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2009 1
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Page 1
BAG3-related myofibrillar myopathy in a Chinese family.
Lee HC, Cherk SW, Chan SK, Wong S, Tong TW, Ho WS, Chan AY, Lee KC, Mak CM. Lee HC, et al. Clin Genet. 2012 Apr;81(4):394-8. doi: 10.1111/j.1399-0004.2011.01659.x. Epub 2011 Apr 4. Clin Genet. 2012. PMID: 21361913
BAG3 mutations: another cause of giant axonal neuropathy.
Jaffer F, Murphy SM, Scoto M, Healy E, Rossor AM, Brandner S, Phadke R, Selcen D, Jungbluth H, Muntoni F, Reilly MM. Jaffer F, et al. J Peripher Nerv Syst. 2012 Jun;17(2):210-6. doi: 10.1111/j.1529-8027.2012.00409.x. J Peripher Nerv Syst. 2012. PMID: 22734908
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.
Semmler AL, Sacconi S, Bach JE, Liebe C, Bürmann J, Kley RA, Ferbert A, Anderheiden R, Van den Bergh P, Martin JJ, De Jonghe P, Neuen-Jacob E, Müller O, Deschauer M, Bergmann M, Schröder JM, Vorgerd M, Schulz JB, Weis J, Kress W, Claeys KG. Semmler AL, et al. Orphanet J Rare Dis. 2014 Aug 1;9:121. doi: 10.1186/s13023-014-0121-9. Orphanet J Rare Dis. 2014. PMID: 25208129 Free PMC article.
BAG3 myofibrillar myopathy presenting with cardiomyopathy.
Konersman CG, Bordini BJ, Scharer G, Lawlor MW, Zangwill S, Southern JF, Amos L, Geddes GC, Kliegman R, Collins MP. Konersman CG, et al. Neuromuscul Disord. 2015 May;25(5):418-22. doi: 10.1016/j.nmd.2015.01.009. Epub 2015 Feb 4. Neuromuscul Disord. 2015. PMID: 25728519
BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome.
Kostera-Pruszczyk A, Suszek M, Płoski R, Franaszczyk M, Potulska-Chromik A, Pruszczyk P, Sadurska E, Karolczak J, Kamińska AM, Rędowicz MJ. Kostera-Pruszczyk A, et al. J Muscle Res Cell Motil. 2015 Dec;36(6):423-32. doi: 10.1007/s10974-015-9431-3. Epub 2015 Nov 6. J Muscle Res Cell Motil. 2015. PMID: 26545904 Free PMC article.
Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.
D'Avila F, Meregalli M, Lupoli S, Barcella M, Orro A, De Santis F, Sitzia C, Farini A, D'Ursi P, Erratico S, Cristofani R, Milanesi L, Braga D, Cusi D, Poletti A, Barlassina C, Torrente Y. D'Avila F, et al. J Muscle Res Cell Motil. 2016 Jun;37(3):101-15. doi: 10.1007/s10974-016-9451-7. Epub 2016 Jul 21. J Muscle Res Cell Motil. 2016. PMID: 27443559 Free PMC article.
12 results