Patricia Arias-Blanco
A Coruna, GA, Spain
Last Updated: 09/26/2026
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Found 9 publications
Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant.
Journal: Neuromuscular disorders : NMD
Published: February 15, 2023
Dilated cardiomyopathy and mild limb girdle muscular dystrophy caused by the p.Gly424Ser genetic variant in the fukutin gene.
Journal: Revista espanola de cardiologia (English ed.)
Published: January 31, 2021
Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain.
Journal: Neurologia
Published: December 28, 2018
Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain.
Journal: Neurologia
Published: December 28, 2018
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
Journal: Scientific reports
Published: April 12, 2017
Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease.
Journal: Neuromuscular disorders : NMD
Published: July 17, 2016
Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.
Journal: Applied & translational genomics
Published: May 19, 2015
Axonal neuropathy, long limbs and bumpy tongue: think of MEN2B.
Journal: Muscle & nerve
Published: May 15, 2012
'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.
Journal: Brain : a journal of neurology
Published: April 12, 2012
Showing 1-9 of 9
Last Updated: 09/26/2026