{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T11:53:47Z","timestamp":1768910027269,"version":"3.49.0"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2020,7,8]],"date-time":"2020-07-08T00:00:00Z","timestamp":1594166400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,7,8]],"date-time":"2020-07-08T00:00:00Z","timestamp":1594166400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2020,12]]},"DOI":"10.1007\/s00415-020-10052-w","type":"journal-article","created":{"date-parts":[[2020,7,8]],"date-time":"2020-07-08T09:03:49Z","timestamp":1594199029000},"page":"3617-3623","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Yield of the PMP22 deletion analysis in patients with compression neuropathies"],"prefix":"10.1007","volume":"267","author":[{"given":"Vukan","family":"Ivanovic","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marija","family":"Brankovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bogdan","family":"Bjelica","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandra","family":"Kacar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Radoje","family":"Tubic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milena","family":"Jankovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Marjanovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivana","family":"Novakovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vidosava","family":"Rakocevic-Stojanovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2979-556X","authenticated-orcid":false,"given":"Stojan","family":"Peric","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,7,8]]},"reference":[{"key":"10052_CR1","doi-asserted-by":"publisher","first-page":"1440","DOI":"10.1212\/WNL.52.7.1440","volume":"52","author":"P Mouton","year":"1999","unstructured":"Mouton P, Tardieu S, Gouider R, Birouk N, Maisonobe T, Dubourg O et al (1999) Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion. Neurology 52:1440\u20131446","journal-title":"Neurology"},{"key":"10052_CR2","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1136\/jnnp-2011-300285","volume":"83","author":"C Foley","year":"2012","unstructured":"Foley C, Schofield I, Eglon G, Bailey G, Chinnery PF, Horvath R (2012) Charcot Marie-Tooth disease in Northern England. J Neurol Neurosurg Psychiatry 83:572\u2013573","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10052_CR3","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1186\/1750-1172-9-38","volume":"9","author":"BW van Paassen","year":"2014","unstructured":"van Paassen BW, van der Kooi AJ, van Spaendonck-Zwarts KY, Verhamme C, Baas F, de Visser M (2014) PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies. Orph J Rare Dis 9:38","journal-title":"Orph J Rare Dis"},{"key":"10052_CR4","first-page":"1993","volume":"32","author":"TD Bird","year":"1998","unstructured":"Bird TD (1998) Hereditary neuropathy with liability to pressure palsies. Gene Rev 32:1993\u20132020","journal-title":"Gene Rev"},{"key":"10052_CR5","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1159\/000472166","volume":"4","author":"E Nelis","year":"1996","unstructured":"Nelis E, Van Broeckhoven C, De Jonghe P, L\u00f6fgren A, Vandenberghe A, Latour P et al (1996) Estimation of the mutation frequencies in Charcot-Marietooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 4:25\u201333","journal-title":"Eur J Hum Genet"},{"key":"10052_CR6","doi-asserted-by":"publisher","first-page":"1133","DOI":"10.1212\/WNL.46.4.1133","volume":"46","author":"D Pareyson","year":"1996","unstructured":"Pareyson D, Scaioli V, Taroni F, Botti S, Lorenzetti D, Solari A et al (1996) Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion. Neurology 46:1133\u20131137","journal-title":"Neurology"},{"key":"10052_CR7","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1159\/000444641","volume":"46","author":"EM Khedr","year":"2016","unstructured":"Khedr EM, Fawi G, Allah Abbas MA, El-Fetoh NA, Zaki AF, Gamea A (2016) Prevalence of common types of compression neuropathies in Qena Governorate\/Egypt: a population-based survey. Neuroepidemiology 46:253\u2013260","journal-title":"Neuroepidemiology"},{"key":"10052_CR8","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1111\/j.1468-1331.2009.02930.x","volume":"17","author":"PY Van den Bergh","year":"2010","unstructured":"Van den Bergh PY, Haaden RD, Bouche P, Cornblath DR, Hahn A, Illa I et al (2010) European Federation of Neurological Societies\/Peripheral Nerve Society guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society\u2013first version. Eur J Neurol 17:356\u2013363","journal-title":"Eur J Neurol"},{"key":"10052_CR9","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1111\/j.1529-8027.2010.00290.x","volume":"15","author":"Joint Task Force of the EFNS and the PNS. European Federation of Neurological Societies\/Peripheral Nerve Society guideline on management of multifocal motor neuropathy","year":"2010","unstructured":"Joint Task Force of the EFNS and the PNS. European Federation of Neurological Societies\/Peripheral Nerve Society guideline on management of multifocal motor neuropathy (2010) Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society-first revision. J Peripher Nerv Syst 15:295\u2013301","journal-title":"J Peripher Nerv Syst"},{"key":"10052_CR10","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1016\/j.neurol.2017.11.012","volume":"174","author":"G Ozel","year":"2018","unstructured":"Ozel G, Maisonobe T, Guyant-Marechal L, Maltete D, Lefaucheur R (2018) Hereditary neuropathy with liability to pressure palsies mimicking chronic inflammatory demyelinating polyneuropathy. Rev Neurol 174:575\u2013577","journal-title":"Rev Neurol"},{"key":"10052_CR11","first-page":"290","volume":"44","author":"J Paprocka","year":"2006","unstructured":"Paprocka J, Kajor M, Jamroz E, Jezela-Stanek A, Seeman P, Marszal E (2006) Hereditary neuropathy with liability to pressure palsy. Folia Neuropathol 44:290\u2013294","journal-title":"Folia Neuropathol"},{"key":"10052_CR12","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1034\/j.1600-0404.2003.00132.x","volume":"108","author":"YH Hong","year":"2003","unstructured":"Hong YH, Kim M, Kim HJ, Sung JJ, Kim SH, Lee KW (2003) Clinical and electrophysiologic features of HNPP patients with 17p11.2 deletion. Acta Neurol Scand 108:352\u2013358","journal-title":"Acta Neurol Scand"},{"key":"10052_CR13","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1111\/j.1749-6632.1999.tb08595.x","volume":"883","author":"A Gabreels-Festen","year":"1999","unstructured":"Gabreels-Festen A, Wetering RV (1999) Human nerve pathology caused by different mutational mechanisms of the PMP22 gene. Ann NY Acad Sci 883:336\u2013343","journal-title":"Ann NY Acad Sci"},{"key":"10052_CR14","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1007\/s004390000399","volume":"107","author":"NK Aarskog","year":"2000","unstructured":"Aarskog NK, Vedeler CA (2000) Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Hum Genet 107:494\u2013498","journal-title":"Hum Genet"},{"key":"10052_CR15","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1038\/emm.2004.4","volume":"36","author":"SM Kim","year":"2004","unstructured":"Kim SM, Chung KW, Choi BO, Yoon ES, Choi JY, Park KD et al (2004) Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion. Exp Mol Med 36:28\u201335","journal-title":"Exp Mol Med"},{"key":"10052_CR16","doi-asserted-by":"publisher","first-page":"1686","DOI":"10.1002\/(SICI)1097-4598(199812)21:12<1686::AID-MUS10>3.0.CO;2-Z","volume":"21","author":"D Pareyson","year":"1998","unstructured":"Pareyson D, Solari A, Taroni F, Botti S, Fallica E, Scaioli V (1998) Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy. Muscle Nerve 21:1686\u20131691","journal-title":"Muscle Nerve"},{"key":"10052_CR17","doi-asserted-by":"publisher","first-page":"650","DOI":"10.1002\/ana.410360415","volume":"36","author":"ECM Mariman","year":"1994","unstructured":"Mariman ECM, Gabreels-Festen AAWM, van Beersum SEC, Valentijn LJ, Baas F, Bolhuis PA et al (1994) Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. Ann Neurol 36:650\u2013655","journal-title":"Ann Neurol"},{"key":"10052_CR18","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1159\/000472166","volume":"4","author":"E Nelis","year":"1996","unstructured":"Nelis E, Van Broeckhoven C, Jonghe P, Lofgren A, Vandenberghe A, Latour P (1996) Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies. A European collaborative study. Eur J Hum Genet 4:25\u201333","journal-title":"Eur J Hum Genet"},{"key":"10052_CR19","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1136\/jmg.34.1.43","volume":"34","author":"V Timmerman","year":"1997","unstructured":"Timmerman V, Rautenstrauss B, Reiter LT, Koeuth T, L\u00f6fgren A, Liehr T et al (1997) Detection of the CMT1A\/HNPP recombination hotspot in unrelated patients of European descent. J Med Genet 34:43\u201349","journal-title":"J Med Genet"},{"key":"10052_CR20","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1136\/jnnp-2012-302451","volume":"83","author":"SM Murphy","year":"2012","unstructured":"Murphy SM, Laura M, Fawcett K, Pandraud A, Liu YT, Davidson GL et al (2012) Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry 83:706\u2013710","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10052_CR21","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1111\/jns.12125","volume":"20","author":"G Karadima","year":"2015","unstructured":"Karadima G, Koutsis G, Raftopoulou M, Karletidi KM, Zambelis T, Karandreas N et al (2015) Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience. J Periph Nerv Sys 20:79\u201385","journal-title":"J Periph Nerv Sys"},{"key":"10052_CR22","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1016\/j.jns.2014.03.046","volume":"341","author":"M Luigetti","year":"2014","unstructured":"Luigetti M, Del Grande A, Conte A, Lo Monaco M, Bisogni G, Romano A et al (2014) Clinical, neurophysiological and pathologic findings of HNPP patients with 17p12 deletion: a single-centre experience. J Neurol Sci 341:46\u201350","journal-title":"J Neurol Sci"},{"key":"10052_CR23","doi-asserted-by":"publisher","first-page":"1051","DOI":"10.1136\/jnnp-2015-310835","volume":"87","author":"Y Rajabally","year":"2016","unstructured":"Rajabally Y, Adams D, Latour P, Attarian S (2016) Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses. J Neurol Neurosurg Psychiatry 87:1051\u20131060","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10052_CR24","doi-asserted-by":"publisher","first-page":"2018","DOI":"10.1212\/WNL.45.11.2018","volume":"45","author":"R Gouider","year":"1995","unstructured":"Gouider R, LeGuern E, Gugenheim M, Tardieu S, Maisonobe T, L\u00e9ger JM et al (1995) Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion. Neurology 45:2018\u20132023","journal-title":"Neurology"},{"key":"10052_CR25","doi-asserted-by":"publisher","first-page":"1451","DOI":"10.1093\/brain\/121.8.1451","volume":"121","author":"PP Lenssen","year":"1998","unstructured":"Lenssen PP, Gabreels-Festen AA, Valentijn LJ, Jongen PJ, van Beersum SE, van Engelen BG et al (1998) Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation. Brain 121:1451\u20131458","journal-title":"Brain"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-020-10052-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-020-10052-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-020-10052-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,8]],"date-time":"2021-07-08T00:00:02Z","timestamp":1625702402000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-020-10052-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,8]]},"references-count":25,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["10052"],"URL":"https:\/\/doi.org\/10.1007\/s00415-020-10052-w","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,8]]},"assertion":[{"value":"6 May 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 June 2020","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 July 2020","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 July 2020","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"All human studies have been approved by the appropriate ethics committee and have therefore been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical standards"}},{"value":"All persons gave their informed consent prior to their inclusion in the study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}