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Author Title Type [ Year(Asc)]
Filters: Author is Alonso, I.  [Clear All Filters]
2012
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.
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.
Ramos, E. M., Keagle, P., Gillis, T., Lowe, P., et al. (2012). Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients. Amyotrophic Lateral Sclerosis, 13(3), 265 - 269.
2011
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.
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.
Lemos, C., Neto, J. L., Pereira-Monteiro, J., Mendonça, D., et al. (2011). A role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients. European Journal of Neurology, 18(4), 649 - 655.
2010
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.
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., 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.
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.
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.
Gazulla, J., Benavente, I., López-Fraile, I. P., Tordesillas, C., et al. (2010). Sensory neuronopathy in ataxia with oculomotor apraxia type 2. Journal of the Neurological Sciences, 298(1-2), 118 - 120.
2009
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).
Marques, J. M., Alonso, I., Santos, C., Silveira, I., & Olsson, I. A. S. (2009). The spatial learning phenotype of heterozygous leaner mice is robust to systematic variation of the housing environment. Comparative Medicine, 59(2), 129 - 138.
2008
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.
2006
Alonso, I., Jardim, L. B., Artigalas, O., Saraiva-Pereira, M. L., et al. (2006). Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10. Neurology, 66(10), 1602 - 1604.
Trott, A., Jardim, L. B., Ludwig, H. T., Saute, J. A. M., et al. (2006). Spinocerebellar ataxias in 114 Brazilian families: Clinical and molecular findings [3]. Clinical Genetics, 70(2), 173 - 176.
2005
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.
2004
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.

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