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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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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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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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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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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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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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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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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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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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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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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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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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Replication study of 10 genes showing evidence for association with multiple sclerosis: validation of TMEM39A, IL12B and CLBL genes

Multiple sclerosis, 2012-07, Vol.18 (7), p.959-965

2012

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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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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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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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Hiperaldosteronismo no endocrino. Cuando las hormonas son actores secundarios

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

2022

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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

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

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

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

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

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

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

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

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

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

Brachydactyly E: isolated or as a feature of a syndrome

Non-endocrine hyperaldosteronism. When hormones are supporting players

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

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

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

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

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

Replication study of 10 genes showing evidence for association with multiple sclerosis: validation of TMEM39A, IL12B and CLBL genes

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

Recommendations for the predictive genetic test in Huntington's disease

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

Hiperaldosteronismo no endocrino. Cuando las hormonas son actores secundarios

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