@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 {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 {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.}
}
@article {4884,
	title = {Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia},
	journal = {American Journal of Human Genetics},
	volume = {94},
	year = {2014},
	note = {Export Date: 25 June 2014},
	month = {2014},
	pages = {268 - 277},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84893774987\&partnerID=40\&md5=f46b0f13ecd79dfff83bab02179218f3},
	author = {Esteves, T. and Durr, A. and Mundwiller, E. and Loureiro, J.L. and Boutry, M. and Gonzalez, M. A. and Gauthier, J. and El-Hachimi, K.H. and Depienne, C. and Muriel, M.-P. and Acosta Lebrigio, R.F. and Gaussen, M. and Noreau, A. and Speziani, F. and Dionne-Laporte, A. and Deleuze, J.-F. and Dion, P. and Coutinho, P. and Rouleau, G.A. and Zuchner, S. and Brice, A. and Stevanin, G. and Darios, F.}
}
@article {4686,
	title = {Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia},
	journal = {American Journal of Human Genetics},
	volume = {93},
	year = {2013},
	note = {Cited By (since 1996):2Export Date: 8 April 2014Source: Scopus},
	month = {2013},
	pages = {118 - 123},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84880305974\&partnerID=40\&md5=9bd62a74339e861c30c693fb29641d2b},
	author = {Boukhris, A. and Schule, R. and Loureiro, J.L. and Louren{\c c}o, C.M. and Mundwiller, E. and Gonzalez, M. A. and Charles, P. and Gauthier, J. and Rekik, I. and Acosta Lebrigio, R.F. and Gaussen, M. and Speziani, F. and Ferbert, A. and Feki, I. and Caballero-Oteyza, A. and Dionne-Laporte, A. and Amri, M. and Noreau, A. and Forlani, S. and Cruz, V.T. and Mochel, F. and Coutinho, P. and Dion, P. and Mhiri, C. and Schols, L. and Pouget, J. and Darios, F. and Rouleau, G.A. and Marques Jr., W. and Brice, A. and Durr, A. and Zuchner, S. and Stevanin, G.}
}
@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 {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 {2779,
	title = {Metabolic syndrome and erectile dysfunction: Assessing the clinical and hemodynamic parameters},
	howpublished = {S{\'\i}ndrome metab{\'o}lica e disfun{\c c}{\~a}o er{\'e}ctil - avalia{\c c}{\~a}o de par{\^a}metros cl{\'\i}nicos e hemodin{\^a}micosRevista Internacional de Andrologia},
	year = {2013},
	note = {Export Date: 18 March 2013Source: ScopusArticle in Press},
	month = {2013///},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84873939967\&partnerID=40\&md5=dac40602979a2a855c508a5131dfc4f1},
	author = {Pacheco-Figueiredo, L. and Neves, E. and Coutinho, P. and Botelho, F. and Tomada, I. and Tomada, N.}
}
@article {4682,
	title = {The potential of motion quantification systems in the automatic evaluation of motor function after stroke},
	journal = {International Journal of Stroke},
	volume = {8},
	year = {2013},
	note = {Export Date: 8 April 2014Source: Scopus},
	month = {2013},
	pages = { - },
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84881533066\&partnerID=40\&md5=c68656dca7829d336a103eb1ed794c59},
	author = {Bento, V.F. and Cruz, V.T. and Ribeiro, D.D. and Branco, C. and Coutinho, P.}
}
@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.}
}
@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 {2863,
	title = {Freeze the stroke: Public awareness program for immediate detection of first symptoms},
	journal = {Stroke},
	volume = {43},
	year = {2012},
	note = {Export Date: 18 March 2013Source: Scopus},
	month = {2012///},
	pages = {2510 - 2512},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84865613308\&partnerID=40\&md5=e665f45a4082db58bbdfda7bbd68ac43},
	author = {Tedim Cruz, V. and Ara{\'u}jo, I. and Alves, I. and Magano, A. and Coutinho, P.}
}
@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 {3052,
	title = {Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): A two-case report},
	journal = {BMC Neurology},
	volume = {11},
	year = {2011},
	note = {Export Date: 18 March 2013Source: ScopusArt. No.: 131},
	month = {2011///},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-80054808790\&partnerID=40\&md5=89a2462d242c670ffc24b66f141b2d62},
	author = {Bettencourt, C. and Santos, C. and Coutinho, P. and Rizzu, P. and Vasconcelos, J. and Kay, T. and Cymbron, T. and Raposo, M. and Heutink, P. and Lima, M.}
}
@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 {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 {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 {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 {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 {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 {3926,
	title = {Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum},
	journal = {Nature Genetics},
	volume = {39},
	year = {2007},
	note = {Cited By (since 1996): 84Export Date: 18 March 2013Source: Scopus},
	month = {2007///},
	pages = {366 - 372},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-33847298447\&partnerID=40\&md5=0779140ab249f37e1319ab4044d3897d},
	author = {Stevanin, G. and Santorelli, F.M. and Azzedine, H. and Coutinho, P. and Chomilier, J. and Denora, P.S. and Martin, E. and Ouvrard-Hernandez, A.-M. and Tessa, A. and Bouslam, N. and Lossos, A. and Charles, P. and Loureiro, J.L. and Elleuch, N. and Confavreux, C. and Cruz, V.T. and Ruberg, M. and Leguern, E. and Grid, D. and Tazir, M. and Fontaine, B. and Filla, A. and Bertini, E. and Durr, A. and Brice, A.}
}
@article {3889,
	title = {A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21},
	journal = {Neurology},
	volume = {68},
	year = {2007},
	note = {Cited By (since 1996): 11Export Date: 18 March 2013Source: Scopus},
	month = {2007///},
	pages = {1837 - 1840},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-34249008076\&partnerID=40\&md5=9f42412553eb3cbcf47eb6117be00b4a},
	author = {Stevanin, G. and Paternotte, C. and Coutinho, P. and Klebe, S. and Elleuch, N. and Loureiro, J.L. and Denis, E. and Cruz, V.T. and D{\"u}rr, A. and Prud{\textquoteright}homme, J.-F. and Weissenbach, J. and Brice, A. and Hazan, J.}
}
@article {4068,
	title = {Cerebellar ataxia with spasmodic cough: A new form of dominant ataxia},
	journal = {Archives of Neurology},
	volume = {63},
	year = {2006},
	note = {Cited By (since 1996): 3Export Date: 18 March 2013Source: Scopus},
	month = {2006///},
	pages = {553 - 555},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-33645739135\&partnerID=40\&md5=ec27dd0408d7763d260d525bf110b6a4},
	author = {Coutinho, P. and Cruz, V.T. and Tuna, A. and Silva, S.E. and Guimar{\~a}es, J.}
}
@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 {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 {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 {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},
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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},
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	pages = {225 - 227},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-10744230604\&partnerID=40\&md5=64b192c75088c46e272c6374443c6f79},
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}
