Export 44 results:
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.

Pages


Home | Site Map | Contacts | Credits | Privacy & Cookies | Intranet | Social Networks |


rua alfredo allen, 208, 4200-135 porto - portugal | tel +351 220 408 800 | email: info@ibmc.up.pt | © copyright 2010 ibmc