@article {6349,
	title = {A recessive ataxia diagnosis algorithm for the next generation sequencing era},
	journal = {Annals of Neurology},
	volume = {82},
	year = {2017},
	note = {Export Date: 19 March 2018},
	month = {2017},
	pages = {892 - 899},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85034584658\&doi=10.1002\%2fana.25084\&partnerID=40\&md5=270469524dd28bfd7f7641b23cc44c16},
	author = {Renaud, M. and Tranchant, C. and Martin, J.V.T. and Mochel, F. and Synofzik, M. and van de Warrenburg, B. and Pandolfo, M. and Koenig, M. and Kolb, S.A. and Anheim, M. and Alonso, I. and Azzedine, H. and Barbot, C. and Bereau, M. and Berkovic, S. and Bernard, G. and Bindoff, L.A. and Bompaire, F. and Bonneau, D. and Bonneau, P. and Boycott, K.M. and Bras, J. and Brais, B. and Brigatti, K.W. and Cameron, J. and Chamova, T. and Choquet, K. and Delague, V. and Denizeau, P. and Dotti, M.T. and El-Euch, G. and Elmalik, S.A. and Federico, A. and Fiskerstrand, T. and Gagnon, C. and Guerreiro, R. and Guissart, C. and Hassin-Baer, S. and Heimdal, K.R. and H{\'e}ron, B. and Isohanni, P. and Kalaydijeva, L. and Kawarai, T. and Koht, J.A. and Lai, S.-C. and Piana, R.L. and Lecocq, C. and Linnankivi, T. and L{\"o}nnqvist, T. and Lu, C.-S. and Maas, R. and Mahlaoui, N. and Mallaret, M. and Marelli, C. and Mariotti, C. and Mathieu, J. and M{\'e}neret, A. and Mignarri, A. and Monin, M.L. and Montaut, S. and Nanetti, L. and Nadjar, Y. and Poujois, A. and Salih, M.A. and Sousa, S. and Stanier, P. and Stoppa-Lyonnet, D. and Strauss, K. and Tallaksen, C. and Tarnopolsky, M. and Tinant, N. and Tournev, I. and Topaloglu, H. and Varhaug, K.N. and Woimant, F. and Wolf, N.I. and Yahalom, G. and Yoon, G. and Young, M.}
}
@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 {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 {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 {3577,
	title = {LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients},
	journal = {Clinical Genetics},
	volume = {74},
	year = {2008},
	note = {Cited By (since 1996): 9Export Date: 18 March 2013Source: Scopus},
	month = {2008///},
	pages = {502 - 512},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-56749104483\&partnerID=40\&md5=899cd1d17cace5ab35519345b1ef7913},
	author = {Oliveira, J. and Santos, R. and Soares-Silva, I. and Jorge, P. and Vieira, E. and Oliveira, M.E. and Moreira, A. and Coelho, T. and Ferreira, J.C. and Fonseca, M.J. and Barbosa, C. and Prats, I. and Ar{\'\i}ztegui, M.L. and Martins, M.L. and Moreno, T. and Heinimann, K. and Barbot, C. and Pascual-Pascual, S.I. and Cabral, A. and Fineza, I. and Santos, M. and Bronze-da-Rocha, E.}
}
@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 {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 {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.}
}
