Export 44 results:
Author Title Type [ Year(Desc)]
Filters: Author is Alonso, I.  [Clear All Filters]
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.
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.

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