Browse by Author "Blanco Arias, Patricia"

Now showing items 1-8 of 8

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

2011- San Millan Tejado, Beatriz; Carracedo Álvarez, Ángel; Sobrido Gómez, María Jesús; Blanco Arias, Patricia; García Murias, María; [et al.]
Axonal neuropathy, long limbs and bumpy tongue: Think of MEN2B

2012- Sobrido Gómez, María Jesús; Blanco Arias, Patricia; Cabezas Agrícola, José Manuel; Araujo Vilar, David
'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization

2012- Carracedo Álvarez, Ángel; Sobrido Gómez, María Jesús; Blanco Arias, Patricia; García Murias, María; Quintans Castro, Beatriz; [et al.]
Diagnosis of Charcot Marie Tooth disease in patients with chronic inflammatory demyelinating polyneuropathy: Report of two cases

2012- Sobrido Gómez, María Jesús; Blanco Arias, Patricia; Pardo Fernández, Julio; Costa Arpín, Eva; García Sobrino, Tania; [et al.]
Estudio de un caso de hipoalbuminemia severa

2012- Vila Dorrio, María Belén; Diaz Ondina, Marta; Santos Quintairos, Carmen; Hernández Dominguez, Juan Luis; Dobarro Casado, José; [et al.]
First SCA36 patients in Europe: Clinical, physiological and imaging details of 10 families

2012- Carracedo Álvarez, Ángel; Sobrido Gómez, María Jesús; Blanco Arias, Patricia; Cacheiro Martínez, Pilar; García Murias, María; [et al.]
P3.23 Characterization of a new mutation in the GADP1 gene causing axonal autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

2011- Carracedo Álvarez, Ángel; Blanco Arias, Patricia; Arias Gómez, Manuel; Pardo Fernández, Julio; Guijarro del Amo, Mónica [et al.]
Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11

2015- Carracedo Álvarez, Ángel; Sobrido Gómez, María Jesús; Blanco Arias, Patricia; Arias Gómez, Manuel; Amigo Lechuga, Jorge; [et al.]