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    Carla Grosmann

    Address9500 Gilman Drive #0984
    CA La Jolla 92093
    Phone858-966-5819
    vCardDownload vCard

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      Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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      1. Fraser KL, Wong S, Foley AR, Chhibber S, Bönnemann CG, Lesser DJ, Grosmann C, Rutkowski A. Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management. ERJ Open Res. 2017 Apr; 3(2). PMID: 28660205.
        View in: PubMed
      2. Chagarlamudi H, Corbett A, Stoll M, Bibat G, Grosmann C, Matichak Stock C, Stinson N, Shapiro J, Wagner KR. Bone health in facioscapulohumeral muscular dystrophy: A cross-sectional study. Muscle Nerve. 2017 Feb 18. PMID: 28214289.
        View in: PubMed
      3. Eichinger K, Heatwole C, Heininger S, Stinson N, Matichak Stock C, Grosmann C, Wagner KR, Tawil R, Statland JM. Validity of the 6 minute walk test in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2017 Mar; 55(3):333-337. PMID: 27421252.
        View in: PubMed
      4. Chesler AT, Szczot M, Bharucha-Goebel D, Ceko M, Donkervoort S, Laubacher C, Hayes LH, Alter K, Zampieri C, Stanley C, Innes AM, Mah JK, Grosmann C, Bradley N, Nguyen D, Foley AR, Le Pichon CE, Bönnemann CG. The Role of PIEZO2 in Human Mechanosensation. N Engl J Med. 2016 10 06; 375(14):1355-1364. PMID: 27653382.
        View in: PubMed
      5. Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann C, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ, Lin YY, Muntoni F. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of a-dystroglycan. Am J Hum Genet. 2013 Jul 11; 93(1):29-41. PMID: 23768512; PMCID: PMC3710768.
      6. Scharner J, Brown CA, Bower M, Iannaccone ST, Khatri IA, Escolar D, Gordon E, Felice K, Crowe CA, Grosmann C, Meriggioli MN, Asamoah A, Gordon O, Gnocchi VF, Ellis JA, Mendell JR, Zammit PS. Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. Hum Mutat. 2011 Feb; 32(2):152-67. PMID: 20848652.
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      7. Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE. Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. Am J Med Genet. 2001 Sep 01; 102(4):359-67. PMID: 11503164.
        View in: PubMed
      8. Golbe LI, Rubin RS, Cody RP, Belsh JM, Duvoisin RC, Grosmann C, Lepore FE, Mark MH, Sachdeo RC, Sage JI, Zimmerman TR. Follow-up study of risk factors in progressive supranuclear palsy. Neurology. 1996 Jul; 47(1):148-54. PMID: 8710069.
        View in: PubMed
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