{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T09:34:33Z","timestamp":1790674473127,"version":"4.1.0"},"reference-count":42,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2007,12,22]],"date-time":"2007-12-22T00:00:00Z","timestamp":1198281600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2008,2]]},"DOI":"10.1007\/s10038-007-0227-1","type":"journal-article","created":{"date-parts":[[2007,12,21]],"date-time":"2007-12-21T14:01:08Z","timestamp":1198245668000},"page":"127-135","source":"Crossref","is-referenced-by-count":53,"title":["Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation"],"prefix":"10.1038","volume":"53","author":[{"given":"Irene","family":"Paradisi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alba","family":"Hern\u00e1ndez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio","family":"Arias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2007,12,22]]},"reference":[{"key":"227_CR1","first-page":"70","volume":"12","author":"HS Alfonso","year":"1996","unstructured":"Alfonso HS, Daza J, Carbonell C, Brokate F, Caiffa H (1996) Caracterizaci\u00f3n de las secuencias polim\u00f3rficas de tripletes CAG y CCG del gen de la enfermedad de Huntington en familias colombianas. Acta M\u00e9d Colomb 12:70\u201375","journal-title":"Acta M\u00e9d Colomb"},{"key":"227_CR2","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1093\/hmg\/4.2.207","volume":"4","author":"E Almqvist","year":"1995","unstructured":"Almqvist E, Spence N, Nichol K, Andrew SE, Vesa J, Peltonen L, Anvret M, Goto J, Kanazawa I, Goldberg YP, Hayden MR (1995) 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. Hum Mol Genet 4:207\u2013214","journal-title":"Hum Mol Genet"},{"key":"227_CR3","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1111\/j.1399-0004.1997.tb02459.x","volume":"51","author":"ME Alonso","year":"1997","unstructured":"Alonso ME, Yescas P, Cisneros B, Mart\u00ednez C, Silva G, Ochoa A, Montanez C (1997) Analysis of the (CAG)n repeat causing Huntington\u2019s disease in a Mexican population. Clin Genet 51:225\u2013230","journal-title":"Clin Genet"},{"key":"227_CR4","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1136\/jmg.2006.045153","volume":"44","author":"JM Andresen","year":"2007","unstructured":"Andresen JM, Gay\u00e1n J, Cherny SS, Brocklebank D, Alkorta-Aranburu G, Addis EA, The US\u2013Venezuelan Collaborative Research Group, Cardon LR, Housman DE, Wexler NS (2007) Replication of twelve association studies for Huntington\u2019s disease residual age of onset in large Venezuelan kindreds. J Med Genet 44:44\u201350","journal-title":"J Med Genet"},{"key":"227_CR5","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1093\/hmg\/3.1.65","volume":"3","author":"S Andrew","year":"1994","unstructured":"Andrew S, Goldberg YP, Theilmann J, Zeisler J, Hayden MR (1994) A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet 3:65\u201367","journal-title":"Hum Mol Genet"},{"key":"227_CR6","unstructured":"Arias S (1994) Selective detection among the high risk populations, instead of mass screening, proposed for countries with various homogeneous origins, and a stratified distribution of abnormal genes. In: Farriaux JP, Dhondt L (eds) New horizons in neonatal screening. Excerpta Med Int Cong Ser 1041:97\u2013100"},{"issue":"Suppl 1","key":"227_CR7","first-page":"60","volume":"47","author":"S Arias","year":"1996","unstructured":"Arias S, Paradisi I (1996) Supratipos (=haplotipos) con marcadores de IDUA (intr\u00f3n 2 y ex\u00f3n 3) y D4S43, para identificar alelos anormales en IT15 (Corea de Huntington) y en IDUA (mucopolisacaridosis IH). Acta Cient Venez 47[Suppl 1]:60","journal-title":"Acta Cient Venez"},{"key":"227_CR8","first-page":"261","volume":"1","author":"R Avila-Gir\u00f3n","year":"1973","unstructured":"Avila-Gir\u00f3n R (1973) Medical and social aspects of Huntington\u2019s chorea in the state of Zulia, Venezuela. Adv Neurol 1:261\u2013266","journal-title":"Adv Neurol"},{"key":"227_CR9","first-page":"107","volume":"32","author":"E Bonilla","year":"1991","unstructured":"Bonilla E (1991) \u00bfPor qu\u00e9 es importante el estudio de la Enfermedad de Huntington en Venezuela? Invest Clin 32:107\u2013108","journal-title":"Invest Clin"},{"key":"227_CR10","first-page":"1450","volume":"51","author":"B Brandt","year":"1992","unstructured":"Brandt B, Greger V, Yandell D, Passarge E, Horsthemke B (1992) A simple and nonradioactive method for detecting the Rb1.20 DNA polymorphism in the retinoblastoma gene. Am J Hum Genet 51:1450\u20131451","journal-title":"Am J Hum Genet"},{"key":"227_CR11","first-page":"1202","volume":"60","author":"R Brinkman","year":"1997","unstructured":"Brinkman R, Mezei M, Theilmann J, Almqvist E, Hayden M (1997) The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am J Hum Genet 60:1202\u20131210","journal-title":"Am J Hum Genet"},{"key":"227_CR12","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1136\/jmg.34.5.371","volume":"34","author":"R Coles","year":"1997","unstructured":"Coles R, Leggo J, Rubinsztein DC (1997) Analysis of the 5\u2032 upstream sequence of the Huntington\u2019s disease (HD) gene shows six new rare alleles which are unrelated to the age at onset of HD. J Med Genet 34:371\u2013374","journal-title":"J Med Genet"},{"key":"227_CR13","first-page":"151","volume":"142","author":"JM Cuba","year":"1986","unstructured":"Cuba JM (1986) Un foyer de Chor\u00e9e de Huntington au P\u00e9rou. Rev Neurol (Paris) 142:151\u2013153","journal-title":"Rev Neurol (Paris)"},{"key":"227_CR14","first-page":"482","volume":"145","author":"JM Cuba","year":"1989","unstructured":"Cuba JM, Torres L (1989) Huit arbres g\u00e9n\u00e9alogiques de Chor\u00e9e de Huntington \u00e0 Ca\u00f1ete (P\u00e9rou). Rev Neurol (Paris) 145:482\u2013484","journal-title":"Rev Neurol (Paris)"},{"key":"227_CR15","unstructured":"FIDD (Frequency of Inherited Disorders Database) (2007) Available at: http:\/\/www.uwcm.ac.uk\/uwcm\/mg\/fidd"},{"key":"227_CR16","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1093\/clinchem\/36.4.695","volume":"36","author":"KJ Friedman","year":"1990","unstructured":"Friedman KJ, Highsmith WE, Prior TW, Perry T, Silverman LM (1990) Cystic fibrosis deletion mutation detected by PCR-mediated site-directed mutagenesis. Clin Chem 36:695\u2013696","journal-title":"Clin Chem"},{"key":"227_CR17","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1002\/humu.20167","volume":"25","author":"JG Garc\u00eda-Planells","year":"2005","unstructured":"Garc\u00eda-Planells JG, Burguera JA, Sol\u00eds P, Mill\u00e1n JM, Ginestar D, Palau F, Espinos C (2005) Ancient origin of the CAG expansion causing Huntington disease in a Spanish population. Hum Mutat 25:453\u2013459","journal-title":"Hum Mutat"},{"key":"227_CR18","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1038\/306234a0","volume":"306","author":"JF Gusella","year":"1983","unstructured":"Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Otttina K, Wallace MR, Sakaguchi AY, Young AB, Shoulson I, Bonilla E, Martin JB (1983) A polymorphic marker genetically linked to Huntington\u2019s disease. Nature 306:234\u2013238","journal-title":"Nature"},{"key":"227_CR19","doi-asserted-by":"publisher","first-page":"1320","DOI":"10.1126\/science.6089346","volume":"225","author":"JF Gusella","year":"1984","unstructured":"Gusella JF, Tanzi R, Anderson MA, Hobbs W, Gibbons K, Raschtchian R, Gilliam TC, Wallace MR, Wexler NS, Conneally PM (1984) DNA markers for nervous system diseases. Science 225:1320\u20131326","journal-title":"Science"},{"key":"227_CR20","doi-asserted-by":"publisher","first-page":"971","DOI":"10.1016\/0092-8674(93)90585-E","volume":"72","author":"HDCG","year":"1993","unstructured":"HDCG (1993) A novel gene containing a trinucleotide repeat that is unstable in Huntington\u2019s disease chromosomes. The Huntington\u2019s Disease Collaborative Research Group. Cell 72:971\u2013983","journal-title":"Cell"},{"key":"227_CR21","first-page":"335","volume":"17","author":"E Kartsaki","year":"2006","unstructured":"Kartsaki E, Spanaki C, Tzagournissakis M, Petsakou A, Moschonas N, MacDonald M, Plaitakis A (2006) Late-onset typical Huntington disease families from Crete have distinct genetic origins. Int J Mol Med 17:335\u2013346","journal-title":"Int J Mol Med"},{"key":"227_CR22","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1093\/genetics\/142.4.1321","volume":"142","author":"CJ Kolman","year":"1996","unstructured":"Kolman CJ, Sambuughin N, Bermingham E (1996) Mitochondrial DNA analysis of Mongolian populations and implications for the origin of New World founders. Genetics 142:1321\u20131334","journal-title":"Genetics"},{"key":"227_CR23","doi-asserted-by":"publisher","first-page":"1401","DOI":"10.1056\/NEJM199405193302001","volume":"330","author":"B Kremer","year":"1994","unstructured":"Kremer B, Goldberg P, Andrew S, Theilmann J, Telenius H, Zeisler J, Squitieri F, Lin B, Basset A, Almqvist E, Bird T, Hayden M (1994) A worldwide study of the Huntington\u2019s disease mutation. N Engl J Med 330:1401\u20131406","journal-title":"N Engl J Med"},{"key":"227_CR24","doi-asserted-by":"publisher","first-page":"5444","DOI":"10.1093\/nar\/19.19.5444","volume":"19","author":"D Lahiri","year":"1991","unstructured":"Lahiri D, Nurnberger J (1991) A rapid and non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 19:5444","journal-title":"Nucleic Acids Res"},{"key":"227_CR25","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1136\/jmg.32.9.701","volume":"32","author":"N Masuda","year":"1995","unstructured":"Masuda N, Goto J, Murayama N, Watanabe M, Kondo I, Kanazawa I (1995) Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington\u2019s disease. J Med Genet 32:701\u2013705","journal-title":"J Med Genet"},{"key":"227_CR26","unstructured":"Negrette A (1962) Corea de Huntington. Facultad de Medicina, Universidad del Zulia, Maracaibo"},{"key":"227_CR27","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1212\/01.WNL.0000129827.16522.78","volume":"63","author":"MS Okun","year":"2004","unstructured":"Okun MS, Thommi N (2004) Americo Negrette (1924 to 2003) diagnosing Huntington disease in Venezuela. Neurology 63:340\u2013343","journal-title":"Neurology"},{"key":"227_CR28","unstructured":"Osorio FE (1996) Los Andes venezolanos. Proceso social y estructura demogr\u00e1fica (1800\u20131873). Universidad de los Andes, Cons. Publ., M\u00e9rida"},{"key":"227_CR29","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1002\/mds.870050202","volume":"5","author":"JB Penney","year":"1990","unstructured":"Penney JB, Young AB, Shoulson I, Starosta-Rubinstein S, Snodgrass SR, S\u00e1nchez-Ramos J, Ramos-Arroyo M, G\u00f3mez F, Penchaszadeh G, Alvir J (1990) Huntington\u2019s disease in Venezuela: 7\u00a0years of follow-up on symptomatic and asymptomatic individuals. Mov Disord 5:93\u201399","journal-title":"Mov Disord"},{"key":"227_CR30","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1002\/ana.410410521","volume":"41","author":"JB Penney","year":"1997","unstructured":"Penney JB, Vonsattel JP, MacDonald ME., Gusella JF, Myers RH (1997) CAG repeat number governs the development rate of pathology in Huntington\u2019s disease. Ann Neurol 41:689\u2013692","journal-title":"Ann Neurol"},{"key":"227_CR31","first-page":"593","volume":"57","author":"NG Ranen","year":"1995","unstructured":"Ranen NG, Stine OC, Abbott MH, Sherr M, Codori AM, Chao NI, Chung AS, Pleasant N, Callahan C (1995) Anticipation and instability of IT-15 (CAG)n repeats in parent\u2013offspring pairs with Huntington disease. Am J Hum Genet 57:593\u2013602","journal-title":"Am J Hum Genet"},{"key":"227_CR32","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1590\/S0004-282X2000000600001","volume":"58","author":"S Raskin","year":"2000","unstructured":"Raskin S, Allan N, Teive H, Cardoso F, Santoro M, Levi G, Boy R, Lerena J, Santos V, Janzen-D\u00fcck M, Bannach L, Fellander F, Franco A (2000) Huntington disease: DNA analysis in Brazilian population. Arq Neuropsiquiatr 58:977\u2013985","journal-title":"Arq Neuropsiquiatr"},{"key":"227_CR33","first-page":"539","volume":"6","author":"DA Roff","year":"1989","unstructured":"Roff DA, Bentzen P (1989) The statistical analysis of mitochondrial DNA polymorphisms: \u03c72 and the problem of small samples. Mol Biol Evol 6:539\u2013545","journal-title":"Mol Biol Evol"},{"key":"227_CR34","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1093\/hmg\/4.2.203","volume":"4","author":"DC Rubinsztein","year":"1995","unstructured":"Rubinsztein DC, Leggo J, Goodburn S, Barton DE, Ferguson-Smith MA (1995) Haplotype analysis of the \u03942642 and (CAG)n polymorphisms in the Huntington\u00b4s disease (HD) gene provides an explanation for an apparent \u2018founder\u2019 HD haplotype. Hum Mol Genet 4:203\u2013206","journal-title":"Hum Mol Genet"},{"key":"227_CR35","doi-asserted-by":"publisher","first-page":"3872","DOI":"10.1073\/pnas.94.8.3872","volume":"94","author":"DC Rubinsztein","year":"1997","unstructured":"Rubinsztein DC, Leggo J, Chiano M, Dodge A, Norbury G, Rosser E, Craufurd D (1997) Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease. Proc Natl Acad Sci USA 94:3872\u20133876","journal-title":"Proc Natl Acad Sci USA"},{"key":"227_CR36","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1038\/ng0893-393","volume":"4","author":"R Snell","year":"1993","unstructured":"Snell R, MacMillan J, Cheadle J, Fenton I, Lazarou LP, Davies P, MacDonald ME, Gusella JF, Harper PS, Shaw DJ (1993) Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington\u2019s disease. Nat Genet 4:393\u2013397","journal-title":"Nat Genet"},{"key":"227_CR37","doi-asserted-by":"publisher","first-page":"2103","DOI":"10.1093\/hmg\/3.12.2103","volume":"3","author":"F Squitieri","year":"1994","unstructured":"Squitieri F, Andrew SE, Goldberg YP, Kremer B, Spence N, Zeisler J, Nichol K, Theilmann J, Greeberg J, Goto J, Kanazawa I, Vesa J, Peltonen L, Almqvist E, Anvret M, Telenius H, Lin B, Napolitano G, Morgan K, Hayden MR (1994) DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence. Hum Mol Genet 3:2103\u20132114","journal-title":"Hum Mol Genet"},{"key":"227_CR38","doi-asserted-by":"publisher","first-page":"1001","DOI":"10.1016\/S0198-8859(01)00301-9","volume":"62","author":"K Tokunaga","year":"2001","unstructured":"Tokunaga K, Ohashi J, Bannai M, Juji T (2001) Genetic link between Asians and native Americans: evidence from HLA genes and haplotypes. Hum Immunol 62:1001\u20131008","journal-title":"Hum Immunol"},{"key":"227_CR39","first-page":"102","volume":"45","author":"L Torres","year":"2006","unstructured":"Torres L, Mori N, Mendoza M, Montoya J, Cuentas M, Dom\u00ednguez J, Mendoza H, P\u00e9rez D, Mazzetti P (2006) Estudio cl\u00ednico molecular de la enfermedad de Huntington en pacientes del Valle de Ca\u00f1ete-Per\u00fa. Diagn\u00f3stico 45:102\u2013108","journal-title":"Diagn\u00f3stico"},{"key":"227_CR40","doi-asserted-by":"publisher","first-page":"194","DOI":"10.1038\/326194a0","volume":"326","author":"N Wexler","year":"1987","unstructured":"Wexler N, Young A, Tanzi R, Travers H, Starosta-Rubinstein S, Penney J, Snodgrass R, Shoulson I, G\u00f3mez F, Ramos Arroyo M, Penchaszadeh G, Moreno H, Gibbons K, Faryniarz A, Hobbs W, Anderson M, Bonilla E, Conneally P, Gusella J (1987) Homozygotes for Huntington\u2019s disease. Nature 326:194\u2013197","journal-title":"Nature"},{"key":"227_CR41","doi-asserted-by":"publisher","first-page":"3498","DOI":"10.1073\/pnas.0308679101","volume":"101","author":"NS Wexler","year":"2004","unstructured":"Wexler NS, Lorimer J, Porter J, G\u00f3mez F, Moskowitz C, Shackell E, Marder K, Penchaszadeh G, Roberts SA, Gay\u00e1n J, Brocklebank D, Cherny SS, Cardon LR, Gray J, Dlouhy SR, Wiktorski S, Hodes ME, Conneally PM, Penney JB, Gusella J, Cha JH, Irizarry M, Rosas D, Hersch S, Hollingsworth Z, MacDonald M, Young AB, Andresen JM, Housman DE, De Young MM, Bonilla E, Stillings T, Negrette A, Snodgrass SR, Martinez-Jaurrieta MD, Ramos-Arroyo MA, Bickham J, Ramos JS, Marshall F, Shoulson I, Rey GJ, Feigin A, Arnheim N, Acevedo-Cruz A, Acosta L, Alvir J, Fischbeck K, Thompson LM, Young A, Dure L, O\u2019Brien CJ, Paulsen J, Brickman A, Krch D, Peery S, Hogarth P, Higgins DS Jr, Landwehrmeyer B, U.S.-Venezuela Collaborative Research Project (2004) Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington\u2019s disease age of onset. Proc Natl Acad Sci USA 101:3498\u20133503","journal-title":"Proc Natl Acad Sci USA"},{"key":"227_CR42","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1212\/WNL.36.2.244","volume":"36","author":"AB Young","year":"1986","unstructured":"Young AB, Shoulson I, Penney JB, Starosta-Rubinstein S, G\u00f3mez F, Travers H, Ramos-Arroyo MA, Snodgrass SR, Bonilla E, Moreno H (1986) Huntington\u2019s disease in Venezuela: neurological features and functional decline. Neurology 36:244\u2013249","journal-title":"Neurology"}],"updated-by":[{"DOI":"10.1007\/s10038-008-0256-4","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2008,3,19]],"date-time":"2008-03-19T00:00:00Z","timestamp":1205884800000}}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg2008215.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg2008215","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg2008215.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T19:36:45Z","timestamp":1638387405000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg2008215"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,12,22]]},"references-count":42,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2008,2]]}},"alternative-id":["227"],"URL":"https:\/\/doi.org\/10.1007\/s10038-007-0227-1","relation":{"erratum":[{"id-type":"doi","id":"10.1007\/s10038-008-0256-4","asserted-by":"object"}]},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,12,22]]}}}