{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T08:05:13Z","timestamp":1791187513379,"version":"4.1.0"},"reference-count":24,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2010,9,1]],"date-time":"2010-09-01T00:00:00Z","timestamp":1283299200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Veterans Affairs Medical Research"},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["NS069719"],"award-info":[{"award-number":["NS069719"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"name":"National Science Foundation","award":["MCB-0641640"],"award-info":[{"award-number":["MCB-0641640"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2010,9]]},"DOI":"10.1016\/j.jns.2010.06.017","type":"journal-article","created":{"date-parts":[[2010,7,15]],"date-time":"2010-07-15T08:39:42Z","timestamp":1279183182000},"page":"22-29","source":"Crossref","is-referenced-by-count":41,"title":["A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: Phenotypic spectrum and structural study of FHL1 mutations"],"prefix":"10.1016","volume":"296","author":[{"given":"Dong-Hui","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy H.","family":"Raskind","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William W.","family":"Parson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua A.","family":"Sonnen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiffany","family":"Vu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"YunLin","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Matsushita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Wolff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hillary","family":"Lipe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas D.","family":"Bird","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jns.2010.06.017_bib1","first-page":"904","article-title":"Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy","volume":"118","author":"Schessl","year":"2008","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jns.2010.06.017_bib2","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.ajhg.2007.09.013","article-title":"X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1","volume":"82","author":"Quinzii","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jns.2010.06.017_bib3","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.ajhg.2007.09.004","article-title":"An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1","volume":"82","author":"Windpassinger","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jns.2010.06.017_bib4","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1016\/j.nmd.2008.09.012","article-title":"Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1)","volume":"18","author":"Shalaby","year":"2008","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jns.2010.06.017_bib5","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1212\/01.wnl.0000341311.84347.a0","article-title":"Novel FHL1 mutations in fatal and benign reducing body myopathy","volume":"72","author":"Shalaby","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2010.06.017_bib6","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1093\/brain\/awn325","article-title":"Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1","volume":"132","author":"Schessl","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.jns.2010.06.017_bib7","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1016\/j.ajhg.2009.07.015","article-title":"Mutations of the FHL1 gene cause Emery\u2013Dreifuss muscular dystrophy","volume":"85","author":"Gueneau","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jns.2010.06.017_bib8","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1212\/WNL.0b013e3181b2a4b3","article-title":"Consequences of mutations within the C terminus of the FHL1 gene","volume":"73","author":"Schoser","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.jns.2010.06.017_bib9","doi-asserted-by":"crossref","first-page":"7666","DOI":"10.1074\/jbc.M512552200","article-title":"Four and a half LIM protein 1 binds myosin-binding protein C and regulates myosin filament formation and sarcomere assembly","volume":"281","author":"McGrath","year":"2006","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jns.2010.06.017_bib10","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1006\/mcbr.2000.0206","article-title":"The LIM-domain protein FHL1 (SLIM 1) exhibits functional regulation in skeletal muscle","volume":"3","author":"Loughna","year":"2000","journal-title":"Mol Cell Biol Res Commun"},{"key":"10.1016\/j.jns.2010.06.017_bib11","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1128\/MCB.18.1.644","article-title":"LIM protein KyoT2 negatively regulates transcription by association with the RBP-J DNA-binding protein","volume":"18","author":"Taniguchi","year":"1998","journal-title":"Mol Cell Biol"},{"key":"10.1016\/j.jns.2010.06.017_bib12","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1001\/archneur.62.4.597","article-title":"Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds","volume":"62","author":"Chen","year":"2005","journal-title":"Arch Neurol"},{"key":"10.1016\/j.jns.2010.06.017_bib13","series-title":"Database on the Internet","author":"Qin","year":"2005"},{"key":"10.1016\/j.jns.2010.06.017_bib14","doi-asserted-by":"crossref","first-page":"16761","DOI":"10.1021\/jp961271s","article-title":"Orientation of the OH dipole of tyrosine (M)210 and its effect on electrostatic energies in photosynthetic reaction centers","volume":"100","author":"Alden","year":"1996","journal-title":"J Phys Chem"},{"key":"10.1016\/j.jns.2010.06.017_bib15","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1002\/jcc.540140205","article-title":"Microscopic and semimicroscopic calculations of electrostatic energies in proteins by the POLARIS and ENZYMIX programs","volume":"14","author":"Lee","year":"1993","journal-title":"J Comp Chem"},{"key":"10.1016\/j.jns.2010.06.017_bib16","series-title":"Biophysical techniques in photosynthesis","first-page":"401","article-title":"Calculations of electrostatic energies in proteins using microscopic, semimicroscopic and macroscopic models and free-energy perturbation approaches","author":"Parson","year":"2008"},{"key":"10.1016\/j.jns.2010.06.017_bib17","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1002\/pro.5560030501","article-title":"A role for surface hydrophobicity in protein\u2013protein recognition","volume":"3","author":"Young","year":"1994","journal-title":"Protein Sci"},{"key":"10.1016\/j.jns.2010.06.017_bib18","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1073\/pnas.93.1.13","article-title":"Principles of protein\u2013protein interactions","volume":"93","author":"Jones","year":"1996","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jns.2010.06.017_bib19","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1002\/pro.5560060106","article-title":"Studies of protein\u2013protein interfaces: a statistical analysis of the hydrophobic effect","volume":"6","author":"Tsai","year":"1997","journal-title":"Protein Sci"},{"key":"10.1016\/j.jns.2010.06.017_bib20","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/j.cbpa.2006.07.009","article-title":"Computational models for the prediction of polypeptide aggregation propensity","volume":"10","author":"Caflish","year":"2006","journal-title":"Curr Opin Chem Biol"},{"key":"10.1016\/j.jns.2010.06.017_bib21","doi-asserted-by":"crossref","first-page":"11937","DOI":"10.1073\/pnas.0904191106","article-title":"Design of therapeutic proteins with enhanced stability","volume":"106","author":"Chennamsetty","year":"2009","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jns.2010.06.017_bib22","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/nchembio.131","article-title":"Amyloid formation by globular proteins under native conditions","volume":"5","author":"Chiti","year":"2009","journal-title":"Nat Chem Biol"},{"key":"10.1016\/j.jns.2010.06.017_bib23","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1002\/ajmg.a.30123","article-title":"Inheritance of most X-linked traits is not dominant or recessive, just X-linked","volume":"129A","author":"Dobyns","year":"2004","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jns.2010.06.017_bib24","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/0263-7855(96)00018-5","article-title":"VMD \u2014 visual molecular dynamics","volume":"14","author":"Humphrey","year":"1996","journal-title":"J Mol Graph"}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X1000287X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X1000287X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,5,6]],"date-time":"2020-05-06T19:44:39Z","timestamp":1588794279000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X1000287X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9]]},"references-count":24,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2010,9]]}},"alternative-id":["S0022510X1000287X"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2010.06.017","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2010,9]]}}}