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LRRK2 delays degradative receptor trafficking by impeding late endosomal budding through decreasing Rab7 activity

Human molecular genetics, 2014-12, Vol.23 (25), p.6779-6796

2014

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Genealogy of the neurodegenerative diseases based on a meta-analysis of age-stratified incidence data

Scientific reports, 2020-11, Vol.10 (1), p.18923-18923, Article 18923

2020

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Progranulin deficiency induces overactivation of WNT5A expression via TNF-α/NF-κB pathway in peripheral cells from frontotemporal dementia-linked granulin mutation carriers

Journal of psychiatry & neuroscience, 2016-07, Vol.41 (4), p.225-239

2016

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Circulating microparticles reflect treatment effects and clinical status in multiple sclerosis

Biomarkers in medicine, 2014-06, Vol.8 (5), p.653-661

2014

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Association between total, processed, red and white meat consumption and all-cause, CVD and IHD mortality: a meta-analysis of cohort studies

British journal of nutrition, 2014-09, Vol.112 (5), p.762-775

2014

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ALS: A bucket of genes, environment, metabolism and unknown ingredients

Progress in neurobiology, 2016-07, Vol.142, p.104-129

2016

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Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

Nature communications, 2016-04, Vol.7 (1), p.11067-11067, Article 11067

2016

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Neuropathology of Parkinson's disease with the R1441G mutation in LRRK2

Movement disorders, 2009-10, Vol.24 (13), p.1998-2001

2009

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Assessing the role of TUBA4A gene in frontotemporal degeneration

Neurobiology of aging, 2016-02, Vol.38, p.215.e13-215.e14

2016

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Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy

Brain (London, England : 1878), 2019-09, Vol.142 (9), p.2605-2616

2019

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Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia

Human genetics, 2012-03, Vol.131 (3), p.435-442

2012

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Epigenetic Changes in the Methylation Patterns of KCNQ1 and WT1 after a Weight Loss Intervention Program in Obese Stroke Patients

Current neurovascular research, 2015-09, Vol.12 (4), p.321

2015

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Genetic Mutation Analysis of Parkinson’s Disease Patients Using Multigene Next-Generation Sequencing Panels

Molecular diagnosis & therapy, 2016-10, Vol.20 (5), p.481-491

2016

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Genetic and epigenetic modifications of Sox2 contribute to the invasive phenotype of malignant gliomas

PloS one, 2011-11, Vol.6 (11), p.e26740

2011

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Oncogenicity of the Developmental Transcription Factor Sox9

Cancer research (Chicago, Ill.), 2012-03, Vol.72 (5), p.1301-1315

2012

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Neurogenetic Disorders in the Basque Population

Annals of human genetics, 2015-01, Vol.79 (1), p.57-75

2015

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Differential micro RNA expression in PBMC from multiple sclerosis patients

PloS one, 2009-07, Vol.4 (7), p.e6309-e6309

2009

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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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Targeting Myotonic Dystrophy Type 1 with Metformin

International journal of molecular sciences, 2022-03, Vol.23 (5), p.2901

2022

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Targeting TDP-43 phosphorylation by Casein Kinase-1δ inhibitors: a novel strategy for the treatment of frontotemporal dementia

Molecular neurodegeneration, 2016-04, Vol.11 (1), p.36-36, Article 36

2016

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Metabolic alterations in plasma from patients with familial and idiopathic Parkinson's disease

Aging (Albany, NY.), 2020-09, Vol.12 (17), p.16690-16708

2020

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The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism

Journal of molecular medicine (Berlin, Germany), 2013-12, Vol.91 (12), p.1399-1406

2013

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Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations

International journal of molecular sciences, 2019-09, Vol.20 (18), p.4548

2019

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LRRK2 delays degradative receptor trafficking by impeding late endosomal budding through decreasing Rab7 activity

Genealogy of the neurodegenerative diseases based on a meta-analysis of age-stratified incidence data

Progranulin deficiency induces overactivation of WNT5A expression via TNF-α/NF-κB pathway in peripheral cells from frontotemporal dementia-linked granulin mutation carriers

Circulating microparticles reflect treatment effects and clinical status in multiple sclerosis

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

Association between total, processed, red and white meat consumption and all-cause, CVD and IHD mortality: a meta-analysis of cohort studies

ALS: A bucket of genes, environment, metabolism and unknown ingredients

Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

Neuropathology of Parkinson's disease with the R1441G mutation in LRRK2

Assessing the role of TUBA4A gene in frontotemporal degeneration

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy

Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia

Epigenetic Changes in the Methylation Patterns of KCNQ1 and WT1 after a Weight Loss Intervention Program in Obese Stroke Patients

Genetic Mutation Analysis of Parkinson’s Disease Patients Using Multigene Next-Generation Sequencing Panels

Genetic and epigenetic modifications of Sox2 contribute to the invasive phenotype of malignant gliomas

Oncogenicity of the Developmental Transcription Factor Sox9

Neurogenetic Disorders in the Basque Population

Differential micro RNA expression in PBMC from multiple sclerosis patients

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

Targeting Myotonic Dystrophy Type 1 with Metformin

Targeting TDP-43 phosphorylation by Casein Kinase-1δ inhibitors: a novel strategy for the treatment of frontotemporal dementia

Metabolic alterations in plasma from patients with familial and idiopathic Parkinson's disease

The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism

Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations

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