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Genet."},{"key":"key\n\t\t\t\t20170522140616_DDN234C69","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1093\/hmg\/ddh153","article-title":"Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro","volume":"13","author":"Kramerova","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522140616_DDN234C70","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/S0960-8966(01)00197-3","article-title":"Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy","volume":"11","author":"Chae","year":"2001","journal-title":"Neuromuscul. Disord."},{"key":"key\n\t\t\t\t20170522140616_DDN234C71","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1161\/01.RES.82.1.94","article-title":"Altered expression of tropomodulin in cardiomyocytes disrupts the sarcomeric structure of myofibrils","volume":"82","author":"Sussman","year":"1998","journal-title":"Circ. Res."},{"key":"key\n\t\t\t\t20170522140616_DDN234C72","doi-asserted-by":"crossref","first-page":"1581","DOI":"10.1016\/S0002-9440(10)62542-4","article-title":"Lack of cytosolic and transmembrane domains of type XIII collagen results in progressive myopathy","volume":"159","author":"Kvist","year":"2001","journal-title":"Am. J. Pathol."},{"key":"key\n\t\t\t\t20170522140616_DDN234C73","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.yjmcc.2007.04.005","article-title":"Kruppel-like Factors (KLFs) in muscle biology","volume":"43","author":"Haldar","year":"2007","journal-title":"J. Mol. Cell. Cardiol."},{"key":"key\n\t\t\t\t20170522140616_DDN234C74","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1111\/j.1399-0004.1990.tb03553.x","article-title":"Spinal muscular atrophy type I combined with atrial septal defect in three sibs","volume":"38","author":"Moller","year":"1990","journal-title":"Clin. Genet."},{"key":"key\n\t\t\t\t20170522140616_DDN234C75","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1055\/s-2007-973805","article-title":"Spinal muscular atrophy combined with congenital heart disease: a report of two cases","volume":"27","author":"Mulleners","year":"1996","journal-title":"Neuropediatrics"},{"key":"key\n\t\t\t\t20170522140616_DDN234C76","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1212\/WNL.51.3.878","article-title":"Large-scale deletions in a Chinese infant associated with a variant form of Werdnig-Hoffmann disease","volume":"51","author":"Jong","year":"1998","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170522140616_DDN234C77","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1007\/s00431-004-1437-6","article-title":"Spinal muscle atrophy type 1 (Werdnig-Hoffman disease) with complex cardiac malformation","volume":"163","author":"El-Matary","year":"2004","journal-title":"Eur. J. Pediatr."},{"key":"key\n\t\t\t\t20170522140616_DDN234C78","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1017\/S1047951105002131","article-title":"An infant with hypoplastic left heart syndrome and spinal muscular atrophy","volume":"16","author":"Cook","year":"2006","journal-title":"Cardiol. Young"},{"key":"key\n\t\t\t\t20170522140616_DDN234C79","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1177\/0883073807299954","article-title":"Neonatal spinal muscular atrophy type 1 with bone fractures and heart defect","volume":"22","author":"Vaidla","year":"2007","journal-title":"J. Child Neurol."},{"key":"key\n\t\t\t\t20170522140616_DDN234C80","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1002\/ajmg.a.32233","article-title":"Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature","volume":"146A","author":"Menke","year":"2008","journal-title":"Am. J. Med. Genet. A."},{"key":"key\n\t\t\t\t20170522140616_DDN234C81","doi-asserted-by":"crossref","first-page":"37139","DOI":"10.1074\/jbc.M504106200","article-title":"Nuclear import of {alpha}B-crystallin is phosphorylation-dependent and hampered by hyperphosphorylation of the myopathy-related mutant R120G","volume":"280","author":"den Engelsman","year":"2005","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522140616_DDN234C82","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1007\/s00109-005-0033-1","article-title":"The sarcomeric Z-disc: a nodal point in signalling and disease","volume":"84","author":"Frank","year":"2006","journal-title":"J. Mol. Med."},{"key":"key\n\t\t\t\t20170522140616_DDN234C83","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1161\/01.RES.0000116143.74830.A9","article-title":"At the crossroads of myocardial signaling: the role of Z-discs in intracellular signaling and cardiac function","volume":"94","author":"Pyle","year":"2004","journal-title":"Circ. Res."},{"key":"key\n\t\t\t\t20170522140616_DDN234C84","doi-asserted-by":"crossref","first-page":"13930","DOI":"10.1073\/pnas.0704915104","article-title":"Structural insights into the interaction of the evolutionarily conserved ZPR1 domain tandem with eukaryotic EF1A, receptors, and SMN complexes","volume":"104","author":"Mishra","year":"2007","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522140616_DDN234C85","doi-asserted-by":"crossref","first-page":"2744","DOI":"10.1128\/MCB.25.7.2744-2756.2005","article-title":"ZPR1 is essential for survival and is required for localization of the survival motor neurons (SMN) protein to Cajal bodies","volume":"25","author":"Gangwani","year":"2005","journal-title":"Mol. Cell. Biol."},{"key":"key\n\t\t\t\t20170522140616_DDN234C86","doi-asserted-by":"crossref","first-page":"7471","DOI":"10.1073\/pnas.0602057103","article-title":"Deficiency of the zinc finger protein ZPR1 causes neurodegeneration","volume":"103","author":"Doran","year":"2006","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522140616_DDN234C87","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1242\/jcs.107.3.377","article-title":"Rearrangement of mRNAs for costamere proteins during costamere development in cultured skeletal muscle from chicken","volume":"107","author":"Morris","year":"1994","journal-title":"J. Cell Sci."},{"key":"key\n\t\t\t\t20170522140616_DDN234C88","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1042\/BC20040063","article-title":"How and why does beta-actin mRNA target?","volume":"97","author":"Condeelis","year":"2005","journal-title":"Biol. Cell."},{"key":"key\n\t\t\t\t20170522140616_DDN234C89","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1093\/bfgp\/3.3.240","article-title":"Zipcodes and postage stamps: mRNA localisation signals and their trans-acting binding proteins","volume":"3","author":"Chabanon","year":"2004","journal-title":"Brief. Funct. Genomic. Proteomic."},{"key":"key\n\t\t\t\t20170522140616_DDN234C90","doi-asserted-by":"crossref","first-page":"5017","DOI":"10.1093\/nar\/gkf656","article-title":"The 3\u2019 untranslated region of human vimentin mRNA interacts with protein complexes containing eEF-1gamma and HAX-1","volume":"30","author":"Al-Maghrebi","year":"2002","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t20170522140616_DDN234C91","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1038\/sj.emboj.7601952","article-title":"Cooperative control of striated muscle mass and metabolism by MuRF1 and MuRF2","volume":"27","author":"Witt","year":"2008","journal-title":"EMBO J."},{"key":"key\n\t\t\t\t20170522140616_DDN234C92","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/1471-213X-6-3","article-title":"m-Calpain is required for preimplantation embryonic development in mice","volume":"6","author":"Dutt","year":"2006","journal-title":"BMC Dev. Biol."},{"key":"key\n\t\t\t\t20170522140616_DDN234C93","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1080\/15216540050176610","article-title":"The calpain small subunit gene is essential: its inactivation results in embryonic lethality","volume":"50","author":"Zimmerman","year":"2000","journal-title":"IUBMB Life"},{"key":"key\n\t\t\t\t20170522140616_DDN234C94","doi-asserted-by":"crossref","first-page":"4474","DOI":"10.1128\/MCB.20.12.4474-4481.2000","article-title":"Disruption of the murine calpain small subunit gene, Capn4: calpain is essential for embryonic development but not for cell growth and division","volume":"20","author":"Arthur","year":"2000","journal-title":"Mol. Cell. Biol."},{"key":"key\n\t\t\t\t20170522140616_DDN234C95","doi-asserted-by":"crossref","first-page":"2213","DOI":"10.1128\/MCB.21.6.2213-2220.2001","article-title":"Disruption of the mouse mu-calpain gene reveals an essential role in platelet function","volume":"21","author":"Azam","year":"2001","journal-title":"Mol. Cell. Biol."},{"key":"key\n\t\t\t\t20170522140616_DDN234C96","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1385\/JMN:21:3:233","article-title":"Calpainopathy: how broad is the spectrum of clinical variability?","volume":"21","author":"Starling","year":"2003","journal-title":"J. Mol. Neurosci."},{"key":"key\n\t\t\t\t20170522140616_DDN234C97","doi-asserted-by":"crossref","first-page":"31158","DOI":"10.1074\/jbc.270.52.31158","article-title":"Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence","volume":"270","author":"Sorimachi","year":"1995","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522140616_DDN234C98","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1093\/jb\/mvg084","article-title":"Localization of calpain 3 in human skeletal muscle and its alteration in limb-girdle muscular dystrophy 2A muscle","volume":"133","author":"Keira","year":"2003","journal-title":"J. Biochem."},{"key":"key\n\t\t\t\t20170522140616_DDN234C99","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1093\/oxfordjournals.jbchem.a121959","article-title":"A unique specificity of a calcium activated neutral protease indicated in histone hydrolysis","volume":"101","author":"Sakai","year":"1987","journal-title":"J. Biochem."},{"key":"key\n\t\t\t\t20170522140616_DDN234C100","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1021\/bi962034i","article-title":"Site-directed mutagenesis of alpha II spectrin at codon 1175 modulates its mu-calpain susceptibility","volume":"36","author":"Stabach","year":"1997","journal-title":"Biochemistry"},{"key":"key\n\t\t\t\t20170522140616_DDN234C101","doi-asserted-by":"crossref","first-page":"20775","DOI":"10.1074\/jbc.M313873200","article-title":"On the sequential determinants of calpain cleavage","volume":"279","author":"Tompa","year":"2004","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522140616_DDN234C102","doi-asserted-by":"crossref","first-page":"40632","DOI":"10.1074\/jbc.M506870200","article-title":"Determination of peptide substrate specificity for mu-calpain by a peptide library-based approach: the importance of primed side interactions","volume":"280","author":"Cuerrier","year":"2005","journal-title":"J. Biol. 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