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1

Association study of the serotoninergic system in migraine in the spanish population

R. Corominas, M.J. Sobrido, M. Ribasés, E. Cuenca-León, P. Blanco-Arias, B. Narberhaus, M. Roig, R. Leira, J. López-González, A. Macaya, B. Cormand

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2010

Language:

english

File:

PDF, 118 KB

english, 2010

2

Axonal neuropathy, long limbs and bumpy tongue: Think of MEN2B

Ramos-Leví, Ana M., Díaz-pÉrez, Ángel, Sobrido, María-JesÚs, PiÑeiro-Hermida, Sergio, Blanco-Arias, Patricia, Cabezas-Agrícola, JosÉ M., Pascual-Pascual, Samuel I., AraÚjo-Vilar, David

Journal:

Year:

2012

Language:

english

File:

PDF, 641 KB

english, 2012

3

The human-specific Yp11.2/Xq21.3 homology block encodes a potentially functional testis-specific TGIF-like retroposon

Patricia Blanco-Arias, Carole A. Sargent, Nabeel A. Affara

Journal:

Mammalian Genome

Year:

2002

Language:

english

File:

PDF, 411 KB

english, 2002

4

A comparative analysis of the pig, mouse, and humanPCDHXgenes

Patricia Blanco-Arias, CaroleA. Sargent, NabeelA. Affara

Journal:

Mammalian Genome

Year:

2004

Language:

english

File:

PDF, 609 KB

english, 2004

5

Protocadherin X (PCDHX) and Y (PCDHY) genes; multiple mRNA isoforms encoding variant signal peptides and cytoplasmic domains

Patricia Blanco-Arias, CaroleA. Sargent, NabeelA. Affara

Journal:

Mammalian Genome

Year:

2004

Language:

english

File:

PDF, 347 KB

english, 2004

6

Expression of blood group-related antigens in neoplastic uterine cervix

Cecilia Guzmán-Bistoni, Bene Pinillos, M. Carmen Blanco-Arias, Asmiria Arenas de Sotolongo, Julia Molina, Jorge García-Tamayo, Eduardo Blasco-Olaetxea

Journal:

Clinical and Translational Oncology

Year:

2008

Language:

english

File:

PDF, 373 KB

english, 2008

7

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

Garcia-Murias, M., Quintans, B., Arias, M., Seixas, A. I., Cacheiro, P., Tarrio, R., Pardo, J., Millan, M. J., Arias-Rivas, S., Blanco-Arias, P.

Journal:

Year:

2012

Language:

english

File:

PDF, 679 KB

english, 2012

8

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

Manuel Arias, Julio Pardo, Patricia Blanco-Arias, María-Jesús Sobrido, Susana Arias, Dolores Dapena, Ángel Carracedo, Lev G. Goldfarb, Carmen Navarro

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 247 KB

english, 2006

9

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

Saida Ortolano, Rosa Tarrío, Patricia Blanco-Arias, Susana Teijeira, Francisco Rodríguez-Trelles, María García-Murias, Valerie Delague, Nicolas Lévy, José M. Fernández, Beatriz Quintáns, Beatriz San M

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 1.17 MB

english, 2011

10

P3.23 Characterization of a new mutation in the GADP1 gene causing axonal autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

M. Guijarro, P. Blanco-Arias, J. Pardo, C. Concheiro-Álvarez, B. San Millán, J. Joglar-Santos, M. Arias-Gómez, C. Navarro Fernández-Balbuena, A. Carracedo Álvarez, M. Sobrido

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 59 KB

english, 2011

11

A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism

Blanco-Arias, P., Einholm, A. P., Mamsa, H., Concheiro, C., Gutierrez-de-Teran, H., Romero, J., Toustrup-Jensen, M. S., Carracedo, A., Jen, J. C., Vilsen, B., Sobrido, M.-J.

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 449 KB

english, 2009

12

Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11

Castro-Fernández, Cristina, Arias, Manuel, Blanco-Arias, Patricia, Santomé-Collazo, Luis, Amigo, Jorge, Carracedo, Ángel, Sobrido, Maria-Jesús

Journal:

Applied & Translational Genomics

Year:

2015

Language:

english

File:

PDF, 530 KB

english, 2015

13

Deep brain bilateral pallidal stimulation in chorea-acanthocytosis caused by a homozygous VPS13A mutation

Fernández-Pajarín, G., Sesar, A., Ares, B., Jiménez-Martín, I., Blanco-Arias, P., Corredera, E., Relova, J. L., Gelabert, M., Castro, A.

Journal:

European Journal of Neurology

Year:

2016

Language:

english

File:

PDF, 109 KB

english, 2016

14

Bilateral pallidal deep brain stimulation in myoclonus-dystonia: our experience in three cases and their follow-up

Fernández-Pajarín, G., Sesar, A., Relova, J. L., Ares, B., Jiménez-Martín, I., Blanco-Arias, P., Gelabert-González, M., Castro, A.

Journal:

Acta Neurochirurgica

Year:

2016

Language:

english

File:

PDF, 444 KB

english, 2016

15

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

García-Sobrino, Tania, Blanco-Arias, Patricia, Palau, Francesc, Espinós, Carmen, Ramirez, Laura, Estela, Anna, San Millán, Beatriz, Arias, Manuel, Sobrido, María-Jesús, Pardo, Julio

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 775 KB

english, 2017

16

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

Sivera, Rafael, Frasquet, Marina, Lupo, Vincenzo, García-Sobrino, Tania, Blanco-Arias, Patricia, Pardo, Julio, Fernández-Torrón, Roberto, de Munain, Adolfo López, Márquez-Infante, Celedonio, Villarrea

Journal:

Scientific Reports

Year:

2017

File:

PDF, 1.21 MB

2017

17

Non-compaction cardiomyopathy and early respiratory failure in an adult symptomatic female carrier of centronuclear myopathy caused by a MTM1 mutation

García-García, J., Fernández-García, M.A., Blanco-Arias, P., Díaz-Maroto-Cicuendez, M.I., Salmerón-Martínez, F., Hidalgo-Olivares, V.M., Olivé, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 951 KB

english, 2018