@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 {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 {2786,
	title = {Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia},
	journal = {American Journal of Human Genetics},
	volume = {92},
	year = {2013},
	note = {Export Date: 18 March 2013Source: Scopus},
	month = {2013///},
	pages = {238 - 244},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84873707921\&partnerID=40\&md5=a7c36595271f81fa0773d0c5d0689ca2},
	author = {Martin, E. and Sch{\"u}le, R. and Smets, K. and Rastetter, A. and Boukhris, A. and Loureiro, J.L. and Gonzalez, M. A. and Mundwiller, E. and Deconinck, T. and Wessner, M. and Jornea, L. and Oteyza, A. C. and Durr, A. and Martin, J. -J. and Sch{\"o}ls, L. and Mhiri, C. and Lamari, F. and Z{\"u}chner, S. and De Jonghe, P. and Kabashi, E. and Brice, A. and Stevanin, G.}
}
@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 {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 {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.}
}
