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Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

BMC neurology, 2010-10, Vol.10 (1), p.89-89, Article 89

2010

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Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2

Journal of the neurological sciences, 2010-04, Vol.291 (1), p.30-36

2010

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Validation of the CD6 and TNFRSF1A loci as risk factors for multiple sclerosis in Spain

Journal of neuroimmunology, 2010-06, Vol.223 (1), p.100-103

2010

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Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis

Journal of medical genetics, 2013-01, Vol.50 (1), p.25-33

2013

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Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

Human mutation, 2013-01, Vol.34 (1), p.79-82

2013

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Brachydactyly E: isolated or as a feature of a syndrome

Orphanet journal of rare diseases, 2013-09, Vol.8 (1), p.141-141, Article 141

2013

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Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

The lancet oncology, 2023-01, Vol.24 (1), p.91-106

2023

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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Scientific reports, 2021-01, Vol.11 (1), p.1526-1526, Article 1526

2021

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Optimized short digestion protocol for free fetal DNA detection using methylation-dependent markers

Laboratoriumsmedizin, 2017-08, Vol.41 (4), p.195-203

2017

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Fine mapping and functional analysis of the multiple sclerosis risk gene CD6

PloS one, 2013-04, Vol.8 (4), p.e62376-e62376

2013

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A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

BMC medical genetics, 2011-06, Vol.12 (1), p.86-86, Article 86

2011

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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Scientific reports, 2021-05, Vol.11 (1), p.10340-10340, Article 10340

2021

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RNAseq based transcriptomics study of SMCs from carotid atherosclerotic plaque: BMP2 and IDs proteins are crucial regulators of plaque stability

Scientific reports, 2017-06, Vol.7 (1), p.3470-12, Article 3470

2017

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Absence of COCH gene mutations in patients with superior semicircular canal dehiscence

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.251-253

2012

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Does arterial hypertension influence the onset of Huntington's disease?

PloS one, 2018-05, Vol.13 (5), p.e0197975-e0197975

2018

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Mutations in TrkA Causing Congenital Insensitivity to Pain with Anhidrosis (CIPA) Induce Misfolding, Aggregation, and Mutation-dependent Neurodegeneration by Dysfunction of the Autophagic Flux

The Journal of biological chemistry, 2016-10, Vol.291 (41), p.21363-21374

2016

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Recommendations for the predictive genetic test in Huntington's disease

Clinical genetics, 2013-03, Vol.83 (3), p.221-231

2013

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Non-endocrine hyperaldosteronism. When hormones are supporting players

Endocrinología, diabetes y nutrición., 2022-11, Vol.69 (9), p.763-766

2022

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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

Scientific reports, 2019-08, Vol.9 (1), p.11983-9, Article 11983

2019

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Effect of resveratrol on alcohol-induced mortality and liver lesions in mice

BMC gastroenterology, 2006-11, Vol.6 (1), p.35-35, Article 35

2006

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Exploring Genetic Factors Involved in Huntington Disease Age of Onset: E2F2 as a New Potential Modifier Gene

PloS one, 2015-07, Vol.10 (7), p.e0131573-e0131573

2015

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Síndrome de Holt Oram. Descripción de una familia afectada sin mutación del gen TBX5 ni manifestaciones en un probable transmisor

Revista española de cardiologia, 2011-12, Vol.64 (12), p.1225-1226

2011

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Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2

Validation of the CD6 and TNFRSF1A loci as risk factors for multiple sclerosis in Spain

Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis

Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

Brachydactyly E: isolated or as a feature of a syndrome

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

Optimized short digestion protocol for free fetal DNA detection using methylation-dependent markers

Fine mapping and functional analysis of the multiple sclerosis risk gene CD6

A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”

RNAseq based transcriptomics study of SMCs from carotid atherosclerotic plaque: BMP2 and IDs proteins are crucial regulators of plaque stability

Absence of COCH gene mutations in patients with superior semicircular canal dehiscence

Does arterial hypertension influence the onset of Huntington's disease?

Mutations in TrkA Causing Congenital Insensitivity to Pain with Anhidrosis (CIPA) Induce Misfolding, Aggregation, and Mutation-dependent Neurodegeneration by Dysfunction of the Autophagic Flux

Recommendations for the predictive genetic test in Huntington's disease

Non-endocrine hyperaldosteronism. When hormones are supporting players

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

Effect of resveratrol on alcohol-induced mortality and liver lesions in mice

Exploring Genetic Factors Involved in Huntington Disease Age of Onset: E2F2 as a New Potential Modifier Gene

Síndrome de Holt Oram. Descripción de una familia afectada sin mutación del gen TBX5 ni manifestaciones en un probable transmisor

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