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Journal Article
Moreira, M. - C., Klur, S., Watanabe, M., Németh, A. H., et al. (2004). Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nature Genetics, 36(3), 225 - 227.
Bento, V. F., Cruz, V. T., Ribeiro, D. D., Branco, C., & Coutinho, P. (2013). The potential of motion quantification systems in the automatic evaluation of motor function after stroke. International Journal of Stroke, 8(6), - .
Lima, M., Costa, M. C., Montiel, R., Ferro, A., et al. (2005). Population genetics of wild-type CAG repeats in the Machado-Joseph Disease gene in Portugal. Human Heredity, 60(3), 156 - 163.
Seixas, A. I., Loureiro, J. R., Costa, C., Ordóñez-Ugalde, A., et al. (2017). A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. American Journal of Human Genetics, 101(1), 87 - 103.
Bettencourt, C., Santos, C., Coutinho, P., Rizzu, P., et al. (2011). Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): A two-case report. BMC Neurology, 11.
Loureiro, J. L., Miller-Fleming, L., Thieleke-Matos, C., Magalhães, P., et al. (2009). Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families. Acta Neurologica Scandinavica, 119(2), 113 - 118.
Alonso, I., Barros, J., Tuna, A., Seixas, A., et al. (2004). 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]. Clinical Genetics, 65(1), 70 - 72.
Alonso, I., Costa, C., Gomes, A., Ferro, A., et al. (2005). A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14. Journal of Human Genetics, 50(10), 523 - 529.
Stevanin, G., Paternotte, C., Coutinho, P., Klebe, S., et al. (2007). A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21. Neurology, 68(21), 1837 - 1840.
MacIel, P., Cruz, V. T., Constante, M., Iniesta, I., et al. (2005). Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal involvement. Neurology, 65(4), 603 - 605.
Stevanin, G., Santorelli, F. M., Azzedine, H., Coutinho, P., et al. (2007). Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nature Genetics, 39(3), 366 - 372.
Bras, J., Alonso, I., Barbot, C., Costa, M. M., et al. (2015). Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. American Journal of Human Genetics, 96(3), 474 - 479.
Morais, S., Raymond, L., Mairey, M., Coutinho, P., et al. (2017). Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. European Journal of Human Genetics, 25(11), 1217 - 1228.
Esteves, T., Durr, A., Mundwiller, E., Loureiro, J. L., et al. (2014). Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. American Journal of Human Genetics, 94(2), 268 - 277.
Martins, S., Seixas, A. I., Magalhães, P., Coutinho, P., et al. (2005). Haplotype diversity and somatic instability in normal and expanded SCA8 alleles. American Journal of Medical Genetics - Neuropsychiatric Genetics, 139 B(1), 109 - 114.
Seixas, A. I., Vale, J., Jorge, P., Marques, I., et al. (2011). FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes. Behavioral and Brain Functions, 7.
Tedim Cruz, V., Araújo, I., Alves, I., Magano, A., & Coutinho, P. (2012). Freeze the stroke: Public awareness program for immediate detection of first symptoms. Stroke, 43(9), 2510 - 2512.
Costa, M. D. C., Teixeira-Castro, A., Constante, M., Magalhães, M., et al. (2006). 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 of Human Genetics, 51(8), 645 - 651.
Ramos, E. M., Martins, S., Alonso, I., Emmel, V. E., et al. (2010). Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2). American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 153(2), 524 - 531.
Martins, S., Coutinho, P., Silveira, I., Giunti, P., et al. (2008). Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 147(4), 439 - 446.
Coutinho, P., Cruz, V. T., Tuna, A., Silva, S. E., & Guimarães, J. (2006). Cerebellar ataxia with spasmodic cough: A new form of dominant ataxia. Archives of Neurology, 63(4), 553 - 555.
Barros, J., Damásio, J., Tuna, A., Alves, I., et al. (2013). Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large portuguese family. JAMA Neurology, 70(2), 235 - 240.
Loureiro, J. L., Brandão, E., Ruano, L., Brandão, A. F., et al. (2013). Autosomal dominant spastic paraplegias: A review of 89 families resulting from a Portuguese survey. JAMA Neurology, 70(4), 481 - 487.


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