Maria Garcia-Murias
Overview
Explore the profile of Maria Garcia-Murias including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
6
Citations
259
Followers
0
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Recent Articles
1.
Tato A, Carrera N, Garcia-Murias M, Shabaka A, Avila A, Mora Mora M, et al.
Clin Kidney J
. 2023 Nov;
16(11):2011-2022.
PMID: 37915894
Background: Genetic causes are increasingly recognized in patients with focal segmental glomerulosclerosis (FSGS), but it remains unclear which patients should undergo genetic study. Our objective was to determine the frequency...
2.
Martinez-Pulleiro R, Garcia-Murias M, Fidalgo-Diaz M, Garcia-Gonzalez M
Int J Mol Sci
. 2021 Oct;
22(20).
PMID: 34681722
Alport syndrome is a genetic and hereditary disease, caused by mutations in the type IV collagen genes , and , that affects the glomerular basement membrane of the kidney. It...
3.
McEachin Z, Gendron T, Raj N, Garcia-Murias M, Banerjee A, Purcell R, et al.
Neuron
. 2020 May;
107(2):292-305.e6.
PMID: 32375063
GGGGCC hexanucleotide repeat expansions (HREs) in C9orf72 cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and lead to the production of aggregating dipeptide repeat proteins (DPRs) via repeat associated...
4.
Keller A, Westenberger A, Sobrido M, Garcia-Murias M, Domingo A, Sears R, et al.
Nat Genet
. 2013 Aug;
45(9):1077-82.
PMID: 23913003
Calcifications in the basal ganglia are a common incidental finding and are sometimes inherited as an autosomal dominant trait (idiopathic basal ganglia calcification (IBGC)). Recently, mutations in the PDGFRB gene...
5.
Garcia-Murias M, Quintans B, Arias M, Seixas A, Cacheiro P, Tarrio R, et al.
Brain
. 2012 Apr;
135(Pt 5):1423-35.
PMID: 22492559
Spinocerebellar ataxia 36 has been recently described in Japanese families as a new type of spinocerebellar ataxia with motor neuron signs. It is caused by a GGCCTG repeat expansion in...
6.
Ortolano S, Tarrio R, Blanco-Arias P, Teijeira S, Rodriguez-Trelles F, Garcia-Murias M, et al.
Neuromuscul Disord
. 2011 Feb;
21(4):254-62.
PMID: 21288719
This study aimed to identify the genetic defect in a multigenerational family presenting an autosomal dominant myopathy with histological features of congenital fiber type disproportion. Linkage analysis and genetic sequencing...