Arias M - Search Results

1

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: arias m. 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.

2

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

Arias M, García-Murias M, Sobrido MJ. Arias M, et al. 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

'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.

García-Murias M, Quintáns B, Arias M, Seixas AI, Cacheiro P, Tarrío R, Pardo J, Millán MJ, Arias-Rivas S, Blanco-Arias P, Dapena D, Moreira R, Rodríguez-Trelles F, Sequeiros J, Carracedo A, Silveira I, Sobrido MJ. García-Murias M, et al. Among authors: arias rivas s, arias m. Brain. 2012 May;135(Pt 5):1423-35. doi: 10.1093/brain/aws069. Epub 2012 Apr 3. Brain. 2012. PMID: 22492559 Free PMC article.

4

Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.

Arias M, Pardo J, Blanco-Arias P, Sobrido MJ, Arias S, Dapena D, Carracedo A, Goldfarb LG, Navarro C. Arias M, et al. Among authors: arias s. Neuromuscul Disord. 2006 Aug;16(8):498-503. doi: 10.1016/j.nmd.2006.05.011. Epub 2006 Jun 27. Neuromuscul Disord. 2006. PMID: 16806931

5

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. 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.

6

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. 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.

7

Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease.

García-Sobrino T, Blanco-Arias P, Palau F, Espinós C, Ramirez L, Estela A, San Millán B, Arias M, Sobrido MJ, Pardo J. García-Sobrino T, et al. Among authors: arias m. Neuromuscul Disord. 2017 Jul;27(7):667-672. doi: 10.1016/j.nmd.2017.01.008. Epub 2017 Jan 17. Neuromuscul Disord. 2017. PMID: 28236508

8

PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36.

Aguiar P, Pardo J, Arias M, Quintáns B, Fernández-Prieto M, Martínez-Regueiro R, Pumar JM, Silva-Rodríguez J, Ruibal Á, Sobrido MJ, Cortés J. Aguiar P, et al. Among authors: arias m. Mov Disord. 2017 Feb;32(2):264-273. doi: 10.1002/mds.26854. Epub 2016 Nov 10. Mov Disord. 2017. PMID: 27862279

9

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: arias m. Cerebellum. 2020 Aug;19(4):501-509. doi: 10.1007/s12311-020-01110-0. Cerebellum. 2020. PMID: 32270466

10

An ontology-aware integration of clinical models, terminologies and guidelines: an exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA).

Maarouf H, Taboada M, Rodriguez H, Arias M, Sesar Á, Sobrido MJ. Maarouf H, et al. Among authors: arias m. BMC Med Inform Decis Mak. 2017 Dec 6;17(1):159. doi: 10.1186/s12911-017-0568-4. BMC Med Inform Decis Mak. 2017. PMID: 29207981 Free PMC article.

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