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486 results

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Page 1
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.
Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Muntoni F, Flanigan KM, Mitchell CA, Bönnemann CG. Schessl J, et al. Among authors: goebel hh. J Clin Invest. 2008 Mar;118(3):904-12. doi: 10.1172/JCI34450. J Clin Invest. 2008. PMID: 18274675 Free PMC article.
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.
Schessl J, Taratuto AL, Sewry C, Battini R, Chin SS, Maiti B, Dubrovsky AL, Erro MG, Espada G, Robertella M, Saccoliti M, Olmos P, Bridges LR, Standring P, Hu Y, Zou Y, Swoboda KJ, Scavina M, Goebel HH, Mitchell CA, Flanigan KM, Muntoni F, Bönnemann CG. Schessl J, et al. Among authors: goebel hh. Brain. 2009 Feb;132(Pt 2):452-64. doi: 10.1093/brain/awn325. Epub 2009 Jan 29. Brain. 2009. PMID: 19181672 Free PMC article.
New variant of necklace fibres display peculiar lysosomal structures and mitophagy.
Rinnenthal JL, Dittmayer C, Irlbacher K, Wacker I, Schröder R, Goebel HH, Butori C, Villa L, Sacconi S, Stenzel W. Rinnenthal JL, et al. Among authors: goebel hh. Neuromuscul Disord. 2018 Oct;28(10):846-856. doi: 10.1016/j.nmd.2018.06.010. Epub 2018 Jul 2. Neuromuscul Disord. 2018. PMID: 30149909
Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies.
Strach K, Sommer T, Grohé C, Meyer C, Fischer D, Walter MC, Vorgerd M, Reilich P, Bär H, Reimann J, Reuner U, Germing A, Goebel HH, Lochmüller H, Wintersperger B, Schröder R. Strach K, et al. Among authors: goebel hh. Neuromuscul Disord. 2008 Jun;18(6):475-82. doi: 10.1016/j.nmd.2008.03.012. Epub 2008 May 27. Neuromuscul Disord. 2008. PMID: 18504128
Pipestem capillaries in necrotizing myopathy revisited.
Schröder NW, Goebel HH, Brandis A, Ladhoff AM, Heppner FL, Stenzel W. Schröder NW, et al. Among authors: goebel hh. Neuromuscul Disord. 2013 Jan;23(1):66-74. doi: 10.1016/j.nmd.2012.09.001. Epub 2012 Oct 25. Neuromuscul Disord. 2013. PMID: 23102899
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H. Cullup T, et al. Among authors: goebel hh. Nat Genet. 2013 Jan;45(1):83-7. doi: 10.1038/ng.2497. Epub 2012 Dec 9. Nat Genet. 2013. PMID: 23222957 Free PMC article.
Common Data Elements for Muscle Biopsy Reporting.
Dastgir J, Rutkowski A, Alvarez R, Cossette SA, Yan K, Hoffmann RG, Sewry C, Hayashi YK, Goebel HH, Bonnemann C, Lawlor MW. Dastgir J, et al. Among authors: goebel hh. Arch Pathol Lab Med. 2016 Jan;140(1):51-65. doi: 10.5858/arpa.2014-0453-OA. Epub 2015 Jul 1. Arch Pathol Lab Med. 2016. PMID: 26132600 Free PMC article.
486 results