{ "labelLang" : "hun", "responseDate" : "2024-03-29 06:24", "content" : { "otype" : "JournalArticle", "mtid" : 27009549, "status" : "ADMIN_APPROVED", "published" : true, "unhandledTickets" : 0, "oldTimestamp" : "2018-02-02T14:25:12.000+0000", "deleted" : false, "oldId" : 17009549, "lastRefresh" : "2023-11-17T12:37:10.977+0000", "lastModified" : "2022-06-07T11:48:00.337+0000", "created" : "2017-12-18T17:11:23.000+0000", "creator" : { "otype" : "Author", "mtid" : 10000410, "link" : "/api/author/10000410", "label" : "Vécsei László (Neurológia)", "familyName" : "Vécsei", "givenName" : "László", "published" : true, "oldId" : 10000410, "snippet" : true }, "lastDuplumOK" : "2022-06-07T11:47:53.853+0000", "lastDuplumSearch" : "2022-06-07T11:47:53.853+0000", "adminApproved" : "2022-06-07T11:48:00.679+0000", "adminApprover" : { "otype" : "Admin", "mtid" : 10082735, "link" : "/api/admin/10082735", "label" : "Tóth Péter (SZTE admin5)", "familyName" : "Tóth", "givenName" : "Péter", "published" : true, "snippet" : true }, "core" : false, "citation" : true, "publicationPending" : false, "type" : { "otype" : "PublicationType", "mtid" : 24, "link" : "/api/publicationtype/24", "label" : "Folyóiratcikk", "code" : 24, "otypeName" : "JournalArticle", "listPosition" : 1, "published" : true, "oldId" : 24, "snippet" : true }, "subType" : { "otype" : "SubType", "mtid" : 10000059, "link" : "/api/subtype/10000059", "label" : "Szakcikk (Folyóiratcikk)", "name" : "Szakcikk", "nameEng" : "Article", "docType" : { "otype" : "PublicationType", "mtid" : 24, "link" : "/api/publicationtype/24", "label" : "Folyóiratcikk", "code" : 24, "otypeName" : "JournalArticle", "listPosition" : 1, "published" : true, "oldId" : 24, "snippet" : true }, "listPosition" : 101, "published" : true, "oldId" : 10000059, "snippet" : true }, "category" : { "otype" : "Category", "mtid" : 1, "link" : "/api/category/1", "label" : "Tudományos", "published" : true, "oldId" : 1, "snippet" : true }, "languages" : [ { "otype" : "Language", "mtid" : 10002, "link" : "/api/language/10002", "label" : "Angol", "name" : "Angol", "nameEng" : "English", "published" : true, "oldId" : 2, "snippet" : true } ], "firstAuthor" : "Kay, C", "authorships" : [ { "otype" : "PersonAuthorship", "mtid" : 73750304, "link" : "/api/authorship/73750304", "label" : "Kay, C", "listPosition" : 1, "share" : 0.0, "first" : true, "last" : false, "familyName" : "Kay", "givenName" : "C", "authorTyped" : true, "editorTyped" : false, "otherTyped" : false, "type" : { "otype" : "AuthorshipType", "mtid" : 1, "link" : "/api/authorshiptype/1", "label" : "Szerző", "code" : 0, "published" : true, "oldId" : 0, "snippet" : true }, "published" : false, "oldId" : 149833227, "snippet" : true }, { "otype" : "PersonAuthorship", "mtid" : 73750305, "link" : "/api/authorship/73750305", "label" : "Hayden, MR", "listPosition" : 2, "share" : 0.0, "first" : false, "last" : false, "familyName" : "Hayden", "givenName" : "MR", "authorTyped" : true, "editorTyped" : false, "otherTyped" : false, "type" : { "otype" : "AuthorshipType", "mtid" : 1, "link" : "/api/authorshiptype/1", "label" : "Szerző", "code" : 0, "published" : true, "oldId" : 0, "snippet" : true }, "published" : false, "oldId" : 149833226, "snippet" : true }, { "otype" : "PersonAuthorship", "mtid" : 73750306, "link" : "/api/authorship/73750306", "label" : "Leavitt, BR", "listPosition" : 3, "share" : 0.0, "first" : false, "last" : true, "familyName" : "Leavitt", "givenName" : "BR", "authorTyped" : true, "editorTyped" : false, "otherTyped" : false, "type" : { "otype" : "AuthorshipType", "mtid" : 1, "link" : "/api/authorshiptype/1", "label" : "Szerző", "code" : 0, "published" : true, "oldId" : 0, "snippet" : true }, "published" : false, "oldId" : 149833225, "snippet" : true } ], "title" : "Epidemiology of Huntington disease", "identifiers" : [ { "otype" : "PublicationIdentifier", "mtid" : 13291379, "link" : "/api/publicationidentifier/13291379", "label" : "DOI: 10.1016/B978-0-12-801893-4.00003-1", "source" : { "otype" : "PlainSource", "mtid" : 6, "link" : "/api/publicationsource/6", "label" : "DOI", "type" : { "otype" : "PublicationSourceType", "mtid" : 10001, "link" : "/api/publicationsourcetype/10001", "label" : "DOI", "mayHaveOa" : true, "published" : true, "snippet" : true }, "name" : "DOI", "nameEng" : "DOI", "linkPattern" : "https://doi.org/@@@", "publiclyVisible" : true, "published" : true, "oldId" : 6, "snippet" : true }, "validState" : "NO", "idValue" : "10.1016/B978-0-12-801893-4.00003-1", "realUrl" : "https://doi.org/10.1016/B978-0-12-801893-4.00003-1", "published" : false, "oldId" : 16144316, "snippet" : true }, { "otype" : "PublicationIdentifier", "mtid" : 21103202, "link" : "/api/publicationidentifier/21103202", "label" : "WoS: 000416567400005", "source" : { "otype" : "PlainSource", "mtid" : 1, "link" : "/api/publicationsource/1", "label" : "WoS", "type" : { "otype" : "PublicationSourceType", "mtid" : 10003, "link" : "/api/publicationsourcetype/10003", "label" : "Indexelő adatbázis", "mayHaveOa" : false, "published" : true, "snippet" : true }, "name" : "WoS", "nameEng" : "WoS", "linkPattern" : "https://www.webofscience.com/wos/woscc/full-record/@@@", "publiclyVisible" : true, "published" : true, "oldId" : 1, "snippet" : true }, "idValue" : "000416567400005", "realUrl" : "https://www.webofscience.com/wos/woscc/full-record/000416567400005", "published" : true, "snippet" : true }, { "otype" : "PublicationIdentifier", "mtid" : 13291378, "link" : "/api/publicationidentifier/13291378", "label" : "Scopus: 85037050559", "source" : { "otype" : "PlainSource", "mtid" : 3, "link" : "/api/publicationsource/3", "label" : "Scopus", "type" : { "otype" : "PublicationSourceType", "mtid" : 10003, "link" : "/api/publicationsourcetype/10003", "label" : "Indexelő adatbázis", "mayHaveOa" : false, "published" : true, "snippet" : true }, "name" : "Scopus", "linkPattern" : "http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-@@@", "publiclyVisible" : true, "published" : true, "oldId" : 3, "snippet" : true }, "validState" : "NO", "idValue" : "85037050559", "realUrl" : "http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85037050559", "published" : false, "oldId" : 16144315, "snippet" : true }, { "otype" : "PublicationIdentifier", "mtid" : 21103187, "link" : "/api/publicationidentifier/21103187", "label" : "PubMed: 28947124", "source" : { "otype" : "PlainSource", "mtid" : 17, "link" : "/api/publicationsource/17", "label" : "PubMed", "type" : { "otype" : "PublicationSourceType", "mtid" : 10003, "link" : "/api/publicationsourcetype/10003", "label" : "Indexelő adatbázis", "mayHaveOa" : false, "published" : true, "snippet" : true }, "name" : "PubMed", "nameEng" : "PubMed", "linkPattern" : "http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=@@@&dopt=Abstract", "publiclyVisible" : true, "published" : true, "oldId" : 17, "snippet" : true }, "idValue" : "28947124", "realUrl" : "http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=28947124&dopt=Abstract", "published" : true, "snippet" : true } ], "journal" : { "otype" : "Journal", "mtid" : 10027799, "link" : "/api/journal/10027799", "label" : "HANDBOOK OF CLINICAL NEUROLOGY 0072-9752 2212-4152", "pIssn" : "0072-9752", "eIssn" : "2212-4152", "reviewType" : "REVIEWED", "noIF" : true, "sciIndexed" : false, "scopusIndexed" : true, "lang" : "FOREIGN", "hungarian" : false, "published" : true, "oldId" : 10027799, "snippet" : true }, "volume" : "144", "firstPage" : "31", "lastPage" : "46", "firstPageOrInternalIdForSort" : "31", "pageLength" : 16, "publishedYear" : 2017, "digital" : null, "printed" : null, "sourceYear" : 2017, "packet" : "(Vécsei László (Neurológia); 2017.12.18. 17:53:40)", "foreignEdition" : true, "foreignLanguage" : true, "fullPublication" : true, "conferencePublication" : false, "nationalOrigin" : false, "missingAuthor" : false, "oaType" : "NONE", "oaCheckDate" : "2023-11-17", "oaFree" : false, "citationCount" : 0, "citationCountUnpublished" : 0, "citationCountWoOther" : 0, "independentCitCountWoOther" : 0, "doiCitationCount" : 0, "wosCitationCount" : 0, "scopusCitationCount" : 0, "independentCitationCount" : 0, "unhandledCitationCount" : 0, "citingPubCount" : 0, "independentCitingPubCount" : 0, "unhandledCitingPubCount" : 0, "citedPubCount" : 1, "citedCount" : 1, "ratings" : [ { "otype" : "SjrRating", "mtid" : 10972460, "link" : "/api/sjrrating/10972460", "label" : "sjr:Q1 (2017) Scopus - Medicine (miscellaneous) HANDBOOK OF CLINICAL NEUROLOGY 0072-9752 2212-4152", "listPos" : 574, "rankValue" : 0.24, "type" : "journal", "ratingType" : { "otype" : "RatingType", "mtid" : 10002, "link" : "/api/ratingtype/10002", "label" : "sjr", "code" : "sjr", "published" : true, "snippet" : true }, "subject" : { "otype" : "ClassificationExternal", "mtid" : 2701, "link" : "/api/classificationexternal/2701", "label" : "Scopus - Medicine (miscellaneous)", "published" : true, "oldId" : 2701, "snippet" : true }, "ranking" : "Q1", "calculation" : "DIRECT", "published" : true, "snippet" : true } ], "ratingsForSort" : "Q1", "referenceList" : "Adachi, Y., Nakashima, K., Population genetic study of Huntington's disease – prevalence and founder's effect in the San-in area, western Japan (1999) Nihon Rinsho, 57, pp. 900-904; \n\nAl-Jader, L.N., Harper, P.S., Krawczak, M., The frequency of inherited disorders database: prevalence of Huntington disease (2001) Community Genetics, 1, pp. 148-157; \n\nAlmqvist, E., Spence, N., Nichol, K., Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease (1995) Hum Mol Genet, 4, pp. 207-214; \n\nAlmqvist, E.W., Elterman, D.S., MacLeod, P.M., High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia (2001) Clin Genet, 60, pp. 198-205; \n\nAlonso, M.E., Ochoa, A., Boll, M.C., Clinical and genetic characteristics of Mexican Huntington's disease patients (2009) Mov Disord, 24, pp. 2012-2015; \n\nAmbrose, C., Duyao, M., Barnes, G., Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat (1994) Somat Cell Mol Genet, 20, pp. 27-38; \n\nAndrew, S.E., Hayden, M.R., Origins and evolution of Huntington disease chromosomes (1995) Neurodegeneration, 4, pp. 239-244; \n\nAndrew, S., Theilmann, J., Almqvist, E., DNA analysis of distinct populations suggests multiple origins for the mutation causing Huntington disease (1993) Clin Genet, 43, pp. 286-294; \n\nAndrew, S.E., Goldberg, Y.P., Kremer, B., The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease (1993) Nat Genet, 4, pp. 398-403; \n\nAndrew, S.E., Goldberg, Y.P., Kremer, B., Huntington disease without CAG expansion: phenocopies or errors in assignment? (1994) Am J Hum Genet, 54, pp. 852-863; \n\nAndrew, S.E., Goldberg, Y.P., Theilmann, J., A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing (1994) Hum Mol Genet, 3, pp. 65-67; \n\nÁvila-Girón, R., Medical and social aspects of Huntington's chorea in the state of Zulia, Venezuela (1973) Adv Neurol, 1, pp. 261-266; \n\nBaine, F.K., Kay, C., Ketelaar, M.E., Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes (2013) Eur J Hum Genet, 21, pp. 1120-1127; \n\nBarbeau, A., Coiteux, C., Trudeau, J.G., Huntington's chorea in French Canadians. Preliminary study (1964) Union Med Can, 93, pp. 1178-1182; \n\nBarron, L.H., Rae, A., Holloway, S., A single allele from the polymorphic CCG rich sequence immediately 3’ to the unstable CAG trinucleotide in the IT15 cDNA shows almost complete disequilibrium with Huntington's disease chromosomes in the Scottish population (1994) Hum Mol Genet, 3, pp. 173-175; \n\nBecanovic, K., Norremolle, A., Neal, S.J., A SNP in the HTT promoter alters NF-kappaB binding and is a bidirectional genetic modifier of Huntington disease (2015) Nat Neurosci, 18, pp. 807-816; \n\nBrinkman, R.R., Mezei, M.M., Theilmann, J., The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size (1997) Am J Hum Genet, 60, pp. 1202-1210; \n\nBrothers, C.R., Huntington's chorea in Victoria and Tasmania (1964) J Neurol Sci, 1, pp. 405-420; \n\nBurguera, J.A., Solis, P., Salazar, A., Estimate of the prevalence of Huntington disease in the Valencia region using the capture-recapture method (1997) Rev Neurol, 25, pp. 1845-1847; \n\nCalcedo Ordonez, A., Huntington's disease in the Province of Cadiz. Epidemiological and familial study (1970) Rev Clin Esp, 119, pp. 333-344; \n\nChang, C.M., Yu, Y.L., Fong, K.Y., Huntington's disease in Hong Kong Chinese: epidemiology and clinical picture (1994) Clin Exp Neurol, 31, pp. 43-51; \n\nChen, Y.Y., Lai, C.H., Nationwide population-based epidemiologic study of Huntington's disease in Taiwan (2010) Neuroepidemiology, 35, pp. 250-254; \n\nConneally, P.M., Huntington disease: genetics and epidemiology (1984) Am J Hum Genet, 36, pp. 506-526; \n\nCosta, M.C., Magalhaes, P., Guimaraes, L., The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation (2006) J Hum Genet, 51, pp. 189-195; \n\nCreighton, S., Almqvist, E.W., MacGregor, D., Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000 (2003) Clin Genet, 63, pp. 462-475; \n\nDeka, R., Guangyun, S., Smelser, D., Rate and directionality of mutations and effects of allele size constraints at anonymous, gene-associated, and disease-causing trinucleotide loci (1999) Mol Biol Evol, 16, pp. 1166-1177; \n\nDouglas, I., Evans, S., Rawlins, M.D., Juvenile Huntington's disease: a population-based study using the General Practice Research Database (2013) BMJ Open, 3; \n\nDuyao, M., Ambrose, C., Myers, R., Trinucleotide repeat length instability and age of onset in Huntington's disease (1993) Nat Genet, 4, pp. 387-392; \n\nEvans, S.J.W., Douglas, I., Rawlins, M.D., Prevalence of adult Huntington's disease in the UK based on diagnoses recorded in general practice records (2013) J Neurol Neurosurg Psychiatry, 84, pp. 1156-1160; \n\nFalush, D., Haplotype background, repeat length evolution, and Huntington's disease (2009) Am J Hum Genet, 85, pp. 939-942; \n\nFalush, D., Almqvist, E.W., Brinkmann, R.R., Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases (2001) Am J Hum Genet, 68, pp. 373-385; \n\nFisher, E.R., Hayden, M.R., Multisource ascertainment of Huntington disease in Canada: prevalence and population at risk (2014) Mov Disord, 29, pp. 105-114; \n\nFolstein, S.E., Chase, G.A., Wahl, W.E., Huntington disease in Maryland: clinical aspects of racial variation (1987) Am J Hum Genet, 41, pp. 168-179; \n\nGarcia-Planells, J., Burguera, J.A., Solis, P., Ancient origin of the CAG expansion causing Huntington disease in a Spanish population (2005) Hum Mutat, 25, pp. 453-459; \n\nGassivaro Gallo, P., Buhagiar, M., Cuschieri, A., Huntington's chorea (HD) in Malta: epidemiology and origins (1999) International Journal of Anthropology, 14, pp. 115-125; \n\nGoldberg, Y.P., Kremer, B., Andrew, S.E., Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects (1993) Nat Genet, 5, pp. 174-179; \n\nGoldberg, Y.P., Kalchman, M.A., Metzler, M., Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript (1996) Hum Mol Genet, 5, pp. 177-185; \n\nGoldman, A., Ramsay, M., Jenkins, T., Ethnicity and myotonic dystrophy: a possible explanation for its absence in sub-Saharan Africa (1996) Ann Hum Genet, 60, pp. 57-65; \n\nGusella, J.F., Wexler, N.S., Conneally, P.M., A polymorphic DNA marker genetically linked to Huntington's disease (1983) Nature, 306, pp. 234-238; \n\nHayden, M.R., MacGregor, J.M., Beighton, P.H., The prevalence of Huntington's chorea in South Africa (1980) S Afr Med J, 58, pp. 193-196; \n\nHecimovic, S., Klepac, N., Vlasic, J., Genetic background of Huntington disease in Croatia: molecular analysis of CAG, CCG, and Delta2642 (E2642del) polymorphisms (2002) Hum Mutat, 20, p. 233; \n\nHendricks, A.E., Latourelle, J.C., Lunetta, K.L., Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27–35 CAG) (2009) Am J Med Genet A, 149A, pp. 1375-1381; \n\nHolmes, S.E., O'Hearn, E., Rosenblatt, A., A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2 (2001) Nat Genet, 29, pp. 377-378; \n\nHoppitt, T., Pall, H., Calvert, M., A systematic review of the incidence and prevalence of long-term neurological conditions in the UK (2010) Neuroepidemiology, 36, pp. 19-28; \n\nHuntington, G., On chorea (1872) Medical and Surgical Reporter, 26, pp. 317-321; \n\nIkonen, E., Ignatius, J., Norio, R., Huntington disease in Finland: a molecular and genealogical study (1992) Hum Genet, 89, pp. 275-280; \n\nJakab, K., Gardian, G., Endreffy, E., Analysis of CAG repeat expansion in Huntington's disease gene (IT 15) in a Hungarian population (1999) Eur Neurol, 41, pp. 107-110; \n\nJames, C.M., Houlihan, G.D., Snell, R.G., Late-onset Huntington's disease: a clinical and molecular study (1994) Age Ageing, 23, pp. 445-448; \n\nKay, C., Collins, J.A., Skotte, N.H., Huntingtin haplotypes provide prioritized target panels for allele specific silencing in Huntington disease patients of European ancestry (2015) Mol Ther, 23, pp. 1759-1771; \n\nKay, C., Collins, J.A., Miedzybrodzka, Z., Huntington disease reduced penetrance alleles occur at high frequency in the general population (2016) Neurology, 87 (3), pp. 282-288; \n\nKirilenko, N.B., Fedotov, V.P., Baryshnikova, N.V., Nosological spectrum of hereditary diseases of the nervous system in the cities of Volgograd and Volzhsky (2004) Genetika, 40, pp. 1262-1267; \n\nKokmen, E., Ozekmekci, F.S., Beard, C.M., Incidence and prevalence of Huntington's disease in Olmsted County, Minnesota (1950 through 1989) (1994) Arch Neurol, 51, pp. 696-698; \n\nKremer, B., Goldberg, P., Andrew, S.E., A worldwide study of the Huntington's disease mutation: the sensitivity and specificity of measuring CAG repeats (1994) New England Journal of Medicine, 330, pp. 1401-1406; \n\nKutuev, I.A., Khusainova, R.I., Khidiyatova, I.M., Analysis of the IT15 gene in Huntington's disease families (2004) Russian Journal of Genetics, 40, pp. 919-925; \n\nLangbehn, D.R., Brinkman, R.R., Falush, D., A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length (2004) Clin Genet, 65, pp. 267-277; \n\nLangbehn, D.R., Hayden, M.R., Paulsen, J.S., CAG-repeat length and the age of onset in Huntington disease (HD): a review and validation study of statistical approaches (2010) Am J Med Genet B Neuropsychiatr Genet, 153B, pp. 397-408; \n\nLee, J.-M., Gillis, T., Mysore Jayalakshmi, S., Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region (2012) Am J Hum Genet, 90, pp. 434-444; \n\nLee, J.-M., Wheeler Vanessa, C., Chao Michael, J., Identification of genetic factors that modify clinical onset of Huntington's disease (2015) Cell, 162, pp. 516-526; \n\nLeger, J.M., Ronauil, R., Vallat, J.N., Huntington's chorea in Limousin: statistical and clinical study (1974) Rev Med Limoges, 5, pp. 147-153; \n\nLeung, C.M., Chan, Y.W., Chang, C.M., Huntington's disease in Chinese: a hypothesis of its origin (1992) J Neurol Neurosurg Psychiatry, 55, pp. 681-684; \n\nLoy, C.T., Lownie, A., McCusker, E., Huntington's disease (2010) Lancet, 376, p. 1463; \n\nMa, M., Yang, Y., Shang, H., Evidence for a predisposing background for CAG expansion leading to HTT mutation in a Chinese population (2010) J Neurol Sci, 298, pp. 57-60; \n\nMaat-Kievit, A., Helderman-van den Enden, P., Losekoot, M., Using a roster and haplotyping is useful in risk assessment for persons with intermediate and reduced penetrance alleles in Huntington disease (2001) Am J Med Genet, 105, pp. 737-744; \n\nMacDonald, M.E., Novelletto, A., Lin, C., The Huntington's disease candidate region exhibits many different haplotypes (1992) Nat Genet, 1, pp. 99-103; \n\nMasuda, N., Goto, J., Murayama, N., Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease (1995) J Med Genet, 32, pp. 701-705; \n\nMattsson, B., Huntington's chorea in Sweden (1974) Acta Psychiatr Scand Suppl, 255, pp. 221-235; \n\nMcCusker, E.A., Casse, R.F., Graham, S.J., Prevalence of Huntington disease in New South Wales in 1996 (2000) Med J Aust, 173, pp. 187-190; \n\nMilunsky, J.M., Maher, T.A., Loose, B.A., XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease (2003) Clin Genet, 64, pp. 70-73; \n\nMorovvati, S., Nakagawa, M., Osame, M., Analysis of CCG repeats in Huntingtin gene among HD patients and normal populations in Japan (2008) Arch Med Res, 39, pp. 131-133; \n\nMorrison, P.J., Accurate prevalence and uptake of testing for Huntington's disease (2010) Lancet Neurol, 9, p. 1147; \n\nMorrison, P.J., Johnston, W.P., Nevin, N.C., The epidemiology of Huntington's disease in Northern Ireland (1995) J Med Genet, 32, pp. 524-530; \n\nMyers, R.H., MacDonald, M.E., Koroshetz, W.J., De novo expansion of a (CAG)n repeat in sporadic Huntington's disease (1993) Nat Genet, 5, pp. 168-173; \n\nNarabayashi, H., Huntington's chorea in Japan: review of the literature (1973) Adv Neurol, 1, pp. 253-259; \n\nNewcombe, R.G., A life table for onset of Huntington's chorea (1981) Ann Hum Genet, 45, pp. 375-385; \n\nNovelletto, A., Persichetti, F., Sabbadini, G., Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease (1994) Hum Mol Genet, 3, pp. 1129-1132; \n\nPanas, M., Karadima, G., Vassos, E., Huntington's disease in Greece: the experience of 14 years (2011) Clin Genet, 80, pp. 586-590; \n\nPanse, F., Die Erbchorea: eine klinische-genetische Studie (1942), Thieme Leipzig; Paradisi, I., Hernandez, A., Arias, S., Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation (2008) J Hum Genet, 53, pp. 127-135; \n\nPerlis, R.H., Smoller, J.W., Mysore, J., Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder (2010) Am J Psychiatry, 167, pp. 574-579; \n\nPersichetti, F., Srinidhi, J., Kanaley, L., Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains (1994) Neurobiol Dis, 1, pp. 159-166; \n\nPeterlin, B., Kobal, J., Teran, N., Epidemiology of Huntington's disease in Slovenia (2009) Acta Neurol Scand, 119, pp. 371-375; \n\nPetit, H., Salomez, J.L., Huntington's disease. Contribution of clinical and epidemiological data to genetic counseling (1985) J Genet Hum, 33, pp. 91-102; \n\nPotter, N.T., Spector, E.B., Prior, T.W., Technical standards and guidelines for Huntington disease testing (2004) Genet Med, 6, pp. 61-65; \n\nPramanik, S., Basu, P., Gangopadhaya, P.K., Analysis of CAG and CCG repeats in Huntingtin gene among HD patients and normal populations of India (2000) Eur J Hum Genet, 8, pp. 678-682; \n\nPridmore, S.A., The prevalence of Huntington's disease in Tasmania (1990) Med J Aust, 153, pp. 133-134; \n\nPrzuntek, H., Steigerwald, A., Epidemiologic study of Huntington disease in the catchment area of the Wurzburg University Neurologic Clinic with special reference to the Lower Franconia district (1987) Nervenarzt, 58, pp. 424-427; \n\nQuarrell, O.W., Tyler, A., Jones, M.P., Population studies of Huntington's disease in Wales (1988) Clin Genet, 33, pp. 189-195; \n\nRamos, E.M., Keagle, P., Gillis, T., Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients (2012) Amyotroph Lateral Scler, 13, pp. 265-269; \n\nRamos, E.M., Latourelle, J.C., Lee, J.H., Population stratification may bias analysis of PGC-1alpha as a modifier of age at Huntington disease motor onset (2012) Hum Genet, 131, pp. 1833-1840; \n\nRamos-Arroyo, M.A., Moreno, S., Valiente, A., Incidence and mutation rates of Huntington's disease in Spain: experience of 9 years of direct genetic testing (2005) J Neurol Neurosurg Psychiatry, 76, pp. 337-342; \n\nReed, T.E., Chandler, J.H., Huntington's chorea in Michigan. I Demography and genetics (1958) Am J Hum Genet, 10, pp. 201-225; \n\nReilmann, R., Leavitt, B.R., Ross, C.A., Diagnostic criteria for Huntington's disease based on natural history (2014) Mov Disord, 29, pp. 1335-1341; \n\nRosenblatt, A., Ranen, N.G., Rubinsztein, D.C., Patients with features similar to Huntington's disease, without CAG expansion in huntingtin (1998) Neurology, 51, pp. 215-220; \n\nRoss, C.A., Aylward, E.H., Wild, E.J., Huntington disease: natural history, biomarkers and prospects for therapeutics (2014) Nat Rev Neurol, 10, pp. 204-216; \n\nRubinsztein, D.C., Barton, D.E., Davison, B.C., Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number (1993) Hum Mol Genet, 2, pp. 1713-1715; \n\nRubinsztein, D.C., Amos, W., Leggo, J., Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence (1994) Nat Genet, 7, pp. 525-530; \n\nRubinsztein, D.C., Leggo, J., Goodburn, S., Haplotype analysis of the delta 2642 and (CAG)n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent ‘founder’ HD haplotype (1995) Hum Mol Genet, 4, pp. 203-206; \n\nRubinsztein, D.C., Leggo, J., Coles, R., Phenotypic characterization of individuals with 30–40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36–39 repeats (1996) Am J Hum Genet, 59, pp. 16-22; \n\nRuiz, J.J., Ortin, A., Cocho, J., Corea de Huntington: estudio epidemiológico en la provincia de Salamanca (1985) Arch Neurobiol, 48, pp. 302-303; \n\nSaleem, Q., Roy, S., Murgood, U., Molecular analysis of Huntington's disease and linked polymorphisms in the Indian population (2003) Acta Neurol Scand, 108, pp. 281-286; \n\nSaugstad, L., Odegard, O., Huntington's chorea in Norway (1986) Psychol Med, 16, pp. 39-48; \n\nScholefield, J., Greenberg, J., A common SNP haplotype provides molecular proof of a founder effect of Huntington disease linking two South African populations (2007) Eur J Hum Genet, 15, pp. 590-595; \n\nScrimgeour, E.M., Huntington's disease in Tanzania (1981) J Med Genet, 18, pp. 200-203; \n\nScrimgeour, E.M., Pfumojena, J.W., Huntington disease in black Zimbabwean families living near the Mozambique border (1992) Am J Med Genet, 44, pp. 762-766; \n\nScrimgeour, E.M., Simpson, S.A., Huntington disease in black African populations (1992) Hum Genet, 90, pp. 186-187; \n\nSemaka, A., Creighton, S., Warby, S., Predictive testing for Huntington disease: interpretation and significance of intermediate alleles (2006) Clin Genet, 70, pp. 283-294; \n\nSemaka, A., Kay, C., Doty, C., CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease (2013) J Med Genet, 50, pp. 696-703; \n\nSemaka, A., Kay, C., Doty, C.N., High frequency of intermediate alleles on Huntington disease-associated haplotypes in British Columbia's general population (2013) Am J Med Genet B Neuropsychiatr Genet, 162, pp. 864-871; \n\nSepcic, J., Antonelli, L., Sepic-Grahovac, D., Epidemiology of Huntington's disease in Rijeka district, Yugoslavia (1989) Neuroepidemiology, 8, pp. 105-108; \n\nSequeiros, J., Ramos, E.M., Cerqueira, J., Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population (2010) Clin Genet, 78, pp. 381-387; \n\nShaw, M., Caro, A., The mutation rate to Huntington's chorea (1982) J Med Genet, 19, pp. 161-167; \n\nShiwach, R.S., Lindenbaum, R.H., Prevalence of Huntington's disease among UK immigrants from the Indian subcontinent (1990) Br J Psychiatry, 157, pp. 598-599; \n\nShokeir, M.H., Investigations on Huntington's disease in the Canadian Prairies. I Prevalence (1975) Clin Genet, 7, pp. 345-348; \n\nSiesling, S., Vegter-van de Vlis, M., Losekoot, M., Family history and DNA analysis in patients with suspected Huntington's disease (2000) J Neurol Neurosurg Psychiatry, 69, pp. 54-59; \n\nSipila, J.O., Hietala, M., Siitonen, A., Epidemiology of Huntington's disease in Finland (2014) Parkinsonism Relat Disord, 21, pp. 46-49; \n\nSnell, R.G., MacMillan, J.C., Cheadle, J.P., Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease (1993) Nat Genet, 4, pp. 393-397; \n\nSoong, B.W., Wang, J.T., A comparison of the Huntington's disease associated trinucleotide repeat between Chinese and white populations (1995) J Med Genet, 32, pp. 404-405; \n\nSquitieri, F., Andrew, S.E., Goldberg, Y.P., DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence (1994) Hum Mol Genet, 3, pp. 2103-2114; \n\nSquitieri, F., Griguoli, A., Capelli, G., Epidemiology of Huntington disease: first post-HTT gene analysis of prevalence in Italy (2016) Clin Genet, 89, pp. 367-370; \n\nSveinsson, O., Halldorsson, S., Olafsson, E., An unusually low prevalence of Huntington's disease in Iceland (2012) Eur Neurol, 68, pp. 48-51; \n\nThe Huntington's Disease Collaborative Research Group, A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes (1993) Cell, 72, pp. 971-983; \n\nTrottier, Y., Devys, D., Imbert, G., Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form (1995) Nat Genet, 10, pp. 104-110; \n\nVuillaume, I., Vermersch, P., Destee, A., Genetic polymorphisms adjacent to the CAG repeat influence clinical features at onset in Huntington's disease (1998) J Neurol Neurosurg Psychiatry, 64, pp. 758-762; \n\nWalker, D.A., Harper, P.S., Wells, C.E., Huntington's chorea in South Wales. A genetic and epidemiological study (1981) Clin Genet, 19, pp. 213-221; \n\nWang, C.K., Wu, Y.R., Hwu, W.L., DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients (2004) Eur Neurol, 52, pp. 96-100; \n\nWarby, S.C., Montpetit, A., Hayden, A.R., CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup (2009) Am J Hum Genet, 84, pp. 351-366; \n\nWarby, S.C., Visscher, H., Collins, J.A., HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia (2011) Eur J Hum Genet, 19, pp. 561-566; \n\nWarner, J.P., Barron, L.H., Brock, D.J., A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes (1993) Mol Cell Probes, 7, pp. 235-239; \n\nWasmuth, J.J., Hewitt, J., Smith, B., A highly polymorphic locus very tightly linked to the Huntington's disease gene (1988) Nature, 332, pp. 734-736; \n\nWatkins, W.S., Bamshad, M., Jorde, L.B., Population genetics of trinucleotide repeat polymorphisms (1995) Hum Mol Genet, 4, pp. 1485-1491; \n\nWendt, C., Drohm, D., Die huntingtonsche Chorea (1972) Eine populations-genetische Studie, , Thieme Stuttgart; \n\nWexler, A., Stigma, history, and Huntington's disease (2010) The Lancet, 376, pp. 18-19; \n\nWexler, N.S., Lorimer, J., Porter, J., Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset (2004) Proc Natl Acad Sci U S A, 101, pp. 3498-3503; \n\nWild, E.J., Mudanohwo, E.E., Sweeney, M.G., Huntington's disease phenocopies are clinically and genetically heterogeneous (2008) Mov Disord, 23, pp. 716-720; \n\nWright, H.H., Still, C.N., Abramson, R.K., Huntington's disease in black kindreds in South Carolina (1981) Arch Neurol, 38, pp. 412-414; \n\nYanagisawa, H., Fujii, K., Nagafuchi, S., A unique origin and multistep process for the generation of expanded DRPLA triplet repeats (1996) Hum Mol Genet, 5, pp. 373-379; \n\nYapijakis, C., Vassilopoulos, D., Tzagournisakis, M., Linkage disequilibrium between the expanded (CAG)n repeat and an allele of the adjacent (CCG)n repeat in Huntington's disease patients of Greek origin (1995) Eur J Hum Genet, 3, pp. 228-234", "hasCitationDuplums" : false, "userChangeableUntil" : "2018-03-18T20:06:58.000+0000", "publishDate" : "2017-12-18T20:06:58.000+0000", "directInstitutesForSort" : "", "ownerAuthorCount" : 7, "ownerInstituteCount" : 17, "directInstituteCount" : 0, "authorCount" : 3, "contributorCount" : 0, "hasQualityFactor" : false, "link" : "/api/publication/27009549", "label" : "Kay C et al. Epidemiology of Huntington disease. (2017) HANDBOOK OF CLINICAL NEUROLOGY 0072-9752 2212-4152 144 31-46", "template" : "