Sobrido MJ - Search Results

1

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain.

Arias M, Mir P, Fernández-Matarrubia M, Arpa J, García-Ramos R, Blanco-Arias P, Quintans B, Sobrido MJ. Arias M, et al. Among authors: sobrido mj. Neurologia (Engl Ed). 2022 May;37(4):257-262. doi: 10.1016/j.nrl.2019.01.004. Epub 2019 May 15. Neurologia (Engl Ed). 2022. PMID: 31103315 Free article. English, Spanish.

2

Spinocerebellar ataxia 36 (SCA36): «Costa da Morte ataxia».

Arias M, García-Murias M, Sobrido MJ. Arias M, et al. Among authors: sobrido mj. Neurologia. 2017 Jul-Aug;32(6):386-393. doi: 10.1016/j.nrl.2014.11.005. Epub 2015 Jan 13. Neurologia. 2017. PMID: 25593102 Free article. Review. English, Spanish.

3

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain.

Arias M, Mir P, Fernández-Matarrubia M, Arpa J, García-Ramos R, Blanco-Arias P, Quintans B, Sobrido MJ. Arias M, et al. Among authors: sobrido mj. Neurologia (Engl Ed). 2022 May;37(4):257-262. doi: 10.1016/j.nrleng.2019.01.014. Epub 2021 Apr 10. Neurologia (Engl Ed). 2022. PMID: 35595401 Free article.

4

Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36).

Martínez-Regueiro R, Arias M, Cruz R, Quintáns B, Labella-Caballero T, Pardo M, Pardo J, García-Murias M, Carracedo A, Sobrido MJ, Fernández-Prieto M. Martínez-Regueiro R, et al. Among authors: sobrido mj. Cerebellum. 2020 Aug;19(4):501-509. doi: 10.1007/s12311-020-01110-0. Cerebellum. 2020. PMID: 32270466

5

[Behavioral disorders in Parkinson's disease. Genetic, pharmacological and medico-legal aspects].

Sobrido MJ, Dias-Silva JJ, Quintáns B. Sobrido MJ, et al. Rev Neurol. 2009 Jan 23;48 Suppl 1:S43-8. Rev Neurol. 2009. PMID: 19222015 Free article. Review. Spanish.

6

Genetic counselling in neurology: a complex problem that requires regulation.

Quintáns B, Prieto MF, Carracedo A, Sobrido MJ. Quintáns B, et al. Among authors: sobrido mj. Neurologia. 2011 Apr;26(3):129-36. doi: 10.1016/j.nrl.2010.09.010. Epub 2010 Nov 11. Neurologia. 2011. PMID: 21163228 Free article. English, Spanish.

7

Medical genomics: The intricate path from genetic variant identification to clinical interpretation.

Quintáns B, Ordóñez-Ugalde A, Cacheiro P, Carracedo A, Sobrido MJ. Quintáns B, et al. Among authors: sobrido mj. Appl Transl Genom. 2014 Jun 16;3(3):60-7. doi: 10.1016/j.atg.2014.06.001. eCollection 2014 Sep 1. Appl Transl Genom. 2014. PMID: 27284505 Free PMC article. Review.

8

Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.

Cacheiro P, Ordóñez-Ugalde A, Quintáns B, Piñeiro-Hermida S, Amigo J, García-Murias M, Pascual-Pascual SI, Grandas F, Arpa J, Carracedo A, Sobrido MJ. Cacheiro P, et al. Among authors: sobrido mj. Mol Diagn Ther. 2017 Jun;21(3):303-313. doi: 10.1007/s40291-017-0268-x. Mol Diagn Ther. 2017. PMID: 28290094

9

Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing.

Quintáns B, Pardo J, Campos B, Barros F, Volpini V, Carracedo A, Sobrido MJ. Quintáns B, et al. Among authors: sobrido mj. Case Rep Neurol. 2011 Apr 11;3(1):86-90. doi: 10.1159/000327557. Case Rep Neurol. 2011. PMID: 21532985 Free PMC article.

10

Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.

Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo JR, Pardo J, Arias M, Ares-Luque A, Duarte J, Muñiz-Pérez S, Sobrido MJ. Pilo-de-la-Fuente B, et al. Among authors: sobrido mj. Eur J Neurol. 2011 Oct;18(10):1203-11. doi: 10.1111/j.1468-1331.2011.03439.x. Epub 2011 Jun 4. Eur J Neurol. 2011. PMID: 21645175 Review.

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