Concepedia

María García-Murias

MG

Statistics

Publications

7

Citations

588

H-Index

7

Active since

2008

Affiliations

Fundación Pública Galega de Medicina Xenómica(Current)

Servicio Gallego de Salud

Centre for Biomedical Network Research on Rare Diseases

Complejo Hospitalario Universitario de Santiago

Universidade de Santiago de Compostela

María García-Murias is an author at Fundación Pública Galega de Medicina Xenómica specializing in life sciences, neurogenetics, and neuroscience.

Publications per year

2008–2023

7

Publications

7

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

Annika Keller, Ana Westenberger, María Jesús Sobrido et al. · Nature Genetics · 2013 · 328 citations · Full text

Life Sciences, Genetics, Neuroscience +11

‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

María García-Murias, Beatriz Quintáns, Manuel Arias et al. · Brain · 2012 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36

Zachary T. McEachin, Tania F. Gendron, Nisha Raj et al. · Neuron · 2020 · 76 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +7

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

Saida Ortolano, Rosa Tarrı́o, Patricia Blanco et al. · Neuromuscular Disorders · 2011 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Genetic testing in focal segmental glomerulosclerosis: in whom and when?

A Tato, Noa Carrera, María García-Murias et al. · Clinical Kidney Journal · 2023 · 16 citations · Full text

Life Sciences, Genetics, Nephrology +10

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