Navegar por autor "Sobrido Gómez, María Jesús"

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

2014- Sobrido Gómez, María Jesús

Lysosomal storage disease with differentail characteristics: GM1 gangliosidosis type II

2014- Sobrido Gómez, María Jesús; Blanco Barca, Manuel Oscar; Amado Puentes, Alfonso

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

2012- Sobrido Gómez, María Jesús; Quintans Castro, Beatriz

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

2013- Carracedo Álvarez, Ángel; Sobrido Gómez, María Jesús; García Murias, María; Prieto González, José María; Ordoñez Ugalde, Andrés [et al.]

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

2012- Sobrido Gómez, María Jesús; Castro Gago, Manuel

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

2015- Legati, A.; Giovannini, D.; Nicolas, G.; López-Sánchez, U.; Quintans Castro, Beatriz; [et al.]

Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing.

2011- Carracedo Álvarez, Ángel; Sobrido Gómez, María Jesús; Barros Angueira, Francisco; Campos Balea, Begoña; Quintans Castro, Beatriz; [et al.]

No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population

2015- Fachal Vilar, Laura; Vega Gliemmo, Ana; Sobrido Gómez, María Jesús; Quintans Castro, Beatriz; Camiña Tato, Montserrat; [et al.]

Prevalence of essential tremor on Arosa Island, Spain: A community-based, door-to-door survey

2013- Sobrido Gómez, María Jesús; Seijo Martínez, Manuel; Castro Del Río, María; Rodríguez Álvarez, José Ramón; Suárez Prado, Ramón; [et al.]

Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis

2012- Sobrido Gómez, María Jesús

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

2019- Sobrido Gómez, María Jesús; Bauer, P.; de Koning, T.; Klopstock, T.; Nadjar, Y.; [et al.]

Relationship between Intracellular Na+ Concentration and Reduced Na+ Affinity in Na+,K+-ATPase Mutants Causing Neurological Disease

2014- Toustrup-Jensen, MS; Einholm, AP; Schack, VR; Nielsen, HN; Holm, R; [et al.]

Restless legs syndrome in non-dialysis renal patients: Is it really that common?

2015- Sobrido Gómez, María Jesús

Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

2012- Sobrido Gómez, María Jesús; Quintans Castro, Beatriz; Yáñez Torregosa , Zuleima Isabel

Screening of cacna1a and ATP1A2 genes in hemiplegic migraine: clinical, genetic and functional studies

2013- Llaneza González, Miguel Ángel; Sobrido Gómez, María Jesús

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies

2013- Llaneza González, Miguel Ángel; Sobrido Gómez, María Jesús

SNOMED CT module-driven clinical archetype management

2013- Sobrido Gómez, María Jesús

Repositorio digital RUNA

Navegar por autor "Sobrido Gómez, María Jesús"

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

Lysosomal storage disease with differentail characteristics: GM1 gangliosidosis type II ﻿

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis ﻿

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice ﻿

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration ﻿

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export ﻿

Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing. ﻿

Neurophysiological study in cerebrotendinous xanthomatosis. ﻿

Neuropsychological assessment in SCA36: 'Costa da Morte' ataxia ﻿

Neuropsychological assessment in SCA36: 'Costa da Morte' ataxia ﻿

No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population ﻿

Prevalence of essential tremor on Arosa Island, Spain: A community-based, door-to-door survey ﻿

Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis ﻿

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C? ﻿

Relationship between Intracellular Na+ Concentration and Reduced Na+ Affinity in Na+,K+-ATPase Mutants Causing Neurological Disease ﻿

Restless legs syndrome in non-dialysis renal patients: Is it really that common? ﻿

Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias ﻿

Screening of cacna1a and ATP1A2 genes in hemiplegic migraine: clinical, genetic and functional studies ﻿

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies ﻿

SNOMED CT module-driven clinical archetype management ﻿

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

Lysosomal storage disease with differentail characteristics: GM1 gangliosidosis type II

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing.

Neurophysiological study in cerebrotendinous xanthomatosis.

Neuropsychological assessment in SCA36: 'Costa da Morte' ataxia

Neuropsychological assessment in SCA36: 'Costa da Morte' ataxia

No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population

Prevalence of essential tremor on Arosa Island, Spain: A community-based, door-to-door survey

Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

Relationship between Intracellular Na+ Concentration and Reduced Na+ Affinity in Na+,K+-ATPase Mutants Causing Neurological Disease

Restless legs syndrome in non-dialysis renal patients: Is it really that common?

Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

Screening of cacna1a and ATP1A2 genes in hemiplegic migraine: clinical, genetic and functional studies

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies

SNOMED CT module-driven clinical archetype management