{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T15:46:56Z","timestamp":1791042416731,"version":"4.1.0"},"reference-count":22,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2009,2,1]],"date-time":"2009-02-01T00:00:00Z","timestamp":1233446400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2009,2]]},"DOI":"10.1016\/j.jns.2008.09.031","type":"journal-article","created":{"date-parts":[[2008,10,26]],"date-time":"2008-10-26T08:07:59Z","timestamp":1225008479000},"page":"9-12","source":"Crossref","is-referenced-by-count":44,"title":["A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation"],"prefix":"10.1016","volume":"277","author":[{"given":"Yoshihisa","family":"Ikeda","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akiko","family":"Abe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiho","family":"Ishida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuya","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyoshi","family":"Hayasaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahito","family":"Yamada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jns.2008.09.031_bib1","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1385\/NMM:8:1-2:131","article-title":"Unraveling the genetics of distal hereditary motor neuronopathies","volume":"8","author":"Irobi","year":"2006","journal-title":"NeuroMolecular Med"},{"key":"10.1016\/j.jns.2008.09.031_bib2","series-title":"Peripheral neuropathy","first-page":"1603","article-title":"Inherited neuronal atrophy and degeneration predominantly of lower motor neurons","author":"Harding","year":"2005"},{"key":"10.1016\/j.jns.2008.09.031_bib3","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1038\/ng1354","article-title":"Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy","volume":"36","author":"Evgrafov","year":"2004","journal-title":"Nat Genet"},{"key":"10.1016\/j.jns.2008.09.031_bib4","doi-asserted-by":"crossref","first-page":"2613","DOI":"10.1111\/j.1742-4658.2005.04708.x","article-title":"The small heat shock proteins and their role in human disease","volume":"272","author":"Sun","year":"2005","journal-title":"FEBS J"},{"key":"10.1016\/j.jns.2008.09.031_bib5","first-page":"3511","article-title":"A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family","volume":"41","author":"Pras","year":"2000","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.jns.2008.09.031_bib6","first-page":"768","article-title":"Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family","volume":"12","author":"Santhiya","year":"2006","journal-title":"Mol Vis"},{"key":"10.1016\/j.jns.2008.09.031_bib7","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1016\/j.ajo.2007.08.005","article-title":"Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C)","volume":"144","author":"Khan","year":"2007","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.jns.2008.09.031_bib8","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1002\/ajmg.a.32236","article-title":"Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystalline gene (CRYAA)","volume":"146A","author":"Richter","year":"2008","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jns.2008.09.031_bib9","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/j.bbrc.2006.01.154","article-title":"\u03b1B-crystallin mutation in dilated cardiomyopathy","volume":"342","author":"Inagaki","year":"2006","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.jns.2008.09.031_bib10","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1007\/s10038-005-0280-6","article-title":"Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy","volume":"50","author":"Kijima","year":"2005","journal-title":"J Hum Genet"},{"key":"10.1016\/j.jns.2008.09.031_bib11","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1136\/jnnp.2007.125179","article-title":"Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27)","volume":"79","author":"James","year":"2008","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.jns.2008.09.031_bib12","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1016\/j.neuroscience.2008.01.070","article-title":"Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13)","volume":"153","author":"Hansen","year":"2008","journal-title":"Neuroscience"},{"key":"10.1016\/j.jns.2008.09.031_bib13","doi-asserted-by":"crossref","first-page":"363","DOI":"10.4049\/jimmunol.154.1.363","article-title":"Constitutive expression of human hsp27, Drosophila hsp27, or human alpha B-crystallin confers resistance to TNF- and oxidative stress-induced cytotoxicity in stably transfected murine L929 fibroblasts","volume":"154","author":"Mehlen","year":"1995","journal-title":"J Immunol"},{"key":"10.1016\/j.jns.2008.09.031_bib14","doi-asserted-by":"crossref","first-page":"2099","DOI":"10.1242\/jcs.112.13.2099","article-title":"Intermediate filament interactions can be altered by HSP27 and \u03b1B-crystallin","volume":"112","author":"Der Perng","year":"1999","journal-title":"J Cell Sci"},{"key":"10.1016\/j.jns.2008.09.031_bib15","doi-asserted-by":"crossref","first-page":"23463","DOI":"10.1074\/jbc.M402325200","article-title":"Essential role of the NH2-terminal WD\/EPF motif in the phosphorylation-activated protective function of mammalian Hsp27","volume":"279","author":"Th\u00e9riault","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jns.2008.09.031_bib16","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1379\/CSC-102.1","article-title":"Structural instability caused by a mutation at a conserved arginine in the \u03b1-crystallin domain of Chinese hamster heat shock protein 27","volume":"10","author":"Ch\u00e1vez-Zobel","year":"2005","journal-title":"Cell Stress Chaperones"},{"key":"10.1016\/j.jns.2008.09.031_bib17","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1001\/archneur.62.8.1201","article-title":"Mutation analysis of the small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease","volume":"62","author":"Tang","year":"2005","journal-title":"Arch Neurol"},{"key":"10.1016\/j.jns.2008.09.031_bib18","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1038\/sj.ejhg.5200686","article-title":"A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11\u2013q21","volume":"9","author":"Ismailov","year":"2001","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jns.2008.09.031_bib19","doi-asserted-by":"crossref","first-page":"1757","DOI":"10.1590\/S0100-879X2004001100022","article-title":"Hereditary motor and autonomic neuronopathy 1 maps to chromosome 20q13.2\u201313.3","volume":"37","author":"Marques","year":"2004","journal-title":"Braz J Med Biol Res"},{"key":"10.1016\/j.jns.2008.09.031_bib20","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/j.mehy.2004.08.033","article-title":"Induction of heat shock proteins may combat insulin resistance","volume":"66","author":"McCarty","year":"2006","journal-title":"Med Hypotheses"},{"key":"10.1016\/j.jns.2008.09.031_bib21","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1111\/j.1365-2982.2004.00524.x","article-title":"Diabetic autonomic neuropathy: evidence for apoptosis in situ in the rat","volume":"16","author":"Guo","year":"2004","journal-title":"Neurogastroenterol Motil"},{"key":"10.1016\/j.jns.2008.09.031_bib22","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/S0896-6273(02)00941-8","article-title":"Hsp27 upregulation and phosphorylation is required for injured sensory and motor neuron survival","volume":"36","author":"Benn","year":"2002","journal-title":"Neuron"}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X0800498X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X0800498X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T18:07:13Z","timestamp":1684606033000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X0800498X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2]]},"references-count":22,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2009,2]]}},"alternative-id":["S0022510X0800498X"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2008.09.031","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2009,2]]}}}