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Matilla-Duenas, A., Corral-Juan, M., A. Seuma, R. - P., Vilas, D., et al. (2017). Rare neurodegenerative diseases: Clinical and genetic update. Advances in Experimental Medicine and Biology (Vol. 1031, pp. 443 - 496).
Journal Article
Conceiço Pereira, M., Loureiro, J. L., Pinto-Basto, J., Brando, E., et al. (2012). Alu elements mediate large SPG11 gene rearrangements: Further spatacsin mutations. Genetics in Medicine, 14(1), 143 - 151.
Almeida, T., Alonso, I., Martins, S., Ramos, E. M., et al. (2009). Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10). PLoS ONE, 4(2).
Spears, M. D., Melton, S., Mao, Q., Payne, D., et al. (2010). Ataxia and progressive encephalopathy in a 4-year-old girl. Laboratory Medicine, 41(1), 5 - 9.
Aquino, J., Ribeiro, V., Alonso, I., Ramos, F., & Vasconcelos, M. (2017). Ataxia telangiectasia-like disorder: A child with a novel variant in MRE11A gene. Revista de Neurologia, 65(3), 143 - 144.
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.
Lemos, C., Mendonça, D., Pereira-Monteiro, J., Barros, J., et al. (2010). BDNF and CGRP interaction: Implications in migraine susceptibility. Cephalalgia, 30(11), 1375 - 1382.
Ramos, E. M., Latourelle, J. C., Gillis, T., Mysore, J. S., et al. (2013). Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset. Neurogenetics, 14(3-4), 173 - 179.
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.
Ramos, E. M., Kovalenko, M., Guide, J. R., St. Claire, J., et al. (2015). Chromosome substitution strain assessment of a Huntington’s disease modifier locus. Mammalian Genome, 26(3-4), 119 - 130.
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.
Taipa, R., Pereira, C., Reis, I., Alonso, I., et al. (2016). DJ-1 linked parkinsonism (PARK7) is associated with Lewy body pathology. Brain, 139(6), 1680 - 1687.
Emmel, V. E., Alonso, I., Jardim, L. B., Saraiva-Pereira, M. L., & Sequeiros, J. (2011). Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?. Clinical Genetics, 79(1), 100 - 102.
Porto, G., Brissot, P., Swinkels, D. W., Zoller, H., et al. (2016). EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). European Journal of Human Genetics, 24(4), 479 - 495.
Lemos, C., Pereira-Monteiro, J., Mendonça, D., Ramos, E. M., et al. (2010). Evidence of syntaxin 1A involvement in migraine susceptibility: A Portuguese study. Archives of Neurology, 67(4), 422 - 427.
Santos, D., Coelho, T., Alves-Ferreira, M., Sequeiros, J., et al. (2017). Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset. Annals of Clinical and Translational Neurology, 4(2), 98 - 105.
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.
Neto, J. L., Lee, J. - M., Afridi, A., Gillis, T., et al. (2017). Genetic contributors to intergenerational CAG repeat instability in Huntington’s disease knock-in mice. Genetics, 205(2), 503 - 516.
Ramos, E. M., Gillis, T., Mysore, J. S., Lee, J. - M., et al. (2015). Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 168(2), 135 - 143.
Quintas, M., Neto, J. L., Pereira-Monteiro, J., Barros, J., et al. (2013). Interaction between γ-Aminobutyric Acid A Receptor Genes: New Evidence in Migraine Susceptibility. PLoS ONE, 8(9).
Ramos, E. M., Cerqueira, J., Lemos, C., Pinto-Basto, J., et al. (2012). Intergenerational instability in Huntington disease: Extreme repeat changes among 134 transmissions. Movement Disorders, 27(4), 583 - 585.
Sequeiros, J., Ramos, E. M., Cerqueira, J., Costa, M. C., et al. (2010). Large normal and reduced penetrance alleles in Huntington disease: Instability in families and frequency at the laboratory, at the clinic and in the population. Clinical Genetics, 78(4), 381 - 387.
M. Pereira, daConceiçã, Morais, S., Sequeiros, J., & Alonso, I. (2016). Large-scale functional RNAi Screen in C. elegans identifies TGF-β and notch signaling pathways as modifiers of CACNAIA. ASN Neuro, 8(2).
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.
Alonso, I., Marques, J. M., Sousa, N., Sequeiros, J., et al. (2008). Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant. Neurobiology of Aging, 29(11), 1733 - 1743.


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