{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:27:32Z","timestamp":1791098852409,"version":"4.1.0"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2007,8,24]],"date-time":"2007-08-24T00:00:00Z","timestamp":1187913600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"published-print":{"date-parts":[[2007,11]]},"DOI":"10.1007\/s10048-007-0094-0","type":"journal-article","created":{"date-parts":[[2007,8,23]],"date-time":"2007-08-23T15:32:36Z","timestamp":1187883156000},"page":"257-262","source":"Crossref","is-referenced-by-count":47,"title":["Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations"],"prefix":"10.1007","volume":"8","author":[{"given":"Kinga","family":"Szigeti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wojciech","family":"Wiszniewski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gulam Mustafa","family":"Saifi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane L.","family":"Sherman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norbert","family":"Sule","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adekunle M.","family":"Adesina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro","family":"Mancias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sozos Ch.","family":"Papasozomenos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geoffrey","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Keppen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna","family":"Daentl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter J.","family":"Brophy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2007,8,24]]},"reference":[{"key":"94_CR1","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1038\/371796a0","volume":"371","author":"P Topilko","year":"1994","unstructured":"Topilko P, Schneider-Maunoury S, Levi G et al (1994) Krox-20 controls myelination in the peripheral nervous system. Nature 371:796\u2013799","journal-title":"Nature"},{"key":"94_CR2","doi-asserted-by":"crossref","first-page":"2596","DOI":"10.1073\/pnas.0407836102","volume":"102","author":"N Le","year":"2005","unstructured":"Le N, Nagarajan R, Wang JY et al (2005) Analysis of congenital hypomyelinating Egr2Lo\/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination. Proc Natl Acad Sci USA 102:2596\u20132601","journal-title":"Proc Natl Acad Sci USA"},{"key":"94_CR3","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1038\/nrn1743","volume":"6","author":"DL Sherman","year":"2005","unstructured":"Sherman DL, Brophy PJ (2005) Mechanisms of axon ensheathment and myelin growth. Nat Rev Neurosci 6:683\u2013690","journal-title":"Nat Rev Neurosci"},{"key":"94_CR4","doi-asserted-by":"crossref","first-page":"3521","DOI":"10.1128\/MCB.01689-06","volume":"27","author":"SE LeBlanc","year":"2007","unstructured":"LeBlanc SE, Ward RM, Svaren J (2007) Neuropathy-associated Egr2 mutants disrupt cooperative activation of myelin protein zero by Egr2 and Sox10. Mol Cell Biol 27:3521\u20133529","journal-title":"Mol Cell Biol"},{"key":"94_CR5","doi-asserted-by":"crossref","first-page":"9771","DOI":"10.1523\/JNEUROSCI.0716-06.2006","volume":"26","author":"L Decker","year":"2006","unstructured":"Decker L, Desmarquet-Trin-Dinh C, Taillebourg E et al (2006) Peripheral myelin maintenance is a dynamic process requiring constant Krox20 expression. J Neurosci 26:9771\u20139779","journal-title":"J Neurosci"},{"key":"94_CR6","doi-asserted-by":"crossref","first-page":"e81","DOI":"10.1136\/jmg.39.12.e81","volume":"39","author":"N Vandenberghe","year":"2002","unstructured":"Vandenberghe N, Upadhyaya M, Gatignol A et al (2002) Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies. J Med Genet 39:e81","journal-title":"J Med Genet"},{"key":"94_CR7","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1038\/ng0498-382","volume":"18","author":"LE Warner","year":"1998","unstructured":"Warner LE, Mancias P, Butler IJ et al (1998) Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 18:382\u2013384","journal-title":"Nat Genet"},{"key":"94_CR8","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/S0022-510X(03)00028-5","volume":"210","author":"C Numakura","year":"2003","unstructured":"Numakura C, Shirahata E, Yamashita S et al (2003) Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1. J Neurol Sci 210:61\u201364","journal-title":"J Neurol Sci"},{"key":"94_CR9","doi-asserted-by":"crossref","first-page":"1827","DOI":"10.1212\/WNL.52.9.1827","volume":"52","author":"V Timmerman","year":"1999","unstructured":"Timmerman V, De Jonghe P, Ceuterick C et al (1999) Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology 52:1827\u20131832","journal-title":"Neurology"},{"key":"94_CR10","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1002\/(SICI)1098-1004(199910)14:4<353::AID-HUMU17>3.0.CO;2-4","volume":"14","author":"E Bellone","year":"1999","unstructured":"Bellone E, Di Maria E, Soriani S et al (1999) A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot\u2013Marie\u2013Tooth type 1 disease. Hum Mutat 14:353\u2013354","journal-title":"Hum Mutat"},{"key":"94_CR11","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1016\/j.nmd.2005.08.001","volume":"15","author":"E Mikesova","year":"2005","unstructured":"Mikesova E, Huhne K, Rautenstrauss B et al (2005) Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis. Neuromuscul Disord 15:764\u2013767","journal-title":"Neuromuscul Disord"},{"key":"94_CR12","doi-asserted-by":"crossref","first-page":"1696","DOI":"10.1212\/WNL.54.8.1696","volume":"54","author":"D Pareyson","year":"2000","unstructured":"Pareyson D, Taroni F, Botti S et al (2000) Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation. Neurology 54:1696\u20131698","journal-title":"Neurology"},{"key":"94_CR13","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/S0022-510X(00)00504-9","volume":"184","author":"T Yoshihara","year":"2001","unstructured":"Yoshihara T, Kanda F, Yamamoto M et al (2001) A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot\u2013Marie\u2013Tooth disease type 1. J Neurol Sci 184:149\u2013153","journal-title":"J Neurol Sci"},{"key":"94_CR14","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1093\/hmg\/8.7.1245","volume":"8","author":"LE Warner","year":"1999","unstructured":"Warner LE, Svaren J, Milbrandt J, Lupski JR (1999) Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum Mol Genet 8:1245\u20131251","journal-title":"Hum Mol Genet"},{"key":"94_CR15","doi-asserted-by":"crossref","first-page":"6010","DOI":"10.1093\/emboj\/17.20.6010","volume":"17","author":"J Svaren","year":"1998","unstructured":"Svaren J, Sevetson BR, Golda T et al (1998) Novel mutants of NAB corepressors enhance activation by Egr transactivators. Embo J 17:6010\u20136019","journal-title":"Embo J"},{"key":"94_CR16","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1038\/nn1490","volume":"8","author":"N Le","year":"2005","unstructured":"Le N, Nagarajan R, Wang JY et al (2005) Nab proteins are essential for peripheral nervous system myelination. Nat Neurosci 8:932\u2013940","journal-title":"Nat Neurosci"},{"key":"94_CR17","doi-asserted-by":"crossref","first-page":"5794","DOI":"10.1074\/jbc.273.10.5794","volume":"273","author":"L Dytrych","year":"1998","unstructured":"Dytrych L, Sherman DL, Gillespie CS, Brophy PJ (1998) Two PDZ domain proteins encoded by the murine periaxin gene are the result of alternative intron retention and are differentially targeted in Schwann cells. J Biol Chem 273:5794\u20135800","journal-title":"J Biol Chem"},{"key":"94_CR18","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1007\/s100480100107","volume":"3","author":"CF Boerkoel","year":"2001","unstructured":"Boerkoel CF, Takashima H, Bacino CA et al (2001) EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. Neurogenetics 3:153\u2013157","journal-title":"Neurogenetics"},{"key":"94_CR19","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1242\/dev.127.1.119","volume":"127","author":"F Mechta-Grigoriou","year":"2000","unstructured":"Mechta-Grigoriou F, Garel S, Charnay P (2000) Nab proteins mediate a negative feedback loop controlling Krox-20 activity in the developing hindbrain. Development 127:119\u2013128","journal-title":"Development"},{"key":"94_CR20","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1016\/0092-8674(93)90329-O","volume":"75","author":"S Schneider-Maunoury","year":"1993","unstructured":"Schneider-Maunoury S, Topilko P, Seitandou T et al (1993) Disruption of Krox-20 results in alteration of rhombomeres 3 and 5 in the developing hindbrain. Cell 75:1199\u20131214","journal-title":"Cell"},{"key":"94_CR21","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1242\/dev.124.6.1215","volume":"124","author":"S Schneider-Maunoury","year":"1997","unstructured":"Schneider-Maunoury S, Seitanidou T, Charnay P, Lumsden A (1997) Segmental and neuronal architecture of the hindbrain of Krox-20 mouse mutants. Development 124:1215\u20131226","journal-title":"Development"},{"key":"94_CR22","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/ng1322","volume":"36","author":"K Inoue","year":"2004","unstructured":"Inoue K, Khajavi M, Ohyama T et al (2004) Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet 36:361\u2013369","journal-title":"Nat Genet"},{"key":"94_CR23","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1097\/01.gim.0000200160.29385.73","volume":"8","author":"K Szigeti","year":"2006","unstructured":"Szigeti K, Garcia CA, Lupski JR (2006) Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management. Genet Med 8:86\u201392","journal-title":"Genet Med"}],"container-title":["Neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-007-0094-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10048-007-0094-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-007-0094-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,22]],"date-time":"2021-08-22T08:34:38Z","timestamp":1629621278000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10048-007-0094-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,8,24]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2007,11]]}},"alternative-id":["94"],"URL":"https:\/\/doi.org\/10.1007\/s10048-007-0094-0","relation":{},"ISSN":["1364-6745","1364-6753"],"issn-type":[{"value":"1364-6745","type":"print"},{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,8,24]]}}}