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Author Title [ Type(Desc)] Year
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Journal Article
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.
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.
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.
Moreira, I., Bastos-Ferreira, R., Silva, J., Ribeiro, C., et al. (2015). Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism. Seizure, 25, 62 - 64.
Sousa, A. L., Alonso, I., & Magalhães, M. (2017). A Portuguese rapid-onset dystonia-parkinsonism case with atypical features. Neurological Sciences, 38(9), 1713 - 1714.
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.
Renaud, M., Tranchant, C., Martin, J. V. T., Mochel, F., et al. (2017). A recessive ataxia diagnosis algorithm for the next generation sequencing era. Annals of Neurology, 82(6), 892 - 899.
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.
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.
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.
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.
Gheno, T. C., Furtado, G. V., Saute, J. A. M., Donis, K. C., et al. (2017). Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil. European Journal of Neurology, 24(7), 892 - e36.
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.
Santos, D., Coelho, T., Alves-Ferreira, M., Sequeiros, J., et al. (2016). Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M). European Journal of Human Genetics, 24(5), 756 - 760.


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