 11. BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature.
    Cen Z, Lu X, Wang Z, Ouyang Z, Xie F, Luo W.
    J Clin Neurosci; 2015 Feb 15; 22(2):429-30. PubMed ID: 25487175
    [Abstract] [Full Text] [Related]

  • 12. Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome.
    Miranda DM, Wajchenberg BL, Calsolari MR, Aguiar MJ, Silva JM, Ribeiro MG, Fonseca C, Amaral D, Boson WL, Resende BA, De Marco L.
    Clin Endocrinol (Oxf); 2009 Oct 15; 71(4):512-7. PubMed ID: 19226263
    [Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. Membrane topology of the human seipin protein.
    Lundin C, Nordström R, Wagner K, Windpassinger C, Andersson H, von Heijne G, Nilsson I.
    FEBS Lett; 2006 Apr 17; 580(9):2281-4. PubMed ID: 16574104
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 7.