@article {6441,
	title = {Discredited legacy: Stigma and familial amyloid polyneuropathy in Northwestern Portugal},
	journal = {Social Science and Medicine},
	volume = {182},
	year = {2017},
	note = {Export Date: 19 March 2018},
	month = {2017},
	pages = {73 - 80},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85018469092\&doi=10.1016\%2fj.socscimed.2017.04.026\&partnerID=40\&md5=e3f604e9711b483288eb64da6ab2be57},
	author = {Mendes, A. and Sousa, L. and Sequeiros, J. and Clarke, A.}
}
@article {6505,
	title = {Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset},
	journal = {Annals of Clinical and Translational Neurology},
	volume = {4},
	year = {2017},
	note = {Cited By :2Export Date: 19 March 2018},
	month = {2017},
	pages = {98 - 105},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85026195015\&doi=10.1002\%2facn3.380\&partnerID=40\&md5=88410e23b9aa42087de01ab56e0522b4},
	author = {Santos, D. and Coelho, T. and Alves-Ferreira, M. and Sequeiros, J. and Mendon{\c c}a, D. and Alonso, I. and Lemos, C. and Sousa, A.}
}
@article {6503,
	title = {Illness representations, knowledge and motivation to perform presymptomatic testing for late-onset genetic diseases},
	journal = {Psychology, Health and Medicine},
	volume = {22},
	year = {2017},
	note = {Export Date: 19 March 2018},
	month = {2017},
	pages = {244 - 249},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84961208126\&doi=10.1080\%2f13548506.2016.1159704\&partnerID=40\&md5=d6fcee959e0e5afef3e5f28b0c8ea9a3},
	author = {Leite, {\^A}. and Dinis, M.A.P. and Sequeiros, J. and Pa{\'u}l, C.}
}
@article {6368,
	title = {Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias},
	journal = {European Journal of Human Genetics},
	volume = {25},
	year = {2017},
	note = {Cited By :2Export Date: 19 March 2018},
	month = {2017},
	pages = {1217 - 1228},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85031283104\&doi=10.1038\%2fejhg.2017.124\&partnerID=40\&md5=2298efd24f5ae5c8b7667b041a4360d6},
	author = {Morais, S. and Raymond, L. and Mairey, M. and Coutinho, P. and Brand{\~a}o, E. and Ribeiro, P. and Loureiro, J.L. and Sequeiros, J. and Brice, A. and Alonso, I. and Stevanin, G.}
}
@article {6565,
	title = {Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases},
	journal = {Interdisciplinaria},
	volume = {34},
	year = {2017},
	note = {Export Date: 19 March 2018},
	month = {2017},
	pages = {125 - 140},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85030682009\&partnerID=40\&md5=a1f160dcacac20096b7178fdefa9efba},
	author = {Leite, {\^A}. and Dinis, M.A.P. and Sequeiros, J. and Pa{\'u}l, C.}
}
@article {6381,
	title = {Paula coutinho{\textquoteright}s outstanding contribution to the definition of Machado-Joseph disease},
	journal = {Arquivos de Neuro-Psiquiatria},
	volume = {75},
	year = {2017},
	note = {Export Date: 19 March 2018},
	month = {2017},
	pages = {748 - 750},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85036568429\&doi=10.1590\%2f0004-282x20170127\&partnerID=40\&md5=6290efdbfee569dfddddbb8cac2043ce},
	author = {Garcia, B.C.M. and Germiniani, F.M.B. and Marques, P. and Sequeiros, J. and Teive, H.A.G.}
}
@article {6421,
	title = {A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia},
	journal = {American Journal of Human Genetics},
	volume = {101},
	year = {2017},
	note = {Cited By :2Export Date: 19 March 2018},
	month = {2017},
	pages = {87 - 103},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85021415706\&doi=10.1016\%2fj.ajhg.2017.06.007\&partnerID=40\&md5=84985cdc99a86734726baafd72a2cdc3},
	author = {Seixas, A.I. and Loureiro, J.R. and Costa, C. and Ord{\'o}{\~n}ez-Ugalde, A. and Marcelino, H. and Oliveira, C.L. and Loureiro, J.L. and Dhingra, A. and Brand{\~a}o, E. and Cruz, V.T. and Tim{\'o}teo, A. and Quint{\'a}ns, B. and Rouleau, G.A. and Rizzu, P. and Carracedo, A. and Bessa, J. and Heutink, P. and Sequeiros, J. and Sobrido, M.J. and Coutinho, P. and Silveira, I.}
}
@article {6534,
	title = {Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact},
	journal = {Psicothema},
	volume = {29},
	year = {2017},
	note = {Export Date: 19 March 2018},
	month = {2017},
	pages = {446 - 452},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85032024591\&doi=10.7334\%2fpsicothema2016.298\&partnerID=40\&md5=306202bfee8c72be6226d0bba52706ad},
	author = {L{\^e}do, S. and Leite, {\^A}. and Souto, T. and Dinis, M.A.P. and Sequeiros, J.}
}
@book {6552,
	title = {Rare neurodegenerative diseases: Clinical and genetic update},
	series = {Advances in Experimental Medicine and Biology},
	volume = {1031},
	year = {2017},
	note = {Export Date: 19 March 2018},
	month = {2017},
	pages = {443 - 496},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85037621160\&doi=10.1007\%2f978-3-319-67144-4_25\&partnerID=40\&md5=9b095ebb6ea8c1a3b3b40f970878a058},
	author = {Matilla-Duenas, A. and Corral-Juan, M. and Rodr{\'\i}guez-Palmero Seuma, A. and Vilas, D. and Ispierto, L. and Morais, S. and Sequeiros, J. and Alonso, I. and Volpini, V. and Serrano-Munuera, C. and Pintos-Morell, G. and Alvarez, R. and S{\'a}nchez, I.}
}
@article {6541,
	title = {Risk perception in subjects at-risk for Familial Amyloidotic Polyneuropathy},
	journal = {Universitas Psychologica},
	volume = {16},
	year = {2017},
	note = {Export Date: 19 March 2018},
	month = {2017},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85033778942\&doi=10.11144\%2fJaveriana.upsy16-3.rpsf\&partnerID=40\&md5=16bc6d6162e6ecbb54f838a3284691dd},
	author = {Leitea, {\^A}. and Dinis, M.A.P. and Sequeiros, J. and Pa{\'u}l, C.}
}
@article {6431,
	title = {Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil},
	journal = {European Journal of Neurology},
	volume = {24},
	year = {2017},
	note = {Cited By :1Export Date: 19 March 2018},
	month = {2017},
	pages = {892 - e36},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85019672148\&doi=10.1111\%2fene.13281\&partnerID=40\&md5=73fa63f802fb2d0e9e9a533fa3674c4f},
	author = {Gheno, T.C. and Furtado, G.V. and Saute, J.A.M. and Donis, K.C. and Fontanari, A.M.V. and Emmel, V.E. and Pedroso, J.L. and Barsottini, O. and Godeiro-Junior, C. and van der Linden, H. and Ternes Pereira, E. and Cintra, V.P. and Marques, W. and de Castilhos, R.M. and Alonso, I. and Sequeiros, J. and Cornejo-Olivas, M. and Mazzetti, P. and Leotti, V.B. and Jardim, L.B. and Saraiva-Pereira, M.L.}
}
@booklet {6450,
	title = {A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal},
	howpublished = {Molecular Neurobiology},
	year = {2017},
	note = {Export Date: 19 March 2018Article in Press},
	month = {2017},
	pages = {1 - 8},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85019539928\&doi=10.1007\%2fs12035-017-0593-4\&partnerID=40\&md5=bd96bc3385ca81c205b0d6f624ed662e},
	author = {Alves-Ferreira, M. and Coelho, T. and Santos, D. and Sequeiros, J. and Alonso, I. and Sousa, A. and Lemos, C.}
}
@article {6469,
	title = {Ubiquitin-related network underlain by (CAG)<inf>n</inf>loci modulate age at onset in Machado-Joseph disease},
	journal = {Brain},
	volume = {140},
	year = {2017},
	note = {Cited By :2Export Date: 19 March 2018},
	month = {2017},
	pages = {e25},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85028555674\&doi=10.1093\%2fbrain\%2fawx028\&partnerID=40\&md5=de76a8ed7aecec93869b60f4afbb901c},
	author = {Chen, Z. and Wang, C. and Zheng, C. and Long, Z. and Cao, L. and Li, X. and Shang, H. and Yin, X. and Zhang, B. and Liu, J. and Ding, D. and Peng, Y. and Peng, H. and Ye, W. and Qiu, R. and Pan, Q. and Xia, K. and Chen, S. and Sequeiros, J. and Ashizawa, T. and Tang, B. and Jiang, H.}
}
@article {6654,
	title = {(CAG)<inf>n</inf>loci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China},
	journal = {Brain},
	volume = {139},
	year = {2016},
	note = {Cited By :5Export Date: 19 March 2018},
	month = {2016},
	pages = {e41},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84982902988\&doi=10.1093\%2fbrain\%2faww087\&partnerID=40\&md5=ece018515bc9c16c274a0e407e242f2e},
	author = {Chen, Z. and Zheng, C. and Long, Z. and Cao, L. and Li, X. and Shang, H. and Yin, X. and Zhang, B. and Liu, J. and Ding, D. and Peng, Y. and Wang, C. and Peng, H. and Ye, W. and Qiu, R. and Pan, Q. and Xia, K. and Chen, S. and Sequeiros, J. and Ashizawa, T. and Klockgether, T. and Tang, B. and Jiang, H.}
}
@article {6689,
	title = {Depression as the Middle-and Long-Term Impact for Pre-Symptomatic Testing of Late-Onset Neurodegenerative Disorders},
	journal = {Temas em Psicologia},
	volume = {24},
	year = {2016},
	note = {Export Date: 19 March 2018},
	month = {2016},
	pages = {579 - 594},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84983735423\&doi=10.9788\%2fTP2016.2-11\&partnerID=40\&md5=c83d029ab84029076c6c3f6bb811331e},
	author = {L{\^e}do, S. and Leite, {\^A}. and Souto, T. and Dinis, M.A. and Sequeiros, J.}
}
@article {6735,
	title = {How communication of genetic information within the family is addressed in genetic counselling: A systematic review of research evidence},
	journal = {European Journal of Human Genetics},
	volume = {24},
	year = {2016},
	note = {Cited By :7Export Date: 19 March 2018},
	month = {2016},
	pages = {315 - 325},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84958109101\&doi=10.1038\%2fejhg.2015.174\&partnerID=40\&md5=5ae4ef88e501c46879ac3fbfa254bcf6},
	author = {Mendes, A. and Paneque, M. and Sousa, L. and Clarke, A. and Sequeiros, J.}
}
@article {6742,
	title = {Large-scale functional RNAi Screen in C. elegans identifies TGF-β and notch signaling pathways as modifiers of CACNAIA},
	journal = {ASN Neuro},
	volume = {8},
	year = {2016},
	note = {Cited By :3Export Date: 19 March 2018},
	month = {2016},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84961625995\&doi=10.1177\%2f1759091416637025\&partnerID=40\&md5=a7895635db89c0794f5dc80f94128bce},
	author = {da Concei{\c c}{\~a}o Pereira, M. and Morais, S. and Sequeiros, J. and Alonso, I.}
}
@article {6719,
	title = {Mid-and long-term anxiety levels associated with presymptomatic testing of Huntington{\textquoteright}s disease, Machado-Joseph disease, and familial amyloid polyneuropathy},
	journal = {Revista Brasileira de Psiquiatria},
	volume = {38},
	year = {2016},
	note = {Cited By :2Export Date: 19 March 2018},
	month = {2016},
	pages = {113 - 120},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84974855840\&doi=10.1590\%2f1516-4446-2014-1617\&partnerID=40\&md5=b47b07f4fc8e4667274708696b36c709},
	author = {L{\^e}do, S. and Leite, {\^A}. and Souto, T. and Dinis, M.A. and Sequeiros, J.}
}
@article {6757,
	title = {Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations},
	journal = {Journal of Genetic Counseling},
	volume = {25},
	year = {2016},
	note = {Cited By :2Export Date: 19 March 2018},
	month = {2016},
	pages = {79 - 89},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84955747002\&doi=10.1007\%2fs10897-015-9846-4\&partnerID=40\&md5=8bb31de3f5114a31a876592d0de64238},
	author = {Leite, {\^A}. and Dinis, M.A.P. and Sequeiros, J. and Pa{\'u}l, C.}
}
@article {6701,
	title = {Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)},
	journal = {European Journal of Human Genetics},
	volume = {24},
	year = {2016},
	note = {Cited By :9Export Date: 19 March 2018},
	month = {2016},
	pages = {756 - 760},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84939553337\&doi=10.1038\%2fejhg.2015.180\&partnerID=40\&md5=009df72ca028815121e7b33f67ce7c11},
	author = {Santos, D. and Coelho, T. and Alves-Ferreira, M. and Sequeiros, J. and Mendon{\c c}a, D. and Alonso, I. and Lemos, C. and Sousa, A.}
}
@article {5448,
	title = {Chromosome substitution strain assessment of a Huntington{\textquoteright}s disease modifier locus},
	journal = {Mammalian Genome},
	volume = {26},
	year = {2015},
	note = {Cited By :2Export Date: 12 January 2016},
	month = {2015},
	pages = {119 - 130},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84940002551\&partnerID=40\&md5=20d3879276019934f325467f96a8c7a2},
	author = {Ramos, E.M. and Kovalenko, M. and Guide, J.R. and St. Claire, J. and Gillis, T. and Mysore, J. S. and Sequeiros, J. and Wheeler, V.C. and Alonso, I. and MacDonald, M. E.}
}
@article {5394,
	title = {Genetic Counseling in Portugal: Education, Practice and a Developing Profession},
	journal = {Journal of Genetic Counseling},
	volume = {24},
	year = {2015},
	note = {Export Date: 12 January 2016},
	month = {2015},
	pages = {548 - 552},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84938200744\&partnerID=40\&md5=bc1a42775592918509d3c13351e9dea8},
	author = {Paneque, M. and Mendes, {\'A}. and Saraiva, J. and Sequeiros, J.}
}
@article {5415,
	title = {Genetics and ethics in Latin America},
	journal = {Journal of Community Genetics},
	volume = {6},
	year = {2015},
	note = {Export Date: 12 January 2016},
	month = {2015},
	pages = {185 - 187},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84938741575\&partnerID=40\&md5=5ddef2a213d05b50fa4edd32c2bef2d7},
	author = {Sequeiros, J. and Gibbon, S. and Clarke, A.}
}
@article {5497,
	title = {Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington{\textquoteright}s disease},
	journal = {American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics},
	volume = {168},
	year = {2015},
	note = {Export Date: 12 January 2016},
	month = {2015},
	pages = {135 - 143},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84923108709\&partnerID=40\&md5=48fc86498a5c591ca8dcf19ff86b4c4d},
	author = {Ramos, E.M. and Gillis, T. and Mysore, J. S. and Lee, J. -M. and G{\"o}gele, M. and D{\textquoteright}Elia, Y. and Pichler, I. and Sequeiros, J. and Pramstaller, P.P. and Gusella, J. F. and MacDonald, M. E. and Alonso, I.}
}
@booklet {5397,
	title = {How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence},
	howpublished = {European Journal of Human Genetics},
	year = {2015},
	note = {Export Date: 12 January 2016Article in Press},
	month = {2015},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84939233574\&partnerID=40\&md5=7774c6459ba983395b91c3335456ed7d},
	author = {Mendes, . and Paneque, M. and Sousa, L. and Clarke, A. and Sequeiros, J.}
}
@article {5509,
	title = {Machado-Joseph disease in a Nigerian family: Mutational origin and review of the literature},
	journal = {European Journal of Human Genetics},
	volume = {23},
	year = {2015},
	note = {Export Date: 12 January 2016},
	month = {2015},
	pages = {271 - 273},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84921354303\&partnerID=40\&md5=876b8a2e220237ccc298e4889dd52e87},
	author = {Ogun, S.A. and Martins, S. and Adebayo, P.B. and Dawodu, C.O. and Sequeiros, J. and Finkel, M.F.}
}
@article {5512,
	title = {Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4},
	journal = {American Journal of Human Genetics},
	volume = {96},
	year = {2015},
	note = {Export Date: 12 January 2016},
	month = {2015},
	pages = {474 - 479},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84924246336\&partnerID=40\&md5=ced002f34161723078050509e0d874d9},
	author = {Bras, J. and Alonso, I. and Barbot, C. and Costa, M.M. and Darwent, L. and Orme, T. and Sequeiros, J. and Hardy, J. and Coutinho, P. and Guerreiro, R.}
}
@booklet {5431,
	title = {Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations},
	howpublished = {Journal of Genetic Counseling},
	year = {2015},
	note = {Export Date: 12 January 2016Article in Press},
	month = {2015},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84929688967\&partnerID=40\&md5=f7f52e6970b4ea4ed5b291e2ea7446db},
	author = {Leite, {\^A}. and Dinis, M.A.P. and Sequeiros, J. and Pa{\'u}l, C.}
}
@booklet {5396,
	title = {Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)},
	howpublished = {European Journal of Human Genetics},
	year = {2015},
	note = {Export Date: 12 January 2016Article in Press},
	month = {2015},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84939553337\&partnerID=40\&md5=3169865e6d7fcbdb14b5f766c8c54dfe},
	author = {Santos, D. and Coelho, T. and Alves-Ferreira, M. and Sequeiros, J. and Mendon{\c c}a, D. and Alonso, I. and Lemos, C. and Sousa, A.}
}
@article {4744,
	title = {Autosomal dominant spastic paraplegias: A review of 89 families resulting from a Portuguese survey},
	journal = {JAMA Neurology},
	volume = {70},
	year = {2013},
	note = {Cited By (since 1996):1Export Date: 8 April 2014Source: Scopus},
	month = {2013},
	pages = {481 - 487},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84876133160\&partnerID=40\&md5=f118e6988d2a0ce5c8565bd43234fba0},
	author = {Loureiro, J.L. and Brand{\~a}o, E. and Ruano, L. and Brand{\~a}o, A.F. and Lopes, A. M. and Thieleke-Matos, C. and Miller-Fleming, L. and Cruz, V.T. and Barbosa, M. and Silveira, I. and Stevanin, G. and Pinto-Basto, J. and Sequeiros, J. and Alonso, I. and Coutinho, P.}
}
@article {4721,
	title = {Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington{\textquoteright}s disease motor onset},
	journal = {Neurogenetics},
	volume = {14},
	year = {2013},
	note = {Cited By (since 1996):2Export Date: 8 April 2014Source: Scopus},
	month = {2013},
	pages = {173 - 179},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84888063832\&partnerID=40\&md5=10b47c0fd5922805d754454404213459},
	author = {Ramos, E.M. and Latourelle, J.C. and Gillis, T. and Mysore, J. S. and Squitieri, F. and Di Pardo, A. and Di Donato, S. and Gellera, C. and Hayden, M. R. and Morrison, P. J. and Nance, M. and Ross, C.A. and Margolis, R.L. and Gomez-Tortosa, E. and Ayuso, C. and Suchowersky, O. and Trent, R. J. and McCusker, E. and Novelletto, A. and Frontali, M. and Jones, R. and Ashizawa, T. and Frank, S. and Saint-Hilaire, M. -H. and Hersch, S. M. and Rosas, H. D. and Lucente, D. and Harrison, M. B. and Zanko, A. and Abramson, R. K. and Marder, K. and Gusella, J. F. and Lee, J. -M. and Alonso, I. and Sequeiros, J. and Myers, R. H. and MacDonald, M. E.}
}
@article {2790,
	title = {Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large portuguese family},
	journal = {JAMA Neurology},
	volume = {70},
	year = {2013},
	note = {Export Date: 18 March 2013Source: Scopus},
	month = {2013///},
	pages = {235 - 240},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84874027219\&partnerID=40\&md5=5a64eead07d106ec656c95b088883ef3},
	author = {Barros, J. and Dam{\'a}sio, J. and Tuna, A. and Alves, I. and Silveira, I. and Pereira-Monteiro, J. and Sequeiros, J. and Alonso, I. and Sousa, A. and Coutinho, P.}
}
@booklet {4634,
	title = {Huntington disease and Huntington disease-like in a case series from Brazil},
	howpublished = {Clinical Genetics},
	year = {2013},
	note = {Export Date: 8 April 2014Source: ScopusArticle in Press},
	month = {2013},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84885552918\&partnerID=40\&md5=eff40bda7191e4feb2df3fc8654c9ca5},
	author = {Castilhos, R. and Souza, A. and Furtado, G. and Gheno, T. and Silva, A. and Vargas, F. and Lima, M.-A. and Barsottini, O. and Pedroso, J. and Godeiro, C. and Salarini, D. and Pereira, E. and Lin, K. and Toralles, M.-B. and Saute, J. and Rieder, C. and Quintas, M. and Sequeiros, J. and Alonso, I. and Saraiva-Pereira, M. and Jardim, L.}
}
@article {4658,
	title = {Interaction between γ-Aminobutyric Acid A Receptor Genes: New Evidence in Migraine Susceptibility},
	journal = {PLoS ONE},
	volume = {8},
	year = {2013},
	note = {Export Date: 8 April 2014Source: ScopusArt. No.: e74087},
	month = {2013},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84883511876\&partnerID=40\&md5=184db90d5eef8fc3221a32fe1eeb3554},
	author = {Quintas, M. and Neto, J.L. and Pereira-Monteiro, J. and Barros, J. and Sequeiros, J. and Sousa, A. and Alonso, I. and Lemos, C.}
}
@article {4678,
	title = {Non-syndromic sensorineural prelingual deafness: The importance of genetic counseling in demystifying parents{\textquoteright} beliefs about the cause of their children{\textquoteright}s deafness},
	journal = {Journal of Genetic Counseling},
	volume = {22},
	year = {2013},
	note = {Export Date: 8 April 2014Source: Scopus},
	month = {2013},
	pages = {448 - 454},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84879923959\&partnerID=40\&md5=ff1dd63fddf1f96538a36c65f59b40dc},
	author = {Rodrigues, F. and Paneque, M. and Reis, C. and Ven{\^a}ncio, M. and Sequeiros, J. and Saraiva, J.}
}
@booklet {4621,
	title = {The Prevalence of Familial Hemiplegic Migraine With Cerebellar Ataxia and Spinocerebellar Ataxia Type 6 in Portugal},
	howpublished = {Headache},
	year = {2013},
	note = {Export Date: 8 April 2014Source: ScopusArticle in Press},
	month = {2013},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84886743970\&partnerID=40\&md5=dfc1f06cc2e9ced02dc83f97f6703e26},
	author = {Barros, J. and Ruano, L. and Domingos, J. and Tuna, A. and Dam{\'a}sio, J. and Alonso, I. and Silveira, I. and Sequeiros, J. and Coutinho, P.}
}
@booklet {2802,
	title = {What Counts as Effective Genetic Counselling for Presymptomatic Testing in Late-Onset Disorders? A Study of the Consultand{\textquoteright}s Perspective},
	howpublished = {Journal of Genetic Counseling},
	year = {2013},
	note = {Export Date: 18 March 2013Source: ScopusArticle in Press},
	month = {2013///},
	pages = {1 - 11},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84871719110\&partnerID=40\&md5=ba40862171429a6da9b6f2e60f1f6086},
	author = {Guimar{\~a}es, L. and Sequeiros, J. and Skirton, H. and Paneque, M.}
}
@article {3007,
	title = {Alu elements mediate large SPG11 gene rearrangements: Further spatacsin mutations},
	journal = {Genetics in Medicine},
	volume = {14},
	year = {2012},
	note = {Export Date: 18 March 2013Source: Scopus},
	month = {2012///},
	pages = {143 - 151},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84855558170\&partnerID=40\&md5=cebfb723707752898768ab723a34f364},
	author = {Concei{\c c}o Pereira, M. and Loureiro, J.L. and Pinto-Basto, J. and Brando, E. and Margarida Lopes, A. and Neves, G. and Dias, P. and Geraldes, R. and Martins, I.P. and Cruz, V.T. and Kamsteeg, E.-J. and Brunner, H.G. and Coutinho, P. and Sequeiros, J. and Alonso, I.}
}
@article {2917,
	title = {Ataxia rating scales-psychometric profiles, natural history and their application in clinical trials},
	journal = {Cerebellum},
	volume = {11},
	year = {2012},
	note = {Export Date: 18 March 2013Source: Scopus},
	month = {2012///},
	pages = {488 - 504},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84864683551\&partnerID=40\&md5=7e604dd23eaecb6e636930bb683b5f61},
	author = {Saute, J.A.M. and Donis, K.C. and Serrano-Munuera, C. and Genis, D. and Ramirez, L. T. and Mazzetti, P. and P{\'e}rez, L. V. and Latorre, P. and Sequeiros, J. and Matilla-Duenas, A. and Jardim, L.B.}
}
@article {2976,
	title = {CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion},
	journal = {Neurology},
	volume = {78},
	year = {2012},
	note = {Cited By (since 1996): 12Export Date: 18 March 2013Source: Scopus},
	month = {2012///},
	pages = {690 - 695},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84858074593\&partnerID=40\&md5=e2e076dc1b33ef446094982342633861},
	author = {Lee, J. -M. and Ramos, E.M. and Lee, J. -H. and Gillis, T. and Mysore, J. S. and Hayden, M. R. and Warby, S. C. and Morrison, P. and Nance, M. and Ross, C.A. and Margolis, R.L. and Squitieri, F. and Orobello, S. and Di Donato, S. and Gomez-Tortosa, E. and Ayuso, C. and Suchowersky, O. and Trent, R. J. A. and McCusker, E. and Novelletto, A. and Frontali, M. and Jones, R. and Ashizawa, T. and Frank, S. and Saint-Hilaire, M. H. and Hersch, S. M. and Rosas, H. D. and Lucente, D. and Harrison, M. B. and Zanko, A. and Abramson, R. K. and Marder, K. and Sequeiros, J. and Paulsen, J. S. and Landwehrmeyer, G. B. and Myers, R. H. and MacDonald, M. E. and Gusella, J. F.}
}
@article {2908,
	title = {The challenges of incorporating genetic testing in the Unified National Health System in Brazil},
	journal = {Genetic Testing and Molecular Biomarkers},
	volume = {16},
	year = {2012},
	note = {Export Date: 18 March 2013Source: Scopus},
	month = {2012///},
	pages = {651 - 655},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84863930278\&partnerID=40\&md5=f64a7531c7d8fb6c07c25949b5bdb337},
	author = {Melo, D. G. and Sequeiros, J.}
}
@article {2974,
	title = {Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region},
	journal = {American Journal of Human Genetics},
	volume = {90},
	year = {2012},
	note = {Cited By (since 1996): 1Export Date: 18 March 2013Source: Scopus},
	month = {2012///},
	pages = {434 - 444},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84862831145\&partnerID=40\&md5=78917e3524aa125b61a52b87c44f68f1},
	author = {Lee, J. -M. and Gillis, T. and Mysore, J. S. and Ramos, E.M. and Myers, R. H. and Hayden, M. R. and Morrison, P. J. and Nance, M. and Ross, C.A. and Margolis, R.L. and Squitieri, F. and Griguoli, A. and Di Donato, S. and Gomez-Tortosa, E. and Ayuso, C. and Suchowersky, O. and Trent, R. J. and McCusker, E. and Novelletto, A. and Frontali, M. and Jones, R. and Ashizawa, T. and Frank, S. and Saint-Hilaire, M. -H. and Hersch, S. M. and Rosas, H. D. and Lucente, D. and Harrison, M. B. and Zanko, A. and Abramson, R. K. and Marder, K. and Sequeiros, J. and MacDonald, M. E. and Gusella, J. F.}
}
@article {2941,
	title = {{\textquoteright}Costa da Morte{\textquoteright} ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization},
	journal = {Brain},
	volume = {135},
	year = {2012},
	note = {Cited By (since 1996): 2Export Date: 18 March 2013Source: Scopus},
	month = {2012///},
	pages = {1423 - 1435},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84860608331\&partnerID=40\&md5=69fbec9a4cf46680a5fc7a003f7a82f9},
	author = {Garc{\'\i}a-Murias, M. and Quint{\'a}ns, B. and Arias, M. and Seixas, A.I. and Cacheiro, P. and Tarr{\'\i}o, R. and Pardo, J. and Mill{\'a}n, M. J. and Arias-Rivas, S. and Blanco-Arias, P. and Dapena, D. and Moreira, R. and Rodr{\'\i}guez-Trelles, F. and Sequeiros, J. and Carracedo, A. and Silveira, I. and Sobrido, M. J.}
}
@article {2957,
	title = {Definitions of genetic testing in European legal documents},
	journal = {Journal of Community Genetics},
	volume = {3},
	year = {2012},
	note = {Cited By (since 1996): 3Export Date: 18 March 2013Source: Scopus},
	month = {2012///},
	pages = {125 - 141},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84863103097\&partnerID=40\&md5=ad84653589ee64f43c1f2eaa1a21f380},
	author = {Varga, O. and Soini, S. and K{\"a}{\"a}ri{\"a}inen, H. and Cassiman, J.-J. and Nippert, I. and Rogowski, W. and Nys, H. and Kristoffersson, U. and Schmidtke, J. and Sequeiros, J.}
}
@article {2960,
	title = {Intergenerational instability in Huntington disease: Extreme repeat changes among 134 transmissions},
	journal = {Movement Disorders},
	volume = {27},
	year = {2012},
	note = {Cited By (since 1996): 1Export Date: 18 March 2013Source: Scopus},
	month = {2012///},
	pages = {583 - 585},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84859436267\&partnerID=40\&md5=46d46683e6e658d82ca3bca14c1e929d},
	author = {Ramos, E.M. and Cerqueira, J. and Lemos, C. and Pinto-Basto, J. and Alonso, I. and Sequeiros, J.}
}
@article {2865,
	title = {Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis},
	journal = {Rheumatology International},
	volume = {32},
	year = {2012},
	note = {Export Date: 18 March 2013Source: Scopus},
	month = {2012///},
	pages = {2745 - 2751},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84866411385\&partnerID=40\&md5=c985d158fe2ce73a41adfc0eecd4b607},
	author = {Couto, A.R. and Zhang, Y. and Timms, A. and Bruges-Armas, J. and Sequeiros, J. and Brown, M.A.}
}
@article {3016,
	title = {Quality assessment of genetic counseling process in the context of presymptomatic testing for late-onset disorders: A thematic analysis of three review articles},
	journal = {Genetic Testing and Molecular Biomarkers},
	volume = {16},
	year = {2012},
	note = {Cited By (since 1996): 1Export Date: 18 March 2013Source: Scopus},
	month = {2012///},
	pages = {36 - 45},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84856269820\&partnerID=40\&md5=2c1b4a0e4a707cead78462134ac5bdeb},
	author = {Paneque, M. and Sequeiros, J. and Skirton, H.}
}
@article {2816,
	title = {Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3)},
	journal = {Cerebellum},
	volume = {11},
	year = {2012},
	note = {Export Date: 18 March 2013Source: Scopus},
	month = {2012///},
	pages = {1045 - 1050},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84870454416\&partnerID=40\&md5=98c726270b929335be073366fd3cd394},
	author = {Bettencourt, C. and Raposo, M. and Kazachkova, N. and Santos, C. and Kay, T. and Vasconcelos, J. and MacIel, P. and Donis, K.C. and Saraiva-Pereira, M.L. and Jardim, L.B. and Sequeiros, J. and Bruges-Armas, J. and Lima, M.}
}
@article {2867,
	title = {Spinocerebellar ataxias: An example of the challenges associated with genetic databases for dynamic mutations},
	journal = {Human Mutation},
	volume = {33},
	year = {2012},
	note = {Cited By (since 1996): 1Export Date: 18 March 2013Source: Scopus},
	month = {2012///},
	pages = {1359 - 1365},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84865164378\&partnerID=40\&md5=6d61f6fb21a50b4ad7bbe7ee59978f65},
	author = {Martindale, J. E. and Seneca, S. and Wieczorek, S. and Sequeiros, J.}
}
@article {2878,
	title = {TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington{\textquoteright}s disease},
	journal = {Biochemical and Biophysical Research Communications},
	volume = {424},
	year = {2012},
	note = {Export Date: 18 March 2013Source: Scopus},
	month = {2012///},
	pages = {404 - 408},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84864757021\&partnerID=40\&md5=472b3f1e56a13963b3f6b7e441a54d83},
	author = {Lee, J. -H. and Lee, J. -M. and Ramos, E.M. and Gillis, T. and Mysore, J. S. and Kishikawa, S. and Hadzi, T. and Hendricks, A. E. and Hayden, M. R. and Morrison, P. J. and Nance, M. and Ross, C.A. and Margolis, R.L. and Squitieri, F. and Gellera, C. and Gomez-Tortosa, E. and Ayuso, C. and Suchowersky, O. and Trent, R. J. and McCusker, E. and Novelletto, A. and Frontali, M. and Jones, R. and Ashizawa, T. and Frank, S. and Saint-Hilaire, M. -H. and Hersch, S. M. and Rosas, H. D. and Lucente, D. and Harrison, M. B. and Zanko, A. and Abramson, R. K. and Marder, K. and Sequeiros, J. and Bernhard Landwehrmeyer, G. and Shoulson, I. and Myers, R. H. and MacDonald, M. E. and Gusella, J. F.}
}
@article {2968,
	title = {The wide variation of definitions of genetic testing in international recommendations, guidelines and reports},
	journal = {Journal of Community Genetics},
	volume = {3},
	year = {2012},
	note = {Cited By (since 1996): 1Export Date: 18 March 2013Source: Scopus},
	month = {2012///},
	pages = {113 - 124},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84863106341\&partnerID=40\&md5=41325a555b8dd8d8a5ee9d394e0a383d},
	author = {Sequeiros, J. and Paneque, M. and Guimar{\~a}es, B. and Rantanen, E. and Javaher, P. and Nippert, I. and Schmidtke, J. and K{\"a}{\"a}ri{\"a}ainen, H. and Kristoffersson, U. and Cassiman, J.-J.}
}
@article {3030,
	title = {The APOE ε 2 allele increases the risk of earlier age at onset in Machado-Joseph disease},
	journal = {Archives of Neurology},
	volume = {68},
	year = {2011},
	note = {Cited By (since 1996): 1Export Date: 18 March 2013Source: Scopus},
	month = {2011///},
	pages = {1580 - 1583},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-83455217478\&partnerID=40\&md5=390b4f6ea81bf9b7663fa45be23d8c73},
	author = {Bettencourt, C. and Raposo, M. and Kazachkova, N. and Cymbron, T. and Santos, C. and Kay, T. and Vasconcelos, J. and MacIel, P. and Donis, K.C. and Saraiva-Pereira, M.L. and Jardim, L.B. and Sequeiros, J. and Lima, M.}
}
@article {3197,
	title = {Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?},
	journal = {Clinical Genetics},
	volume = {79},
	year = {2011},
	note = {Cited By (since 1996): 3Export Date: 18 March 2013Source: Scopus},
	month = {2011///},
	pages = {100 - 102},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-78650010388\&partnerID=40\&md5=69ab709285de64e581228fd1848c5c6c},
	author = {Emmel, V.E. and Alonso, I. and Jardim, L.B. and Saraiva-Pereira, M.L. and Sequeiros, J.}
}
@book {3089,
	title = {Epidemiology and population genetics of degenerative ataxias},
	series = {Handbook of Clinical Neurology},
	volume = {103},
	year = {2011},
	note = {Export Date: 18 March 2013Source: Scopus},
	month = {2011///},
	pages = {227 - 251},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-79961162688\&partnerID=40\&md5=7ae88ee3a53d2c9b2cd7d9cd8d225033},
	author = {Sequeiros, J. and Martins, S. and Silveira, I.}
}
@article {3111,
	title = {FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes},
	journal = {Behavioral and Brain Functions},
	volume = {7},
	year = {2011},
	note = {Export Date: 18 March 2013Source: ScopusArt. No.: 19},
	month = {2011///},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-79957829884\&partnerID=40\&md5=2be467541a40dac8980e300ecb23245a},
	author = {Seixas, A.I. and Vale, J. and Jorge, P. and Marques, I. and Santos, R. and Alonso, I. and Fortuna, A.M. and Pinto-Basto, J. and Coutinho, P. and Margolis, R.L. and Sequeiros, J. and Silveira, I.}
}
@article {3154,
	title = {Genetic testing and common disorders in a public health framework: How to assess relevance and possibilities},
	journal = {European Journal of Human Genetics},
	volume = {19},
	year = {2011},
	note = {Cited By (since 1996): 12Export Date: 18 March 2013Source: Scopus},
	month = {2011///},
	pages = {S6 - S44},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-79952763424\&partnerID=40\&md5=393ef9dff2257491160e896cdc5e614d},
	author = {Becker, F. and Van El, C.G. and Ibarreta, D. and Zika, E. and Hogarth, S. and Borry, P. and Cambon-Thomsen, A. and Cassiman, J.J. and Evers-Kiebooms, G. and Hodgson, S. and Janssens, A.C.J.W. and Kaariainen, H. and Krawczak, M. and Kristoffersson, U. and Lubinski, J. and Patch, C. and Penchaszadeh, V.B. and Read, A. and Rogowski, W. and Sequeiros, J. and Tranebjaerg, L. and Van Langen, I.M. and Wallace, H. and Zimmern, R. and Schmidtke, J. and Cornel, M.C.}
}
@article {3203,
	title = {Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes},
	journal = {Brain and Development},
	volume = {33},
	year = {2011},
	note = {Cited By (since 1996): 6Export Date: 18 March 2013Source: Scopus},
	month = {2011///},
	pages = {69 - 76},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-78650306582\&partnerID=40\&md5=dbee11e58af80969218350cb4b562c2e},
	author = {Temudo, T. and Santos, M. and Ramos, E. and Dias, K. and Vieira, J.P. and Moreira, A. and Calado, E. and Carrilho, I. and Oliveira, G. and Levy, A. and Barbot, C. and Fonseca, M. and Cabral, A. and Cabral, P. and Monteiro, J. and Borges, L. and Gomes, R. and Mira, G. and Aires Pereira, S. and Santos, M. and Fernandes, A. and Epplen, J.T. and Sequeiros, J. and MacIel, P.}
}
@article {3151,
	title = {A role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients},
	journal = {European Journal of Neurology},
	volume = {18},
	year = {2011},
	note = {Cited By (since 1996): 4Export Date: 18 March 2013Source: Scopus},
	month = {2011///},
	pages = {649 - 655},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-79952721018\&partnerID=40\&md5=2c06712d4c8eb476a1024b9e336d28ad},
	author = {Lemos, C. and Neto, J.L. and Pereira-Monteiro, J. and Mendon{\c c}a, D. and Barros, J. and Sequeiros, J. and Alonso, I. and Sousa, A.}
}
@article {3124,
	title = {Y-STR haplotypes in three ethnic linguistic groups of Angola population},
	journal = {Forensic Science International: Genetics},
	volume = {5},
	year = {2011},
	note = {Cited By (since 1996): 1Export Date: 18 March 2013Source: Scopus},
	month = {2011///},
	pages = {e83 - e88},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-79953845510\&partnerID=40\&md5=4c952e0cb6fb69a678e4735336d640ec},
	author = {Melo, M.M. and Carvalho, M. and Lopes, V. and Anjos, M.J. and Serra, A. and Vieira, D.N. and Sequeiros, J. and Corte-Real, F.}
}
@article {3366,
	title = {Ataxia and progressive encephalopathy in a 4-year-old girl},
	journal = {Laboratory Medicine},
	volume = {41},
	year = {2010},
	note = {Cited By (since 1996): 1Export Date: 18 March 2013Source: Scopus},
	month = {2010///},
	pages = {5 - 9},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-77952007680\&partnerID=40\&md5=f9fd1183d7acabe6845ec444967b5971},
	author = {Spears, M.D. and Melton, S. and Mao, Q. and Payne, D. and Rakheja, D. and Hatanpaa, K.J. and Burns, D.K. and Sequeiros, J. and Alonso, I.}
}
@article {3367,
	title = {Autosomal dominant cerebellar ataxia: Frequency analysis and clinical characterization of 45 families from Portugal},
	journal = {European Journal of Neurology},
	volume = {17},
	year = {2010},
	note = {Cited By (since 1996): 6Export Date: 18 March 2013Source: Scopus},
	month = {2010///},
	pages = {124 - 128},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-73449139787\&partnerID=40\&md5=d65413d358bdb0682d35f110b8398b03},
	author = {Vale, J. and Bugalho, P. and Silveira, I. and Sequeiros, J. and Guimar{\~a}es, J. and Coutinho, P.}
}
@article {3227,
	title = {BDNF and CGRP interaction: Implications in migraine susceptibility},
	journal = {Cephalalgia},
	volume = {30},
	year = {2010},
	note = {Cited By (since 1996): 8Export Date: 18 March 2013Source: Scopus},
	month = {2010///},
	pages = {1375 - 1382},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-79751474283\&partnerID=40\&md5=230fb7a7d2d342cd685b6d72197f644a},
	author = {Lemos, C. and Mendon{\c c}a, D. and Pereira-Monteiro, J. and Barros, J. and Sequeiros, J. and Alonso, I. and Sousa, A.}
}
@article {3343,
	title = {Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2)},
	journal = {American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics},
	volume = {153},
	year = {2010},
	note = {Cited By (since 1996): 4Export Date: 18 March 2013Source: Scopus},
	month = {2010///},
	pages = {524 - 531},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-77349087351\&partnerID=40\&md5=bde1fb216daf4d250e900def52a9f35e},
	author = {Ramos, E.M. and Martins, S. and Alonso, I. and Emmel, V.E. and Saraiva-Pereira, M.L. and Jardim, L.B. and Coutinho, P. and Sequeiros, J. and Silveira, I.}
}
@article {3228,
	title = {Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias},
	journal = {European Journal of Human Genetics},
	volume = {18},
	year = {2010},
	note = {Cited By (since 1996): 7Export Date: 18 March 2013Source: Scopus},
	month = {2010///},
	pages = {1188 - 1195},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-77958472984\&partnerID=40\&md5=0493da7baa54bc160b8455418dbb5e64},
	author = {Sequeiros, J. and Seneca, S. and Martindale, J.}
}
@article {3212,
	title = {Death anxiety and symbolic immortality in relatives at risk for familial amyloid polyneuropathy type I (FAP I, ATTR V30M)},
	journal = {Journal of Genetic Counseling},
	volume = {19},
	year = {2010},
	note = {Export Date: 18 March 2013Source: Scopus},
	month = {2010///},
	pages = {585 - 592},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-78650174495\&partnerID=40\&md5=9bbc929bc802febbad0f8cf4f140a024},
	author = {Santos, P.I. and Figueiredo, E. and Gomes, I. and Sequeiros, J.}
}
@article {3246,
	title = {A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura},
	journal = {Nature Medicine},
	volume = {16},
	year = {2010},
	note = {Cited By (since 1996): 57Export Date: 18 March 2013Source: Scopus},
	month = {2010///},
	pages = {1157 - 1160},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-77957812064\&partnerID=40\&md5=55ad21fca8f550acdf6f77506734d9fd},
	author = {Lafreni{\`e}re, R.G. and Cader, M.Z. and Poulin, J.-F. and Andres-Enguix, I. and Simoneau, M. and Gupta, N. and Boisvert, K. and Lafreni{\`e}re, F. and McLaughlan, S. and Dub{\'e}, M.-P. and Marcinkiewicz, M.M. and Ramagopalan, S. and Ansorge, O. and Brais, B. and Sequeiros, J. and Pereira-Monteiro, J.M. and Griffiths, L.R. and Tucker, S.J. and Ebers, G. and Rouleau, G.A.}
}
@article {3232,
	title = {EMQN Best Practice Guidelines for molecular genetic testing of SCAs},
	journal = {European Journal of Human Genetics},
	volume = {18},
	year = {2010},
	note = {Cited By (since 1996): 6Export Date: 18 March 2013Source: Scopus},
	month = {2010///},
	pages = {1173 - 1176},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-77958511342\&partnerID=40\&md5=4af9f35bf3dc60e8c5828f8644b94a1f},
	author = {Sequeiros, J. and Martindale, J. and Seneca, S.}
}
@article {3328,
	title = {Evidence of syntaxin 1A involvement in migraine susceptibility: A Portuguese study},
	journal = {Archives of Neurology},
	volume = {67},
	year = {2010},
	note = {Cited By (since 1996): 4Export Date: 18 March 2013Source: Scopus},
	month = {2010///},
	pages = {422 - 427},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-77950873164\&partnerID=40\&md5=55ea4d8062d60b0fb8f401afac3cb2e4},
	author = {Lemos, C. and Pereira-Monteiro, J. and Mendon{\c c}a, D. and Ramos, E.M. and Barros, J. and Sequeiros, J. and Alonso, I. and Sousa, A.}
}
@article {3215,
	title = {Genetic screening in Europe},
	journal = {Public Health Genomics},
	volume = {13},
	year = {2010},
	note = {Cited By (since 1996): 1Export Date: 18 March 2013Source: Scopus},
	month = {2010///},
	pages = {524 - 537},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-78650223092\&partnerID=40\&md5=6af5a701634832f0dd21b6c9b5465243},
	author = {Javaher, P. and Nyoungui, E. and K{\"a}{\"a}ri{\"a}inen, H. and Kristoffersson, U. and Nippert, I. and Sequeiros, J. and Schmidtke, J.}
}
@article {3251,
	title = {Genetic study of 15 STRs loci of Identifiler system in Angola population},
	journal = {Forensic Science International: Genetics},
	volume = {4},
	year = {2010},
	note = {Cited By (since 1996): 2Export Date: 18 March 2013Source: Scopus},
	month = {2010///},
	pages = {e153 - e157},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-77956909247\&partnerID=40\&md5=e6719b04f522bed8be53d76a0e231051},
	author = {Melo, M.M. and Carvalho, M. and Lopes, V. and Anjos, M.J. and Serra, A. and Vieira, D.N. and Sequeiros, J. and Corte-Real, F.}
}
@article {3252,
	title = {Large normal and reduced penetrance alleles in Huntington disease: Instability in families and frequency at the laboratory, at the clinic and in the population},
	journal = {Clinical Genetics},
	volume = {78},
	year = {2010},
	note = {Cited By (since 1996): 6Export Date: 18 March 2013Source: Scopus},
	month = {2010///},
	pages = {381 - 387},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-77956413099\&partnerID=40\&md5=49d07a08a3970dcd0cba57cb2e76bfeb},
	author = {Sequeiros, J. and Ramos, E.M. and Cerqueira, J. and Costa, M.C. and Sousa, A. and Pinto-Basto, J. and Alonso, I.}
}
@article {3348,
	title = {Nutrition and gastrointestinal disorders in Rett syndrome: Importance of early intervention},
	journal = {Trastornos nutricionales y gastrointestinales en el s{\'\i}ndrome de Rett: importancia de la intervenci{\'o}n tempranaAnales de Pediatria},
	volume = {72},
	year = {2010},
	note = {Cited By (since 1996): 1Export Date: 18 March 2013Source: Scopus},
	month = {2010///},
	pages = {191 - 198},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-77649338952\&partnerID=40\&md5=a16542d86e0b0543c9456be38813f666},
	author = {Prior, C. and Nunes, A. and Rios, M. and Sequeiros, J. and MacIel, P. and Gomes, L. and Temudo, T.}
}
@article {3535,
	title = {Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)},
	journal = {PLoS ONE},
	volume = {4},
	year = {2009},
	note = {Cited By (since 1996): 8Export Date: 18 March 2013Source: ScopusArt. No.: e4553},
	month = {2009///},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-62349092631\&partnerID=40\&md5=c8b9608dcf3e879b501d34e20b01be07},
	author = {Almeida, T. and Alonso, I. and Martins, S. and Ramos, E.M. and Azevedo, L. and Ohno, K. and Amorim, A. and Saraiva-Pereira, M.L. and Jardim, L.B. and Matsuura, T. and Sequeiros, J. and Silveira, I.}
}
@article {3424,
	title = {Ataxia with oculomotor apraxia type 2: Clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients},
	journal = {Brain},
	volume = {132},
	year = {2009},
	note = {Cited By (since 1996): 31Export Date: 18 March 2013Source: Scopus},
	month = {2009///},
	pages = {2688 - 2698},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-70349957925\&partnerID=40\&md5=a01e93ab1ccf1b09cf2bd62df2466e11},
	author = {Anheim, M. and Monga, B. and Fleury, M. and Charles, P. and Barbot, C. and Salih, M. and Delaunoy, J.P. and Fritsch, M. and Arning, L. and Synofzik, M. and Sch{\"o}ls, L. and Sequeiros, J. and Goizet, C. and Marelli, C. and Le Ber, I. and Koht, J. and Gazulla, J. and De Bleecker, J. and Mukhtar, M. and Drouot, N. and Ali-Pacha, L. and Benhassine, T. and Chbicheb, M. and M{\textquoteright}Zahem, A. and Hamri, A. and Chabrol, B. and Pouget, J. and Murphy, R. and Watanabe, M. and Coutinho, P. and Tazir, M. and Durr, A. and Brice, A. and Tranchant, C. and Koenig, M.}
}
@article {3497,
	title = {Direct to consumer genetic tests},
	journal = {European Journal of Human Genetics},
	volume = {17},
	year = {2009},
	note = {Cited By (since 1996): 5Export Date: 18 March 2013Source: Scopus},
	month = {2009///},
	pages = {1111},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-69249202363\&partnerID=40\&md5=ad83a40df8ff26c584fbb82b7db08508},
	author = {Patch, C. and Sequeiros, J. and Cornel, M.C.}
}
@article {3553,
	title = {Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment},
	journal = {Brain and Development},
	volume = {31},
	year = {2009},
	note = {Cited By (since 1996): 18Export Date: 18 March 2013Source: Scopus},
	month = {2009///},
	pages = {46 - 51},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-57449115631\&partnerID=40\&md5=84a65ee3ca73a97950bf095add3212c3},
	author = {Temudo, T. and Rios, M. and Prior, C. and Carrilho, I. and Santos, M. and MacIel, P. and Sequeiros, J. and Fonseca, M. and Monteiro, J. and Cabral, P. and Vieira, J.P. and Ormazabal, A. and Artuch, R.}
}
@article {3527,
	title = {Familial clustering of migraine: Further evidence from a portuguese study},
	journal = {Headache},
	volume = {49},
	year = {2009},
	note = {Cited By (since 1996): 8Export Date: 18 March 2013Source: Scopus},
	month = {2009///},
	pages = {404 - 411},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-61349169629\&partnerID=40\&md5=b1cb1ccaf402ca0369140dc8186aab9b},
	author = {Lemos, C. and Castro, M.-J. and Barros, J. and Sequeiros, J. and Pereira-Monteiro, J. and Mendon{\c c}a, D. and Sousa, A.}
}
@article {3528,
	title = {First mutation in the voltage-gated NaV1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy},
	journal = {Cephalalgia},
	volume = {29},
	year = {2009},
	note = {Cited By (since 1996): 26Export Date: 18 March 2013Source: Scopus},
	month = {2009///},
	pages = {308 - 313},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-59149098688\&partnerID=40\&md5=701e9a1dcd7905bc37bc5d121ff6c1a6},
	author = {Castro, M.-J. and Stam, A.H. and Lemos, C. and De Vries, B. and Vanmolkot, K.R.J. and Barros, J. and Terwindt, G.M. and Frants, R.R. and Sequeiros, J. and Ferrari, M.D. and Pereira-Monteiro, J.M. and Van Den Maagdenberg, A.M.J.M.}
}
@article {3547,
	title = {Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families},
	journal = {Acta Neurologica Scandinavica},
	volume = {119},
	year = {2009},
	note = {Cited By (since 1996): 8Export Date: 18 March 2013Source: Scopus},
	month = {2009///},
	pages = {113 - 118},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-58449105920\&partnerID=40\&md5=21aa5c4a0b61801315ec7d0f6806067f},
	author = {Loureiro, J.L. and Miller-Fleming, L. and Thieleke-Matos, C. and Magalh{\~a}es, P. and Cruz, V.T. and Coutinho, P. and Sequeiros, J. and Silveira, I.}
}
@article {3541,
	title = {Response to Tumas et al},
	journal = {Clinical Genetics},
	volume = {75},
	year = {2009},
	note = {Cited By (since 1996): 1Export Date: 18 March 2013Source: Scopus},
	month = {2009///},
	pages = {208},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-58849149474\&partnerID=40\&md5=db791433429107e3b4546ec9b9d3b3d5},
	author = {Sequeiros, J. and Santos, C. and Jardim, L.B.}
}
@article {3430,
	title = {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},
	journal = {Journal of Genetic Counseling},
	volume = {18},
	year = {2009},
	note = {Cited By (since 1996): 5Export Date: 18 March 2013Source: Scopus},
	month = {2009///},
	pages = {483 - 493},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-70349664486\&partnerID=40\&md5=d76e7ed9dd6f6a05cfa3d744fda468b9},
	author = {Paneque, M. and Lemos, C. and Sousa, A. and Vel{\'a}zquez, L. and Fleming, M. and Sequeiros, J.}
}
@article {3729,
	title = {Atypical stereotypies and vocal ties in rett syndrome: An illustrative case},
	journal = {Movement Disorders},
	volume = {23},
	year = {2008},
	note = {Cited By (since 1996): 1Export Date: 18 March 2013Source: Scopus},
	month = {2008///},
	pages = {622 - 623},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-47549087563\&partnerID=40\&md5=226abf908302634a938b88150d91c306},
	author = {Temudo, T. and Freitas, P. and Sequeiros, J. and MacIel, P. and Oliveira, G.}
}
@article {3589,
	title = {The C677T polymorphism in MTHFR is not associated with migraine in Portugal},
	journal = {Disease Markers},
	volume = {25},
	year = {2008},
	note = {Cited By (since 1996): 5Export Date: 18 March 2013Source: Scopus},
	month = {2008///},
	pages = {107 - 113},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-55449110399\&partnerID=40\&md5=bce9fcc419b44b511ac0dcab209c98ef},
	author = {Ferro, A. and Castro, M.-J. and Lemos, C. and Santos, M. and Sousa, A. and Pereira-Monteiro, J. and Sequeiros, J. and MacIel, P.}
}
@article {3684,
	title = {Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease},
	journal = {American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics},
	volume = {147},
	year = {2008},
	note = {Cited By (since 1996): 6Export Date: 18 March 2013Source: Scopus},
	month = {2008///},
	pages = {439 - 446},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-45149108691\&partnerID=40\&md5=1a5ea09046cee4c5eba96f95163baceb},
	author = {Martins, S. and Coutinho, P. and Silveira, I. and Giunti, P. and Jardim, L.B. and Calafell, F. and Sequeiros, J. and Amorim, A.}
}
@article {3759,
	title = {EuroGentest: DNA-based testing for heritable disorders in Europe},
	journal = {Community Genetics},
	volume = {11},
	year = {2008},
	note = {Cited By (since 1996): 19Export Date: 18 March 2013Source: Scopus},
	month = {2008///},
	pages = {75 - 120},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-38349193707\&partnerID=40\&md5=ed58e74f4534e6e55d25cc60e5a20a05},
	author = {Javaher, P. and K{\"a}{\"a}ri{\"a}inen, H. and Kristoffersson, U. and Nippert, I. and Sequeiros, J. and Zimmern, R. and Schmidtke, J.}
}
@article {3656,
	title = {Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias},
	journal = {European Journal of Human Genetics},
	volume = {16},
	year = {2008},
	note = {Cited By (since 1996): 12Export Date: 18 March 2013Source: Scopus},
	month = {2008///},
	pages = {913 - 920},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-48249128741\&partnerID=40\&md5=73d2af57021a502c6a58c54c79e96732},
	author = {Seneca, S. and Morris, M.A. and Patton, S. and Elles, R. and Sequeiros, J.}
}
@article {3702,
	title = {Huntington disease-like 2: The first patient with apparent European ancestry},
	journal = {Clinical Genetics},
	volume = {73},
	year = {2008},
	note = {Cited By (since 1996): 11Export Date: 18 March 2013Source: Scopus},
	month = {2008///},
	pages = {480 - 485},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-42049114293\&partnerID=40\&md5=60e339bea69de6add53b33a7032eb678},
	author = {Santos, C. and Wanderley, H. and Vedolin, L. and Pena, S.D.J. and Jardim, L. and Sequeiros, J.}
}
@article {3763,
	title = {Machado-Joseph disease enhances genetic fitness: A comparison between affected and unaffected women and between MJD and the general population},
	journal = {Annals of Human Genetics},
	volume = {72},
	year = {2008},
	note = {Cited By (since 1996): 5Export Date: 18 March 2013Source: Scopus},
	month = {2008///},
	pages = {57 - 64},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-37849028591\&partnerID=40\&md5=c6e066c3562128930c57afb0a649f124},
	author = {Prestes, P.R. and Saraiva-Pereira, M.L. and Silveira, I. and Sequeiros, J. and Jardim, L.B.}
}
@article {3599,
	title = {Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant},
	journal = {Neurobiology of Aging},
	volume = {29},
	year = {2008},
	note = {Cited By (since 1996): 9Export Date: 18 March 2013Source: Scopus},
	month = {2008///},
	pages = {1733 - 1743},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-51449092440\&partnerID=40\&md5=fc7020a27ed6c42f8d360e2351bfca9b},
	author = {Alonso, I. and Marques, J.M. and Sousa, N. and Sequeiros, J. and Olsson, I.A.S. and Silveira, I.}
}
@article {3662,
	title = {Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type},
	journal = {Movement Disorders},
	volume = {23},
	year = {2008},
	note = {Cited By (since 1996): 11Export Date: 18 March 2013Source: Scopus},
	month = {2008///},
	pages = {1384 - 1390},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-52649103043\&partnerID=40\&md5=d7e37f8c43efc09b74fd9f58f22875e5},
	author = {Temudo, T. and Ramos, E. and Dias, K. and Barbot, C. and Vieira, J.P. and Moreira, A. and Calado, E. and Carrilho, I. and Oliveira, G. and Levy, A. and Fonseca, M. and Cabral, A. and Cabral, P. and Monteiro, J.P. and Borges, L. and Gomes, R. and Santos, M. and Sequeiros, J. and MacIel, P.}
}
@article {3707,
	title = {Patenting and licensing in genetic testing: Recommendations of the European Society of Human Genetics},
	journal = {European Journal of Human Genetics},
	volume = {16},
	year = {2008},
	note = {Cited By (since 1996): 7Export Date: 18 March 2013Source: Scopus},
	month = {2008///},
	pages = {S3 - S9},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-47149100308\&partnerID=40\&md5=14978124828df2f650e88a9c704f4a3b},
	author = {Aym{\'e}, S. and Matthijs, G. and Anastasiadou, V. and Atalar, F. and Braga, S. and Burn, J. and Cassiman, J.-J. and Cornel, M. and Coviello, D. and Evers-Kiebooms, G. and Gorry, P. and Hodgson, S. and K{\"a}{\"a}ri{\"a}inen, H. and Kosztol{\'a}nyl, G. and Kristoffersson, U. and Macek Jr., M. and Patch, C. and Schmidtke, J. and Sequeiros, J. and Stoppa-Lyonnet, D. and Tranebj{\ae}rg, L. and van Heyningen, V. and van Ommen, G.-J.}
}
@article {3664,
	title = {Regulations and practices of genetic counselling in 38 European countries: The perspective of national representatives},
	journal = {European Journal of Human Genetics},
	volume = {16},
	year = {2008},
	note = {Cited By (since 1996): 6Export Date: 18 March 2013Source: Scopus},
	month = {2008///},
	pages = {1208 - 1216},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-53249134468\&partnerID=40\&md5=e53870e7b2e0819cf1205beb93e01987},
	author = {Rantanen, E. and Hietala, M. and Kristoffersson, U. and Nippert, I. and Schmidtke, J. and Sequeiros, J. and K{\"a}{\"a}ri{\"a}inen, H.}
}
@article {3766,
	title = {Two novel functional mutations in the Na+, K+ -ATPase α2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes},
	journal = {Clinical Genetics},
	volume = {73},
	year = {2008},
	note = {Cited By (since 1996): 11Export Date: 18 March 2013Source: Scopus},
	month = {2008///},
	pages = {37 - 43},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-37249054940\&partnerID=40\&md5=6055c7b55b228f690bfdb995bbe636ee},
	author = {Castro, M.-J. and Nunes, B. and De Vries, B. and Lemos, C. and Vanmolkot, K.R.J. and van den Heuvel, J.J.M.W. and Temudo, T. and Barros, J. and Sequeiros, J. and Frants, R.R. and Koenderink, J.B. and Pereira-Monteiro, J.M. and Van Den Maagdenberg, A.M.J.M.}
}
@article {3725,
	title = {What is ideal genetic counselling? A survey of current international guidelines},
	journal = {European Journal of Human Genetics},
	volume = {16},
	year = {2008},
	note = {Cited By (since 1996): 20Export Date: 18 March 2013Source: Scopus},
	month = {2008///},
	pages = {445 - 452},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-41049085395\&partnerID=40\&md5=ab3706867abb4904e7c86c12f1056a4a},
	author = {Rantanen, E. and Hietala, M. and Kristoffersson, U. and Nippert, I. and Schmidtke, J. and Sequeiros, J. and K{\"a}{\"a}ri{\"a}inen, H.}
}
@article {3784,
	title = {Abnormal movements in rett syndrome are present before the regression period: A case study},
	journal = {Movement Disorders},
	volume = {22},
	year = {2007},
	note = {Cited By (since 1996): 7Export Date: 18 March 2013Source: Scopus},
	month = {2007///},
	pages = {2284 - 2287},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-38049016457\&partnerID=40\&md5=49e3655e366e46b8bbc6d782124670eb},
	author = {Temudo, T. and MacIel, P. and Sequeiros, J.}
}
@article {3804,
	title = {Asian origin for the worldwide-spread mutational event in Machado-Joseph disease},
	journal = {Archives of Neurology},
	volume = {64},
	year = {2007},
	note = {Cited By (since 1996): 15Export Date: 18 March 2013Source: Scopus},
	month = {2007///},
	pages = {1502 - 1508},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-35348877394\&partnerID=40\&md5=7855f1e2b01a891edeef774abafe31c3},
	author = {Martins, S. and Calafell, F. and Gaspar, C. and Wong, V.C.N. and Silveira, I. and Nicholson, G.A. and Brunt, E.R. and Tranebjaerg, L. and Stevanin, G. and Hsieh, M. and Soong, B.-W. and Loureiro, L. and D{\"u}rr, A. and Tsuji, S. and Watanabe, M. and Jardim, L.B. and Giunti, P. and Riess, O. and Ranum P, L.P.W. and Brice, A. and Rouleau, G.A. and Coutinho, P. and Amorim, A. and Sequeiros, J.}
}
@article {3901,
	title = {Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3},
	journal = {FASEB Journal},
	volume = {21},
	year = {2007},
	note = {Cited By (since 1996): 19Export Date: 18 March 2013Source: Scopus},
	month = {2007///},
	pages = {1126 - 1136},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-33947637692\&partnerID=40\&md5=26bb0ba199e3753c4a3b713ac7191afd},
	author = {Rodrigues, A.-J. and Coppola, G. and Santos, C. and Costa, M.D.C. and Ailion, M. and Sequeiros, J. and Geschwind, D.H. and MacIel, P.}
}
@article {3793,
	title = {NEDD8: A new ataxin-3 interactor},
	journal = {Biochimica et Biophysica Acta - Molecular Cell Research},
	volume = {1773},
	year = {2007},
	note = {Cited By (since 1996): 20Export Date: 18 March 2013Source: Scopus},
	month = {2007///},
	pages = {1619 - 1627},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-35548938484\&partnerID=40\&md5=be3c0930ba202d010b5cdf7de9369f1c},
	author = {Ferro, A. and Carvalho, A.L. and Teixeira-Castro, A. and Almeida, C. and Tom{\'e}, R.J. and Cortes, L. and Rodrigues, A.-J. and Logarinho, E. and Sequeiros, J. and Macedo-Ribeiro, S. and MacIel, P.}
}
@article {3841,
	title = {Psychological follow-up of presymptomatic genetic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba},
	journal = {Journal of Genetic Counseling},
	volume = {16},
	year = {2007},
	note = {Cited By (since 1996): 6Export Date: 18 March 2013Source: Scopus},
	month = {2007///},
	pages = {469 - 479},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-34548163596\&partnerID=40\&md5=99da67ffcffa2eef1295edefe1081e4c},
	author = {Paneque, M. and Lemos, C. and Escalona, K. and Prieto, L. and Reynaldo, R. and Vel{\'a}zquez, M. and Quevedo, J. and Santos, N. and Almaguer, L.E. and Vel{\'a}zquez, L. and Sousa, A. and Fleming, M. and Sequeiros, J.}
}
@article {3778,
	title = {Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine},
	journal = {Journal of Human Genetics},
	volume = {52},
	year = {2007},
	note = {Cited By (since 1996): 13Export Date: 18 March 2013Source: Scopus},
	month = {2007///},
	pages = {990 - 998},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-36448998130\&partnerID=40\&md5=fedaa6e8e9fc98d039a39e2867faf2fc},
	author = {Castro, M.-J. and Stam, A.H. and Lemos, C. and Barros, J. and Gouveia, R.G. and Martins, I.P. and Koenderink, J.B. and Vanmolkot, K.R.J. and Mendes, A.P. and Frants, R.R. and Ferrari, M.D. and Sequeiros, J. and Pereira-Monteiro, J.M. and Van Den Maagdenberg, A.M.J.M.}
}
@article {3881,
	title = {Report of an international survey of molecular genetic testing laboratories},
	journal = {Community Genetics},
	volume = {10},
	year = {2007},
	note = {Cited By (since 1996): 17Export Date: 18 March 2013Source: Scopus},
	month = {2007///},
	pages = {123 - 131},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-34250661925\&partnerID=40\&md5=4f61afc698f1dacb402741ae9b4ba447},
	author = {McGovern, M.M. and Elles, R. and Beretta, I. and Somerville, M.J. and Hoefler, G. and Keinanen, M. and Barton, D. and Carson, N. and Dequeker, E. and Brdicka, R. and Blazkova, A. and Aym{\'e}, S. and Schnieders, B. and M{\"u}ller, C.R. and Dalen, V. and Martinez, A.A. and Kristoffersson, U. and Ozguc, M. and Mueller, H. and Boone, J. and Lubin, I.M. and Sequeiros, J. and Taruscio, D. and Williamson, B. and Mainland, L. and Yoshikura, H. and Ronchi, E.}
}
@article {3905,
	title = {Stereotypies in Rett syndrome: Analysis of 83 patients with and without detected MECP2 mutations},
	journal = {Neurology},
	volume = {68},
	year = {2007},
	note = {Cited By (since 1996): 18Export Date: 18 March 2013Source: Scopus},
	month = {2007///},
	pages = {1183 - 1187},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-34247264830\&partnerID=40\&md5=82d94170bb8d59e9ca4badd695d2b384},
	author = {Temudo, T. and Oliveira, P. and Santos, M. and Dias, K. and Vieira, J. and Moreira, A. and Calado, E. and Carrilho, I. and Oliveira, G. and Levy, A. and Barbot, C. and Fonseca, M. and Cabral, A. and Dias, A. and Cabral, P. and Monteiro, J. and Borges, L. and Gomes, R. and Barbosa, C. and Mira, G. and Eus{\'e}bio, F. and Santos, M. and Sequeiros, J. and MacIel, P.}
}
@article {4079,
	title = {The CAG repeat at the Huntington disease gene in the Portuguese population: Insights into its dynamics and to the origin of the mutation},
	journal = {Journal of Human Genetics},
	volume = {51},
	year = {2006},
	note = {Cited By (since 1996): 8Export Date: 18 March 2013Source: Scopus},
	month = {2006///},
	pages = {189 - 195},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-33645229779\&partnerID=40\&md5=cc564d56544dd7e5b10401eb745b4b13},
	author = {Costa, M.D.C. and Magalh{\~a}es, P. and Guimar{\~a}es, L. and MacIel, P. and Sequeiros, J. and Sousa, A.}
}
@article {4086,
	title = {Corino Andrade (1906-2005): a clinical geneticist before its own time.},
	journal = {Clinical genetics},
	volume = {69},
	year = {2006},
	note = {Cited By (since 1996): 2Export Date: 18 March 2013Source: Scopus},
	month = {2006///},
	pages = {194 - 196},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-33645472506\&partnerID=40\&md5=c4994cc8194071a02528bfac0387f862},
	author = {Sequeiros, J.}
}
@article {3966,
	title = {Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives},
	journal = {Community Genetics},
	volume = {10},
	year = {2006},
	note = {Cited By (since 1996): 11Export Date: 18 March 2013Source: Scopus},
	month = {2006///},
	pages = {19 - 26},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-33845774797\&partnerID=40\&md5=48077dbfdd40e308e28baecd5165f272},
	author = {Cecchin, C.R. and Pires, A.P. and Rieder, C.R. and Monte, T.L. and Silveira, I. and Carvalho, T. and Saraiva-Pereira, M.L. and Sequeiros, J. and Jardim, L.B.}
}
@article {4015,
	title = {Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype},
	journal = {Journal of Human Genetics},
	volume = {51},
	year = {2006},
	note = {Cited By (since 1996): 13Export Date: 18 March 2013Source: Scopus},
	month = {2006///},
	pages = {645 - 651},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-77952878970\&partnerID=40\&md5=06556bbe8033f2aee296c9362b5a1d3a},
	author = {Costa, M.D.C. and Teixeira-Castro, A. and Constante, M. and Magalh{\~a}es, M. and Magalh{\~a}es, P. and Cerqueira, J. and Vale, J. and Pass{\~a}o, V. and Barbosa, C. and Robalo, C. and Coutinho, P. and Barros, J. and Santos, M.M. and Sequeiros, J. and MacIel, P.}
}
@article {4061,
	title = {The interface between assisted reproductive technologies and genetics: Technical, social, ethical and legal issues},
	journal = {European Journal of Human Genetics},
	volume = {14},
	year = {2006},
	note = {Cited By (since 1996): 61Export Date: 18 March 2013Source: Scopus},
	month = {2006///},
	pages = {588 - 645},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-33646018344\&partnerID=40\&md5=ab78128c0243e33046d9be2c7202934c},
	author = {Soini, S. and Ibarreta, D. and Anastasiadou, V. and Aym{\'e}, S{\'e}. and Braga, S. and Cornel, M. and Coviello, D.A. and Evers-Kiebooms, G. and Geraedts, J. and Gianaroli, L. and Harper, J. and Kosztolanyi, G. and Lundin, K. and Rodrigues-Cerezo, E. and Sermon, K. and Sequeiros, J. and Tranebjaerg, L. and K{\"a}{\"a}ri{\"a}inen, H.}
}
@article {4010,
	title = {A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus},
	journal = {European Journal of Human Genetics},
	volume = {14},
	year = {2006},
	note = {Cited By (since 1996): 10Export Date: 18 March 2013Source: Scopus},
	month = {2006///},
	pages = {932 - 940},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-33746366792\&partnerID=40\&md5=47df4da10781bb9ac8845c0f4d747f6b},
	author = {Martins, S. and Calafell, F. and Wong, V.C.N. and Sequeiros, J. and Amorim, A.}
}
@article {3998,
	title = {The perceived advantages and disadvantages of presymptomatic testing for Machado-Joseph disease: Development of a new self-response inventory},
	journal = {Journal of Genetic Counseling},
	volume = {15},
	year = {2006},
	note = {Export Date: 18 March 2013Source: Scopus},
	month = {2006///},
	pages = {375 - 391},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-33749872841\&partnerID=40\&md5=dc3ba3f55147ffa56f1bc03fe7162690},
	author = {Rolim, L. and Zagalo-Cardoso, J.A. and Pa{\'u}l, C. and Sequeiros, J. and Fleming, M.}
}
@article {4070,
	title = {Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I},
	journal = {Clinical Genetics},
	volume = {69},
	year = {2006},
	note = {Cited By (since 1996): 10Export Date: 18 March 2013Source: Scopus},
	month = {2006///},
	pages = {297 - 305},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-33645467001\&partnerID=40\&md5=7511f8f57c702faafa363df06b6e95ae},
	author = {Rolim, L. and Leite, {\^A}. and L{\^e}do, S. and Paneque, M. and Sequeiros, J. and Fleming, M.}
}
@article {4057,
	title = {Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10},
	journal = {Neurology},
	volume = {66},
	year = {2006},
	note = {Cited By (since 1996): 12Export Date: 18 March 2013Source: Scopus},
	month = {2006///},
	pages = {1602 - 1604},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-33745373901\&partnerID=40\&md5=087d4c80f899d3cf338536ce9df81f9d},
	author = {Alonso, I. and Jardim, L.B. and Artigalas, O. and Saraiva-Pereira, M.L. and Matsuura, T. and Ashizawa, T. and Sequeiros, J. and Silveira, I.}
}
@article {4023,
	title = {Spinocerebellar ataxias in 114 Brazilian families: Clinical and molecular findings [3]},
	journal = {Clinical Genetics},
	volume = {70},
	year = {2006},
	note = {Cited By (since 1996): 14Export Date: 18 March 2013Source: Scopus},
	month = {2006///},
	pages = {173 - 176},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-33745827039\&partnerID=40\&md5=de22af828de5b88d785286755acdfa57},
	author = {Trott, A. and Jardim, L.B. and Ludwig, H.T. and Saute, J.A.M. and Artigal{\'a}s, O. and Kieling, C. and Wanderley, H.Y.C. and Rieder, C.R.M. and Monte, T.L. and Socal, M. and Alonso, I. and Ferro, A. and Carvalho, T. and do C{\'e}u Moreira, M. and Mendon{\c c}a, P. and Ferreirinha, F. and Silveira, I. and Sequeiros, J. and Giugliani, R. and Saraiva-Pereira, M.L.}
}
@article {4114,
	title = {Haplotype diversity and somatic instability in normal and expanded SCA8 alleles},
	journal = {American Journal of Medical Genetics - Neuropsychiatric Genetics},
	volume = {139 B},
	year = {2005},
	note = {Cited By (since 1996): 5Export Date: 18 March 2013Source: Scopus},
	month = {2005///},
	pages = {109 - 114},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-27644506104\&partnerID=40\&md5=9f6d5bca13ae59b20f3a8f8a0d1f02f5},
	author = {Martins, S. and Seixas, A.I. and Magalh{\~a}es, P. and Coutinho, P. and Sequeiros, J. and Silveira, I.}
}
@article {4153,
	title = {Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal involvement},
	journal = {Neurology},
	volume = {65},
	year = {2005},
	note = {Cited By (since 1996): 34Export Date: 18 March 2013Source: Scopus},
	month = {2005///},
	pages = {603 - 605},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-23844553465\&partnerID=40\&md5=bb8e13589c21c86197ce6d8411a2f0a8},
	author = {MacIel, P. and Cruz, V.T. and Constante, M. and Iniesta, I. and Costa, M.C. and Gallati, S. and Sousa, N. and Sequeiros, J. and Coutinho, P. and Santos, M.M.}
}
@article {4107,
	title = {Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea},
	journal = {Neurogenetics},
	volume = {6},
	year = {2005},
	note = {Cited By (since 1996): 21Export Date: 18 March 2013Source: Scopus},
	month = {2005///},
	pages = {209 - 215},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-28344435213\&partnerID=40\&md5=ce383199ab582d3fe1a66f2b286e5acf},
	author = {do Carmo Costa, M. and Costa, C. and Silva, A.P. and Evangelista, P. and Santos, L. and Ferro, A. and Sequeiros, J. and MacIel, P.}
}
@article {4133,
	title = {A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14},
	journal = {Journal of Human Genetics},
	volume = {50},
	year = {2005},
	note = {Cited By (since 1996): 21Export Date: 18 March 2013Source: Scopus},
	month = {2005///},
	pages = {523 - 529},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-27644562111\&partnerID=40\&md5=240f114c28312907498c1576c7a34fd9},
	author = {Alonso, I. and Costa, C. and Gomes, A. and Ferro, A. and Seixas, A.I. and Silva, S. and Cruz, V.T. and Coutinho, P. and Sequeiros, J. and Silveira, I.}
}
@article {4111,
	title = {Population genetics of wild-type CAG repeats in the Machado-Joseph Disease gene in Portugal},
	journal = {Human Heredity},
	volume = {60},
	year = {2005},
	note = {Cited By (since 1996): 8Export Date: 18 March 2013Source: Scopus},
	month = {2005///},
	pages = {156 - 163},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-31144472852\&partnerID=40\&md5=2a536d1c39a9c4b16dffad407bf2e971},
	author = {Lima, M. and Costa, M.C. and Montiel, R. and Ferro, A. and Santos, C. and Silva, C. and Bettencourt, C. and Sousa, A. and Sequeiros, J. and Coutinho, P. and MacIel, P.}
}
@article {4323,
	title = {End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: Presentation, survival and prognostic factors},
	journal = {Amyloid},
	volume = {11},
	year = {2004},
	note = {Cited By (since 1996): 18Export Date: 18 March 2013Source: Scopus},
	month = {2004///},
	pages = {27 - 37},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-2542488594\&partnerID=40\&md5=2cd70eca5095e8f86d63201bce98c89f},
	author = {Lobato, L. and Beir{\~a}o, I. and Silva, M. and Fonseca, I. and Queir{\'o}s, J. and Rocha, G. and Sarmento, A.M. and Sousa, A. and Sequeiros, J.}
}
@article {4281,
	title = {Frataxin overexpressing mice},
	journal = {FEBS Letters},
	volume = {572},
	year = {2004},
	note = {Cited By (since 1996): 10Export Date: 18 March 2013Source: Scopus},
	month = {2004///},
	pages = {281 - 288},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-4143080503\&partnerID=40\&md5=5a40f890e19c6b70bdfb42dcaa688bfe},
	author = {Miranda, C.J. and Santos, M.M. and Ohshima, K. and Tessaro, M. and Sequeiros, J. and Pandolfo, M.}
}
@article {4289,
	title = {Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene},
	journal = {Genomics},
	volume = {84},
	year = {2004},
	note = {Cited By (since 1996): 13Export Date: 18 March 2013Source: Scopus},
	month = {2004///},
	pages = {361 - 373},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-3042604497\&partnerID=40\&md5=95451c78b94029e8072dc595398eae6f},
	author = {do Carmo Costa, M. and Gomes-da-Silva, J. and Miranda, C.J. and Sequeiros, J. and Santos, M.M. and MacIel, P.}
}
@article {4319,
	title = {Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin},
	journal = {Multiple Sclerosis},
	volume = {10},
	year = {2004},
	note = {Cited By (since 1996): 21Export Date: 18 March 2013Source: Scopus},
	month = {2004///},
	pages = {153 - 157},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-16544363161\&partnerID=40\&md5=c253151ad588e300b9bf28509d41d4d1},
	author = {Santos, M. and do Carmo Costa, M. and Edite Rio, M. and Jos{\'e} S{\'a}, M. and Monteiro, M. and Valen{\c c}a, A. and S{\'a}, A. and Dinis, J. and Figueiredo, J. and Bigotte de Almeida, L. and Valongueiro, A. and Coelho, I. and Matam{\'a}, M.T. and Pinto-Basto, J. and Sequeiros, J. and MacIel, P.}
}
@article {4345,
	title = {A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel α1A-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine [6]},
	journal = {Clinical Genetics},
	volume = {65},
	year = {2004},
	note = {Cited By (since 1996): 22Export Date: 18 March 2013Source: Scopus},
	month = {2004///},
	pages = {70 - 72},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-1642555626\&partnerID=40\&md5=f014842055e4d200d0b0849d28739b8d},
	author = {Alonso, I. and Barros, J. and Tuna, A. and Seixas, A. and Coutinho, P. and Sequeiros, J. and Silveira, I.}
}
@article {4352,
	title = {Pshycho-social impact of presymptomatic testing in Machado-Joseph disease},
	journal = {Impacto psicol{\'o}gico do teste pr{\'e}-sintom{\'a}tico na doen{\c c}a de Machado-Joseph. Resultados preliminaresArquivos de Medicina},
	volume = {18},
	year = {2004},
	note = {Cited By (since 1996): 2Export Date: 18 March 2013Source: Scopus},
	month = {2004///},
	pages = {72 - 75+92},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-19644395532\&partnerID=40\&md5=71afc3d118f1d764687f1aeb068c4d4e},
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}
@article {4328,
	title = {Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2},
	journal = {Nature Genetics},
	volume = {36},
	year = {2004},
	note = {Cited By (since 1996): 166Export Date: 18 March 2013Source: Scopus},
	month = {2004///},
	pages = {225 - 227},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-10744230604\&partnerID=40\&md5=64b192c75088c46e272c6374443c6f79},
	author = {Moreira, M.-C. and Klur, S. and Watanabe, M. and N{\'e}meth, A.H. and Le Ber, I. and Moniz, J.-C. and Tranchant, C. and Aubourg, P. and Tazir, M. and Sch{\"o}ls, L. and Pandolfo, M. and Schulz, J.B. and Pouget, J. and Calvas, P. and Shizuka-Ikeda, M. and Shoji, M. and Tanaka, M. and Izatt, L. and Shaw, C.E. and M{\textquoteright}Zahem, A. and Dunne, E. and Bomont, P. and Benhassine, T. and Bouslam, N. and Stevanin, G. and Brice, A. and Guimar{\~a}es, J. and Mendon{\c c}a, P. and Barbot, C. and Coutinho, P. and Sequeiros, J. and D{\"u}rr, A. and Warter, J.-M. and Koenig, M.}
}
