{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,26]],"date-time":"2025-06-26T04:13:49Z","timestamp":1750911229132,"version":"3.37.3"},"reference-count":65,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2017,10,19]],"date-time":"2017-10-19T00:00:00Z","timestamp":1508371200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Community Genet"],"published-print":{"date-parts":[[2018,1]]},"DOI":"10.1007\/s12687-017-0338-0","type":"journal-article","created":{"date-parts":[[2017,10,19]],"date-time":"2017-10-19T02:39:42Z","timestamp":1508380782000},"page":"93-99","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Life paths of patients with transthyretin-related familial amyloid polyneuropathy Val30Met: a descriptive study"],"prefix":"10.1007","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5364-8095","authenticated-orcid":false,"given":"Alice","family":"Lopes","sequence":"first","affiliation":[]},{"given":"Alexandra","family":"Sousa","sequence":"additional","affiliation":[]},{"given":"Isabel","family":"Fonseca","sequence":"additional","affiliation":[]},{"given":"Margarida","family":"Branco","sequence":"additional","affiliation":[]},{"given":"Carla","family":"Rodrigues","sequence":"additional","affiliation":[]},{"given":"Teresa","family":"Coelho","sequence":"additional","affiliation":[]},{"given":"Jorge","family":"Sequeiros","sequence":"additional","affiliation":[]},{"given":"Paula","family":"Freitas","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2017,10,19]]},"reference":[{"key":"338_CR1","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1177\/1756285612470192","volume":"6","author":"D Adams","year":"2013","unstructured":"Adams D (2013) Recent advances in the treatment of familial amyloid polyneuropathy. Ther Adv Neurol Disord 6:129\u2013139. https:\/\/doi.org\/10.1177\/1756285612470192","journal-title":"Ther Adv Neurol Disord"},{"issue":"Pt 7","key":"338_CR2","doi-asserted-by":"crossref","first-page":"1495","DOI":"10.1093\/brain\/123.7.1495","volume":"123","author":"D Adams","year":"2000","unstructured":"Adams D et al (2000) The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation. Brain 123(Pt 7):1495\u20131504","journal-title":"Brain"},{"key":"338_CR3","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1038\/sj.mp.4000473","volume":"4","author":"O Agid","year":"1999","unstructured":"Agid O et al (1999) Environment and vulnerability to major psychiatric illness: a case control study of early parental loss in major depression, bipolar disorder and schizophrenia. Mol Psychiatry 4:163\u2013172","journal-title":"Mol Psychiatry"},{"key":"338_CR4","doi-asserted-by":"crossref","first-page":"2312","DOI":"10.2174\/092986712800269317","volume":"19","author":"Y Ando","year":"2012","unstructured":"Ando Y, Ueda M (2012) Diagnosis and therapeutic approaches to transthyretin amyloidosis. Curr Med Chem 19:2312\u20132323","journal-title":"Curr Med Chem"},{"key":"338_CR5","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1093\/brain\/75.3.408","volume":"75","author":"C Andrade","year":"1952","unstructured":"Andrade C (1952) A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 75:408\u2013427","journal-title":"Brain"},{"key":"338_CR6","doi-asserted-by":"publisher","first-page":"1373","DOI":"10.1097\/IAE.0b013e318203c0c2","volume":"31","author":"NM Beirao","year":"2011","unstructured":"Beirao NM, Matos E, Beirao I, Costa PP, Torres P (2011) Recurrence of vitreous amyloidosis and need of surgical reintervention in Portuguese patients with familial amyloidosis ATTR V30M. Retina 31:1373\u20131377. https:\/\/doi.org\/10.1097\/IAE.0b013e318203c0c2","journal-title":"Retina"},{"key":"338_CR7","doi-asserted-by":"publisher","first-page":"732","DOI":"10.1016\/j.jpsychires.2010.01.004","volume":"44","author":"C Benjet","year":"2010","unstructured":"Benjet C, Borges G, Medina-Mora ME (2010) Chronic childhood adversity and onset of psychopathology during three life stages: childhood, adolescence and adulthood. J Psychiatr Res 44:732\u2013740. https:\/\/doi.org\/10.1016\/j.jpsychires.2010.01.004","journal-title":"J Psychiatr Res"},{"key":"338_CR8","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1002\/mus.20821","volume":"36","author":"MD Benson","year":"2007","unstructured":"Benson MD, Kincaid JC (2007) The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 36:411\u2013423. https:\/\/doi.org\/10.1002\/mus.20821","journal-title":"Muscle Nerve"},{"key":"338_CR9","doi-asserted-by":"crossref","first-page":"2658","DOI":"10.1001\/jama.2013.283815","volume":"310","author":"JL Berk","year":"2013","unstructured":"Berk JL et al (2013) Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA 310:2658\u20132667","journal-title":"JAMA"},{"key":"338_CR10","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1177\/0269215510367982","volume":"24","author":"A Bogosian","year":"2010","unstructured":"Bogosian A, Moss-Morris R, Hadwin J (2010) Psychosocial adjustment in children and adolescents with a parent with multiple sclerosis: a systematic review. Clin Rehabil 24:789\u2013801","journal-title":"Clin Rehabil"},{"key":"338_CR11","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1001\/archpsyc.1988.01800350021003","volume":"45","author":"A Breier","year":"1988","unstructured":"Breier A, Kelsoe JR Jr, Kirwin PD, Beller SA, Wolkowitz OM, Pickar D (1988) Early parental loss and development of adult psychopathology. Arch Gen Psychiatry 45:987\u2013993","journal-title":"Arch Gen Psychiatry"},{"key":"338_CR12","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1192\/bjp.130.1.1","volume":"130","author":"GW Brown","year":"1977","unstructured":"Brown GW, Harris T, Copeland JR (1977) Depression and loss. Br J Psychiatry 130:1\u201318. https:\/\/doi.org\/10.1192\/bjp.130.1.1","journal-title":"Br J Psychiatry"},{"key":"338_CR13","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1002\/pd.250","volume":"21","author":"F Carvalho","year":"2001","unstructured":"Carvalho F, Sousa M, Fernandes S, Silva J, Saraiva MJ, Barros A (2001) Preimplantation genetic diagnosis for familial amyloidotic polyneuropathy (FAP). Prenat Diagn 21:1093\u20131099","journal-title":"Prenat Diagn"},{"key":"338_CR14","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1097\/01.chi.0000215327.58799.05","volume":"45","author":"J Cerel","year":"2006","unstructured":"Cerel J, Fristad MA, Verducci J, Weller RA, Weller EB (2006) Childhood bereavement: psychopathology in the 2 years postparental death. J Am Acad Child Adolesc Psychiatry 45:681\u2013690. https:\/\/doi.org\/10.1097\/01.chi.0000215327.58799.05","journal-title":"J Am Acad Child Adolesc Psychiatry"},{"key":"338_CR15","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1136\/jmg.31.4.293","volume":"31","author":"T Coelho","year":"1994","unstructured":"Coelho T, Sousa A, Lourenco E, Ramalheira J (1994) A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected. J Med Genet 31:293\u2013299","journal-title":"J Med Genet"},{"key":"338_CR16","doi-asserted-by":"publisher","first-page":"819","DOI":"10.1056\/NEJMoa1208760","volume":"369","author":"T Coelho","year":"2013","unstructured":"Coelho T et al (2013) Safety and efficacy of RNAi therapy for transthyretin amyloidosis. N Engl J Med 369:819\u2013829. https:\/\/doi.org\/10.1056\/NEJMoa1208760","journal-title":"N Engl J Med"},{"key":"338_CR17","doi-asserted-by":"publisher","first-page":"71","DOI":"10.3109\/13506129.2012.673184","volume":"19","author":"I Concei\u00e7\u00e3o","year":"2012","unstructured":"Concei\u00e7\u00e3o I (2012) Clinical features of TTR-FAP in Portugal. Amyloid 19:71\u201372. https:\/\/doi.org\/10.3109\/13506129.2012.673184","journal-title":"Amyloid"},{"key":"338_CR18","unstructured":"Coutinho P, Martins da Silva A, Lopes Lima J, Resende Barbosa A (1980) Forty years of experience with type I amyloid neuropathy. In eds GG (ed) Amyloid and amyloidosis. Amsterdam"},{"key":"338_CR19","doi-asserted-by":"publisher","first-page":"1012","DOI":"10.1038\/ejhg.2013.277","volume":"22","author":"J Dreesen","year":"2014","unstructured":"Dreesen J et al (2014) Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study. Eur J Hum Genet 22:1012\u20131018. https:\/\/doi.org\/10.1038\/ejhg.2013.277","journal-title":"Eur J Hum Genet"},{"key":"338_CR20","doi-asserted-by":"publisher","first-page":"1847","DOI":"10.1097\/tp.0000000000000574","volume":"99","author":"BG Ericzon","year":"2015","unstructured":"Ericzon BG et al (2015) Liver transplantation for hereditary Transthyretin amyloidosis: after 20 years still the best therapeutic alternative? Transplantation 99:1847\u20131854. https:\/\/doi.org\/10.1097\/tp.0000000000000574","journal-title":"Transplantation"},{"key":"338_CR21","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1159\/000082262","volume":"7","author":"C Gonzalez","year":"2004","unstructured":"Gonzalez C, Lima M, Kay T, Silva C, Santos C, Santos J (2004) Short-term psychological impact of predictive testing for Machado-Joseph disease: depression and anxiety levels in individuals at risk from the Azores (Portugal). Community Genet 7:196\u2013201. https:\/\/doi.org\/10.1159\/000082262","journal-title":"Community Genet"},{"key":"338_CR22","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1089\/gtmb.2011.0370","volume":"16","author":"C Gonzalez","year":"2012","unstructured":"Gonzalez C et al (2012) Psychological well-being and family satisfaction levels five years after being confirmed as a carrier of the Machado-Joseph disease mutation. Genet Test Mol Biomarkers 16:1363\u20131368","journal-title":"Genet Test Mol Biomarkers"},{"key":"338_CR23","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1111\/j.1399-0004.1991.tb03085.x","volume":"40","author":"G Holmgren","year":"1991","unstructured":"Holmgren G et al (1991) Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30). Clin Genet 40:242\u2013246","journal-title":"Clin Genet"},{"key":"338_CR24","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1136\/jmg.31.5.351","volume":"31","author":"G Holmgren","year":"1994","unstructured":"Holmgren G et al (1994) Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate. J Med Genet 31:351\u2013354","journal-title":"J Med Genet"},{"key":"338_CR25","doi-asserted-by":"publisher","first-page":"1637","DOI":"10.1111\/j.1742-4658.2007.05712.x","volume":"274","author":"X Hou","year":"2007","unstructured":"Hou X, Aguilar MI, Small DH (2007) Transthyretin and familial amyloidotic polyneuropathy. Recent progress in understanding the molecular mechanism of neurodegeneration. FEBS J 274:1637\u20131650. https:\/\/doi.org\/10.1111\/j.1742-4658.2007.05712.x","journal-title":"FEBS J"},{"key":"338_CR26","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1111\/j.1600-0447.2009.01491.x","volume":"122","author":"JG Hovens","year":"2010","unstructured":"Hovens JG, Wiersma JE, Giltay EJ, van Oppen P, Spinhoven P, Penninx BW, Zitman FG (2010) Childhood life events and childhood trauma in adult patients with depressive, anxiety and comorbid disorders vs. controls. Acta Psychiatr Scand 122:66\u201374. https:\/\/doi.org\/10.1111\/j.1600-0447.2009.01491.x","journal-title":"Acta Psychiatr Scand"},{"key":"338_CR27","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1046\/j.1365-2648.1998.00503.x","volume":"27","author":"E Jonsen","year":"1998","unstructured":"Jonsen E, Athlin E, Suhr O (1998) Familial amyloidotic patients\u2019 experience of the disease and of liver transplantation. J Adv Nurs 27:52\u201358","journal-title":"J Adv Nurs"},{"key":"338_CR28","doi-asserted-by":"crossref","first-page":"1771","DOI":"10.1001\/archneur.59.11.1771","volume":"59","author":"H Koike","year":"2002","unstructured":"Koike H et al (2002) Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form. Arch Neurol 59:1771\u20131776","journal-title":"Arch Neurol"},{"key":"338_CR29","doi-asserted-by":"crossref","unstructured":"Koike H, Tanaka F, Hashimoto R, Tomita M, Kawagashira Y, Iijima M, Fujitake J, Kawanami T, Kato T, Yamamoto M, Sobue G (2012) Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas. J Neurol Neurosurg Psychiatry 83(2):152\u2013158","DOI":"10.1136\/jnnp-2011-301299"},{"key":"338_CR30","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1093\/humrep\/deg081","volume":"18","author":"JA Land","year":"2003","unstructured":"Land JA, Evers JL (2003) Risks and complications in assisted reproduction techniques: report of an ESHRE consensus meeting. Hum Reprod 18:455\u2013457","journal-title":"Hum Reprod"},{"key":"338_CR31","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1590\/1516-4446-2014-1617","volume":"38","author":"S Ledo","year":"2016","unstructured":"Ledo S, Leite A, Souto T, Dinis MA, Sequeiros J (2016) Mid- and long-term anxiety levels associated with presymptomatic testing of Huntington\u2019s disease, Machado-Joseph disease, and familial amyloid polyneuropathy. Rev Bras Psiquiatr 38:113\u2013120. https:\/\/doi.org\/10.1590\/1516-4446-2014-1617","journal-title":"Rev Bras Psiquiatr"},{"key":"338_CR32","doi-asserted-by":"publisher","first-page":"415","DOI":"10.9788\/TP2016.2-15","volume":"24","author":"S L\u00eado","year":"2016","unstructured":"L\u00eado S, Leite A, Souto T, Dinis MA, Sequeiros J (2016) Depression as the middle-and long-term impact for pre-symptomatic testing of late-onset neurodegenerative disorders trends in psychology. Temas Psicologia 24:415\u2013430. https:\/\/doi.org\/10.9788\/TP2016.2-15","journal-title":"Temas Psicologia"},{"key":"338_CR33","doi-asserted-by":"publisher","first-page":"1337","DOI":"10.2215\/cjn.08720811","volume":"7","author":"L Lobato","year":"2012","unstructured":"Lobato L, Rocha A (2012) Transthyretin amyloidosis and the kidney. Clin J Am Soc Nephrol 7:1337\u20131346. https:\/\/doi.org\/10.2215\/cjn.08720811","journal-title":"Clin J Am Soc Nephrol"},{"key":"338_CR34","unstructured":"Lopes A (2003) Depress\u00e3o em PL: Aspectos ligados \u00e0s doen\u00e7as gen\u00e9ticas de in\u00edcio tardio Revista Portuguesa de Psicossom\u00e1tica 5:139\u2013144"},{"issue":"1","key":"338_CR35","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/S0022-3999(00)00151-3","volume":"49","author":"LJ Luecken","year":"2000","unstructured":"Luecken LJ (2000) Attachment and loss experiences during childhood are associated with adult hostility, depression, and social support. J Psychosom Res 49(1):85\u201391","journal-title":"J Psychosom Res"},{"key":"338_CR36","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1136\/jnnp-2014-308107","volume":"86","author":"LF Maia","year":"2015","unstructured":"Maia LF et al (2015) CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings. J Neurol Neurosurg Psychiatry 86:159\u2013167. https:\/\/doi.org\/10.1136\/jnnp-2014-308107","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"338_CR37","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1001\/archgenpsychiatry.2011.2277","volume":"69","author":"KA McLaughlin","year":"2012","unstructured":"McLaughlin KA, Greif Green J, Gruber MJ, Sampson NA, Zaslavsky AM, Kessler RC (2012) Childhood adversities and first onset of psychiatric disorders in a national sample of US adolescents. Arch Gen Psychiatry 69:1151\u20131160. https:\/\/doi.org\/10.1001\/archgenpsychiatry.2011.2277","journal-title":"Arch Gen Psychiatry"},{"key":"338_CR38","doi-asserted-by":"publisher","first-page":"568","DOI":"10.1016\/j.psyneuen.2005.01.006","volume":"30","author":"G Meinlschmidt","year":"2005","unstructured":"Meinlschmidt G, Heim C (2005) Decreased cortisol awakening response after early loss experience. Psychoneuroendocrinology 30:568\u2013576. https:\/\/doi.org\/10.1016\/j.psyneuen.2005.01.006","journal-title":"Psychoneuroendocrinology"},{"key":"338_CR39","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1046\/j.1365-2796.2003.01262.x","volume":"255","author":"G Merlini","year":"2004","unstructured":"Merlini G, Westermark P (2004) The systemic amyloidoses: clearer understanding of the molecular mechanisms offers hope for more effective therapies. J Intern Med 255:159\u2013178","journal-title":"J Intern Med"},{"key":"338_CR40","doi-asserted-by":"publisher","first-page":"1012","DOI":"10.1016\/j.psyneuen.2003.09.005","volume":"29","author":"NA Nicolson","year":"2004","unstructured":"Nicolson NA (2004) Childhood parental loss and cortisol levels in adult men. Psychoneuroendocrinology 29:1012\u20131018. https:\/\/doi.org\/10.1016\/j.psyneuen.2003.09.005","journal-title":"Psychoneuroendocrinology"},{"key":"338_CR41","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1007\/s10897-009-9240-1","volume":"18","author":"M Paneque","year":"2009","unstructured":"Paneque M, Lemos C, Sousa A, Velazquez L, Fleming M, Sequeiros J (2009) Role of the disease in the psychological impact of pre-symptomatic testing for SCA2 and FAP ATTRV30M: experience with the disease, kinship and gender of the transmitting parent. J Genet Couns 18:483\u2013493. https:\/\/doi.org\/10.1007\/s10897-009-9240-1","journal-title":"J Genet Couns"},{"issue":"Suppl 1","key":"338_CR42","doi-asserted-by":"publisher","first-page":"S3","DOI":"10.1097\/wco.0000000000000288","volume":"29","author":"Y Parman","year":"2016","unstructured":"Parman Y, Adams D, Obici L, Galan L, Guergueltcheva V, Suhr OB, Coelho T (2016) Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP. Curr Opin Neurol 29(Suppl 1):S3\u2013s13. https:\/\/doi.org\/10.1097\/wco.0000000000000288","journal-title":"Curr Opin Neurol"},{"key":"338_CR43","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1111\/j.1399-0004.2006.00606.x","volume":"69","author":"L Rolim","year":"2006","unstructured":"Rolim L, Leite A, Ledo S, Paneque M, Sequeiros J, Fleming M (2006) Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I. Clin Genet 69:297\u2013305. https:\/\/doi.org\/10.1111\/j.1399-0004.2006.00606.x","journal-title":"Clin Genet"},{"key":"338_CR44","doi-asserted-by":"crossref","unstructured":"Santos D, Coelho T, Alves-Ferreira M, Sequeiros J, Mendon\u00e7a D, Alonso I, Lemos C, Sousa A (2016) Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M). Eur J Hum Genet 24(5):756\u201360","DOI":"10.1038\/ejhg.2015.180"},{"key":"338_CR45","first-page":"179","volume":"1","author":"MJ Saraiva","year":"1996","unstructured":"Saraiva MJ (1996) Molecular genetics of familial amyloidotic polyneuropathy. J Peripher Nerv Syst 1:179\u2013188","journal-title":"J Peripher Nerv Syst"},{"key":"338_CR46","doi-asserted-by":"crossref","first-page":"3219","DOI":"10.2174\/138161208786404155","volume":"14","author":"Y Sekijima","year":"2008","unstructured":"Sekijima Y, Kelly JW, Ikeda S (2008) Pathogenesis of and therapeutic strategies to ameliorate the transthyretin amyloidoses. Curr Pharm Des 14:3219\u20133230","journal-title":"Curr Pharm Des"},{"key":"338_CR47","doi-asserted-by":"crossref","unstructured":"Sequeiros J, Maciel P, Taborda F, L\u00eado S, Rocha JC, Lopes A, Reto F, Fortuna AM, Rousseau M, Fleming M, Coutinho P, Rouleau GA, Jorge CS (1998) Prenatal diagnosis of Machado-Joseph disease by direct mutation analysis: questions raised in dominant ataxias and other late-onset disorders. Prenat Diagn 18:611\u2013617","DOI":"10.1002\/(SICI)1097-0223(199806)18:6<611::AID-PD289>3.0.CO;2-Y"},{"key":"338_CR48","unstructured":"Sequeiros J, Pinto-Basto J, Coelho T, Rocha J, L\u00eado S, Leite \u00c2 (2006) Ten years of a programme for presymptomatic testing (PST) and prenatal diagnosis (PND) in late-onset neurological diseases in Portugal: Machado-Joseph disease (MJD), Huntington disease (HD) and familial amyloid neuropathy type IATTRV30M (FAP-I) Eur J Hum Genet 14:92"},{"key":"338_CR49","unstructured":"Sousa A (1995) A variabilidade fenot\u00edpica da polineuropatia amiloid\u00f3tica familiar: um estudo de gen\u00e9tica quantitativa em Portugal e na Su\u00e9cia. University of Porto"},{"key":"338_CR50","first-page":"74","volume":"6","author":"A Sousa","year":"2006","unstructured":"Sousa A (2006) Genetic epidemiology of familial amyloid polyneuropathy | Epidemiologia gen\u00e9tica da polineuropatia amiloid\u00f3tica familiar. Dermatol Sin 6:74\u201376","journal-title":"Dermatol Sin"},{"key":"338_CR51","unstructured":"Sousa A CT, Morgado R, Coutinho P (1990) Statistical analysis of factors which may influence the duration of familial amyloidotic polyneuropathy type I. Porto"},{"key":"338_CR52","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1159\/000154146","volume":"43","author":"A Sousa","year":"1993","unstructured":"Sousa A, Andersson R, Drugge U, Holmgren G, Sandgren O (1993) Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence. Hum Hered 43:288\u2013294","journal-title":"Hum Hered"},{"key":"338_CR53","doi-asserted-by":"crossref","unstructured":"Sousa A, Coelho T, Barros J, Sequeiros J (1995) Genetic epidemiology of familial amyloidotic polyneuropathy (FAP) type I in P\u00f3voa do Varzim\/Vila do Conde (North of Portugal) Am J Med Gen (Neurop Genetics) 60:512\u2013521","DOI":"10.1002\/ajmg.1320600606"},{"key":"338_CR54","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1159\/000106470","volume":"40","author":"B Steck","year":"2007","unstructured":"Steck B, Grether A, Amsler F, Dillier AS, Romer G, Kappos L, Burgin D (2007) Disease variables and depression affecting the process of coping in families with a somatically ill parent. Psychopathology 40:394\u2013404. https:\/\/doi.org\/10.1159\/000106470","journal-title":"Psychopathology"},{"key":"338_CR55","doi-asserted-by":"publisher","first-page":"516","DOI":"10.1016\/j.psychres.2011.10.024","volume":"198","author":"Y Stikkelbroek","year":"2012","unstructured":"Stikkelbroek Y, Prinzie P, de Graaf R, Ten Have M, Cuijpers P (2012) Parental death during childhood and psychopathology in adulthood. Psychiatry Res 198:516\u2013520. https:\/\/doi.org\/10.1016\/j.psychres.2011.10.024","journal-title":"Psychiatry Res"},{"key":"338_CR56","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1097\/00007890-199511150-00009","volume":"60","author":"OB Suhr","year":"1995","unstructured":"Suhr OB et al (1995) Liver transplantation in familial amyloidotic polyneuropathy. Follow-up of the first 20 Swedish patients. Transplantation 60:933\u2013938","journal-title":"Transplantation"},{"key":"338_CR57","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1001\/archpsyc.1988.01800350079012","volume":"45","author":"C Tennant","year":"1988","unstructured":"Tennant C (1988) Parental loss in childhood. Its effect in adult life. Arch Gen Psychiatry 45:1045\u20131050","journal-title":"Arch Gen Psychiatry"},{"key":"338_CR58","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1016\/j.brainresbull.2006.10.023","volume":"72","author":"A Tibben","year":"2007","unstructured":"Tibben A (2007) Predictive testing for Huntington\u2019s disease. Brain Res Bull 72:165\u2013171. https:\/\/doi.org\/10.1016\/j.brainresbull.2006.10.023","journal-title":"Brain Res Bull"},{"key":"338_CR59","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1037\/0278-6133.23.2.189","volume":"23","author":"R Timman","year":"2004","unstructured":"Timman R, Roos R, Maat-Kievit A, Tibben A (2004) Adverse effects of predictive testing for Huntington disease underestimated: long-term effects 7-10 years after the test. Health Psychol 23:189\u2013197. https:\/\/doi.org\/10.1037\/0278-6133.23.2.189","journal-title":"Health Psychol"},{"key":"338_CR60","doi-asserted-by":"publisher","first-page":"1147","DOI":"10.1016\/j.biopsych.2008.01.011","volume":"63","author":"AR Tyrka","year":"2008","unstructured":"Tyrka AR, Wier L, Price LH, Ross N, Anderson GM, Wilkinson CW, Carpenter LL (2008a) Childhood parental loss and adult hypothalamic-pituitary-adrenal function. Biol Psychiatry 63:1147\u20131154. https:\/\/doi.org\/10.1016\/j.biopsych.2008.01.011","journal-title":"Biol Psychiatry"},{"key":"338_CR61","doi-asserted-by":"crossref","first-page":"329","DOI":"10.2190\/PM.38.3.h","volume":"38","author":"AR Tyrka","year":"2008","unstructured":"Tyrka AR, Wier L, Price LH, Ross NS, Carpenter LL (2008b) Childhood parental loss and adult psychopathology: effects of loss characteristics and contextual factors. Int J Psychiatry Med 38:329\u2013344","journal-title":"Int J Psychiatry Med"},{"key":"338_CR62","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1186\/2047-9158-3-19","volume":"3","author":"M Ueda","year":"2014","unstructured":"Ueda M, Ando Y (2014) Recent advances in transthyretin amyloidosis therapy. Transl Neurodegener 3:19. https:\/\/doi.org\/10.1186\/2047-9158-3-19","journal-title":"Transl Neurodegener"},{"key":"338_CR63","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1176\/appi.psy.48.5.400","volume":"48","author":"M Vamos","year":"2007","unstructured":"Vamos M, Hambridge J, Edwards M, Conaghan J (2007) The impact of Huntington\u2019s disease on family life. Psychosomatics 48:400\u2013404. https:\/\/doi.org\/10.1176\/appi.psy.48.5.400","journal-title":"Psychosomatics"},{"key":"338_CR64","doi-asserted-by":"publisher","first-page":"862","DOI":"10.1007\/s10897-015-9822-z","volume":"24","author":"LB Meer van der","year":"2015","unstructured":"van der Meer LB, van Duijn E, Giltay EJ, Tibben A (2015) Do attachment style and emotion regulation strategies indicate distress in predictive testing? J Genet Couns 24:862\u2013871. https:\/\/doi.org\/10.1007\/s10897-015-9822-z","journal-title":"J Genet Couns"},{"key":"338_CR65","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1017\/s095457940900011x","volume":"21","author":"K Zajac","year":"2009","unstructured":"Zajac K, Kobak R (2009) Caregiver unresolved loss and abuse and child behavior problems: intergenerational effects in a high-risk sample. Dev Psychopathol 21:173\u2013187. https:\/\/doi.org\/10.1017\/s095457940900011x","journal-title":"Dev Psychopathol"}],"container-title":["Journal of Community Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12687-017-0338-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-017-0338-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-017-0338-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,4]],"date-time":"2019-10-04T17:32:27Z","timestamp":1570210347000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12687-017-0338-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10,19]]},"references-count":65,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["338"],"URL":"https:\/\/doi.org\/10.1007\/s12687-017-0338-0","relation":{},"ISSN":["1868-310X","1868-6001"],"issn-type":[{"type":"print","value":"1868-310X"},{"type":"electronic","value":"1868-6001"}],"subject":[],"published":{"date-parts":[[2017,10,19]]}}}