Navegar por autor "Quintans Castro, Beatriz"

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

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

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

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.]

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

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

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

2013- García Estévez, Daniel Apolinar; Quintans Castro, Beatriz; Rodrígues de Lemos, Roberta

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

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

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.]

Neuropsychological assessment in SCA36: 'Costa da Morte' ataxia

2014- Pumar Cebreiro, José Manuel; Carracedo Álvarez, Ángel; Labella Caballero, Torcuato; Sobrido Gómez, María Jesús; Fernández Prieto, Montserrat; [et al.]

Neuropsychological assessment in SCA36: 'Costa da Morte' ataxia

2014- Pumar Cebreiro, José Manuel; Carracedo Álvarez, Ángel; Sobrido Gómez, María Jesús; Fernández Prieto, Montserrat; Pardo Pérez, María; [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.]

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

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

Successful treatment of hypokalemic periodic paralysis with topiramate

2012- Sobrido Gómez, María Jesús; Barros Angueira, Francisco; Quintans Castro, Beatriz; Pardo Fernández, Julio; López Ferreiro, Ana; [et al.]

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles

2014- Boone, P. M.; Yuan, B.; Campbell, I. M.; Scull, J. C.; Withers, M. A.; [et al.]

Validation study of genetic factors contributing to Parkinson's disease in Spanish and Latin American populations

2012- Cebrián Pérez, Ernesto Manuel; Castro Beiras, Alfonso; Carracedo Álvarez, Ángel; Sobrido Gómez, María Jesús; Cacheiro Martínez, Pilar; [et al.]

Repositorio digital RUNA

Navegar por autor "Quintans Castro, Beatriz"

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

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

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 ﻿

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

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification ﻿

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

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. ﻿

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 ﻿

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

Successful treatment of hypokalemic periodic paralysis with topiramate ﻿

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles ﻿

Validation study of genetic factors contributing to Parkinson's disease in Spanish and Latin American populations ﻿

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

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

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

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

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

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

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.

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

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

Successful treatment of hypokalemic periodic paralysis with topiramate

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles

Validation study of genetic factors contributing to Parkinson's disease in Spanish and Latin American populations