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Author Title Type [ Year(Asc)]
Filters: Author is Alonso, I.  [Clear All Filters]
2017
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.
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.
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.
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.
Sousa, A. L., Alonso, I., & Magalhães, M. (2017). A Portuguese rapid-onset dystonia-parkinsonism case with atypical features. Neurological Sciences, 38(9), 1713 - 1714.
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).
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.
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.
Alves-Ferreira, M., Coelho, T., Santos, D., Sequeiros, J., et al. (2017). A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal. Molecular Neurobiology.
2015
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.
Porto, G., Brissot, P., Swinkels, D. W., Zoller, H., et al. (2015). EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). European Journal of Human Genetics.
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.
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.
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.
Santos, D., Coelho, T., Alves-Ferreira, M., Sequeiros, J., et al. (2015). Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M). European Journal of Human Genetics.
2013
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.
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.
Castilhos, R., Souza, A., Furtado, G., Gheno, T., et al. (2013). Huntington disease and Huntington disease-like in a case series from Brazil. Clinical Genetics.
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).
Barros, J., Ruano, L., Domingos, J., Tuna, A., et al. (2013). The Prevalence of Familial Hemiplegic Migraine With Cerebellar Ataxia and Spinocerebellar Ataxia Type 6 in Portugal. Headache.

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