Browse by Author "Sobrido Gómez, María Jesús"

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.]

A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample

2012- Sobrido Gómez, María Jesús; Cacheiro Martínez, Pilar

Adrenomyeloneuropathy diagnosed in a young female with spastic paraparesis after full exome sequencing

2014- Sobrido Gómez, María Jesús; Quintans Castro, Beatriz; Pardo Fernández, Julio; Ordoñez Ugalde, Andrés

Applied and translational neurogenomics

2015- Sobrido Gómez, María Jesús

Asesoramiento genético en Neurología: un problema complejo que necesita regulación.

2011- Prieto Formoso , María; Carracedo Álvarez, Ángel; Sobrido Gómez, María Jesús; Quintans Castro, Beatriz

Automated semantic annotation of rare disease cases: a case study

2014- Taboada, M.; Rodríguez, H.; Martínez, D.; Pardo Pérez, María; Sobrido Gómez, María Jesús [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

Call for participation in the neurogenetics consortium within the Human Variome Project

2011- Sobrido Gómez, María Jesús; Amigo Lechuga, Jorge

Cerebrotendinous xanthomatosis in Spain: Clinical, prognostic, and genetic survey

2011- Sobrido Gómez, María Jesús; Arias Gómez, Manuel; Pardo Fernández, Julio

Clinical and neuroimaging features of familial C9FTD/ALS: A case report

2013- Cebrián Pérez, Ernesto Manuel; Sobrido Gómez, María Jesús; Quintans Castro, Beatriz; Pardo Fernández, Julio; Pardo Parrado, María; [et al.]

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

2015- Sobrido Gómez, María Jesús; Quintans Castro, Beatriz

'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.]

Databases for neurogenetics: Introduction, overview, and challenges

2012- Carracedo Álvarez, Ángel; Sobrido Gómez, María Jesús

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.]

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia

2014- Sobrido Gómez, María Jesús; Quintans Castro, Beatriz

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.]

Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo

2020- Todd, T. W.; McEachin, Z. T.; Chew, J.; Burch, A. R.; Jansen-West, K.; [et al.]

Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

2020- Correa-Vela, M.; Lupo, V.; Montpeyo, M.; Sancho, P.; Marce-Grau, A.; [et al.]

Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

2020- Correa-Vela, M; Lupo, V; Montpeyo, M; Sancho, P; Marce-Grau, A; [et al.]

Impairment of the cerebral cortex in patients with pure hereditary spastic paraplegia

2014- Sobrido Gómez, María Jesús

RUNA digital repository

Browse by Author "Sobrido Gómez, María Jesús"

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

A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample ﻿

Adrenomyeloneuropathy diagnosed in a young female with spastic paraparesis after full exome sequencing ﻿

Applied and translational neurogenomics ﻿

Asesoramiento genético en Neurología: un problema complejo que necesita regulación. ﻿

Automated semantic annotation of rare disease cases: a case study ﻿

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

Call for participation in the neurogenetics consortium within the Human Variome Project ﻿

Cerebrotendinous xanthomatosis in Spain: Clinical, prognostic, and genetic survey ﻿

Clinical and neuroimaging features of familial C9FTD/ALS: A case report ﻿

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1 ﻿

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

Databases for neurogenetics: Introduction, overview, and challenges ﻿

Diagnosis of Charcot Marie Tooth disease in patients with chronic inflammatory demyelinating polyneuropathy: Report of two cases ﻿

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia ﻿

First SCA36 patients in Europe: Clinical, physiological and imaging details of 10 families ﻿

Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo ﻿

Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect ﻿

Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect ﻿

Impairment of the cerebral cortex in patients with pure hereditary spastic paraplegia ﻿

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

A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample

Adrenomyeloneuropathy diagnosed in a young female with spastic paraparesis after full exome sequencing

Applied and translational neurogenomics

Asesoramiento genético en Neurología: un problema complejo que necesita regulación.

Automated semantic annotation of rare disease cases: a case study

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

Call for participation in the neurogenetics consortium within the Human Variome Project

Cerebrotendinous xanthomatosis in Spain: Clinical, prognostic, and genetic survey

Clinical and neuroimaging features of familial C9FTD/ALS: A case report

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

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

Databases for neurogenetics: Introduction, overview, and challenges

Diagnosis of Charcot Marie Tooth disease in patients with chronic inflammatory demyelinating polyneuropathy: Report of two cases

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia

First SCA36 patients in Europe: Clinical, physiological and imaging details of 10 families

Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo

Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

Impairment of the cerebral cortex in patients with pure hereditary spastic paraplegia