Patricia Blanco-Arias
Overview
Explore the profile of Patricia Blanco-Arias including associated specialties, affiliations and a list of published articles.
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Articles
13
Citations
151
Followers
0
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Recent Articles
1.
Blanco-Arias P, Medina Martinez I, Arrabal Fernandez L, Rivas Infante E, Salmeron Fernandez M, Gonzalez Hervas C, et al.
Neuromuscul Disord
. 2023 Jun;
33(7):557-561.
PMID: 37329680
X-linked myopathy with excessive autophagy is a rare inherited disease characterized by aberrant accumulation of autophagic vacuoles in skeletal muscle. Affected males usually show a slow progression and the heart...
2.
Larranaga-Moreira J, Blanco-Arias P, San Millan-Tejado B, Barge-Caballero G, Crespo-Leiro M, Barriales-Villa R
Rev Esp Cardiol (Engl Ed)
. 2021 Jun;
74(11):987-989.
PMID: 34120883
No abstract available.
3.
Sivera R, Frasquet M, Lupo V, Garcia-Sobrino T, Blanco-Arias P, Pardo J, et al.
Sci Rep
. 2017 Jul;
7(1):6677.
PMID: 28751717
Mutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease. These mutations are quite rare in most Western countries but not so in certain regions of Spain or other Mediterranean countries....
4.
Garcia-Sobrino T, Blanco-Arias P, Palau F, Espinos C, Ramirez L, Estela A, et al.
Neuromuscul Disord
. 2017 Feb;
27(7):667-672.
PMID: 28236508
There are few reports on axonal CMT due to dominant GDAP1 mutations. We describe two unrelated Spanish families with a dominant axonal CMT. A novel in frame GAA deletion in...
5.
Castro-Fernandez C, Arias M, Blanco-Arias P, Santome-Collazo L, Amigo J, Carracedo A, et al.
Appl Transl Genom
. 2016 Mar;
5:33-6.
PMID: 26937357
Next generation sequencing (NGS) is transforming the diagnostic approach for neurological disorders, since it allows simultaneous analysis of hundreds of genes, even based on just a broad, syndromic patient categorization....
6.
Ramos-Levi A, Diaz-Perez A, Sobrido M, Pineiro-Hermida S, Blanco-Arias P, Cabezas-Agricola J, et al.
Muscle Nerve
. 2012 Dec;
46(6):961-4.
PMID: 23225389
Introduction: Multiple endocrine neoplasia type 2 (MEN 2) is an uncommon autosomal dominant cancer syndrome which can be associated with nerve conduction abnormalities. Methods: A 14-year-old boy with a family...
7.
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...
8.
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...
9.
Blanco-Arias P, Einholm A, Mamsa H, Concheiro C, Gutierrez-de-Teran H, Romero J, et al.
Hum Mol Genet
. 2009 Apr;
18(13):2370-7.
PMID: 19351654
The Na(+)/K(+)-ATPases are ion pumps of fundamental importance in maintaining the electrochemical gradient essential for neuronal survival and function. Mutations in ATP1A3 encoding the alpha3 isoform cause rapid-onset dystonia-parkinsonism (RDP)....
10.
Arias M, Pardo J, Blanco-Arias P, Sobrido M, Arias S, Dapena D, et al.
Neuromuscul Disord
. 2006 Jun;
16(8):498-503.
PMID: 16806931
Desminopathies represent a subtype of myofibrillar myopathy caused by mutations in the DES gene, which cause myofibril disruption and intracellular inclusions containing desmin and other protein components. Desminopathy mainly involves...