Alonso I - Search Results

1

Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant.

Pereira S, Adrião M, Sampaio M, Basto MA, Rodrigues E, Vilarinho L, Teles EL, Alonso I, Leão M. Pereira S, et al. Among authors: alonso i. JIMD Rep. 2018;42:113-119. doi: 10.1007/8904_2018_89. Epub 2018 Feb 25. JIMD Rep. 2018. PMID: 29478218 Free PMC article.

2

Diagnostic yield of next-generation sequencing applied to neurological disorders.

Marques Matos C, Alonso I, Leão M. Marques Matos C, et al. Among authors: alonso i. J Clin Neurosci. 2019 Sep;67:14-18. doi: 10.1016/j.jocn.2019.06.041. Epub 2019 Jul 2. J Clin Neurosci. 2019. PMID: 31272831

3

Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism.

Santos-Silva R, Rosário M, Grangeia A, Costa C, Castro-Correia C, Alonso I, Leão M, Fontoura M. Santos-Silva R, et al. Among authors: alonso i. J Pediatr Endocrinol Metab. 2019 Nov 26;32(11):1265-1273. doi: 10.1515/jpem-2019-0047. J Pediatr Endocrinol Metab. 2019. PMID: 31430255

4

Parkin truncating variants result in a loss-of-function phenotype.

Santos M, Morais S, Pereira C, Sequeiros J, Alonso I. Santos M, et al. Among authors: alonso i. Sci Rep. 2019 Nov 6;9(1):16150. doi: 10.1038/s41598-019-52534-6. Sci Rep. 2019. PMID: 31695088 Free PMC article.

5

Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype.

Santos M, Damásio J, Kun-Rodrigues C, Barbot C, Sequeiros J, Brás J, Alonso I, Guerreiro R. Santos M, et al. Among authors: alonso i. J Clin Med. 2020 Apr 23;9(4):1212. doi: 10.3390/jcm9041212. J Clin Med. 2020. PMID: 32340215 Free PMC article.

6

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes.

Seixas AI, Vale J, Jorge P, Marques I, Santos R, Alonso I, Fortuna AM, Pinto-Basto J, Coutinho P, Margolis RL, Sequeiros J, Silveira I. Seixas AI, et al. Among authors: alonso i. Behav Brain Funct. 2011 Jun 3;7:19. doi: 10.1186/1744-9081-7-19. Behav Brain Funct. 2011. PMID: 21639881 Free PMC article.

7

A Portuguese rapid-onset dystonia-parkinsonism case with atypical features.

Sousa AL, Alonso I, Magalhães M. Sousa AL, et al. Among authors: alonso i. Neurol Sci. 2017 Sep;38(9):1713-1714. doi: 10.1007/s10072-017-2996-4. Epub 2017 May 12. Neurol Sci. 2017. PMID: 28500446 No abstract available.

8

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.

Ramos EM, Gillis T, Mysore JS, Lee JM, Gögele M, D'Elia Y, Pichler I, Sequeiros J, Pramstaller PP, Gusella JF, MacDonald ME, Alonso I. Ramos EM, et al. Among authors: alonso i. Am J Med Genet B Neuropsychiatr Genet. 2015 Mar;168B(2):135-43. doi: 10.1002/ajmg.b.32289. Epub 2015 Feb 5. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 25656686 Free PMC article.

9

Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants - A diagnostic challenge.

Salgado P, Carvalho R, Brandão AF, Jorge P, Ramos C, Dias D, Alonso I, Magalhães M. Salgado P, et al. Among authors: alonso i. eNeurologicalSci. 2018 Nov 22;14:9-12. doi: 10.1016/j.ensci.2018.11.022. eCollection 2019 Mar. eNeurologicalSci. 2018. PMID: 30555943 Free PMC article.

10

Clinical spectrum of C9orf72 expansion in a cohort of Huntington's disease phenocopies.

Martins J, Damásio J, Mendes A, Vila-Chã N, Alves JE, Ramos C, Cavaco S, Silva J, Alonso I, Magalhães M. Martins J, et al. Among authors: alonso i. Neurol Sci. 2018 Apr;39(4):741-744. doi: 10.1007/s10072-018-3268-7. Epub 2018 Feb 13. Neurol Sci. 2018. PMID: 29441485

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