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Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

Annals of neurology, 2019-06, Vol.85 (6), p.899-906

2019

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Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

Neuromuscular disorders : NMD, 2016-01, Vol.26 (1), p.33-40

2016

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Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

Neuromuscular disorders : NMD, 2011-08, Vol.21 (8), p.533-542

2011

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Proposed Recommendations for the Management of Depression in Adults with Epilepsy: An Expert Consensus

Neurology and therapy, 2023-04, Vol.12 (2), p.479-503

2023

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Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation

Neurology, 2016-09, Vol.87 (12), p.1250-1257

2016

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Autosomal Dominant Lateral Temporal Epilepsy: Clinical Spectrum, New Epitempin Mutations, and Genetic Heterogeneity in Seven European Families

Epilepsia (Copenhagen), 2003-10, Vol.44 (10), p.1289-1297

2003

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Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia

European journal of neurology, 2023-12, Vol.30 (12), p.3828-3833

2023

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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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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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Two cases of opercular myoclonic‐anarthric status epilepticus

Epileptic disorders, 2018-06, Vol.20 (3), p.189-194

2018

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Mutations in Progranulin Gene: Clinical, Pathological, and Ribonucleic Acid Expression Findings

Biological psychiatry (1969), 2008-05, Vol.63 (10), p.946-952

2008

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A comprehensive serum lipidome profiling of amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2020-04, Vol.21 (3-4), p.252-262

2020

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Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?

Muscle & nerve, 2011-11, Vol.44 (5), p.710-714

2011

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Management of epilepsy in the elderly

Neuropsychiatric disease and treatment, 2007-12, Vol.3 (6), p.723-728

Poza, Juan José

2007

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Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1 families

Prenatal diagnosis, 2007-01, Vol.27 (1), p.68-72

2007

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Relationship between sleep quality and cognitive performance in patients with epilepsy

Epilepsy & behavior, 2021-09, Vol.122, p.108127-108127, Article 108127

2021

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LACONORTE study: Efficacy and security of lacosamide as first add-on therapy for focal-onset epilepsy in real-life setting

Epilepsy research, 2018-09, Vol.145, p.51-54

2018

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Key steps and barriers in the journey of patients with epilepsy through the National Healthcare System in Spain: The EPIPASS qualitative study

Epilepsia open, 2024-07

2024

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Economic Burden of Contraception Management in Spain

Journal of health economics and outcomes research (Online), 2018, Vol.6 (1), p.63-74

2018

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Myopathy with hexagonally cross-linked crystalloid inclusions: Delineation of a clinico-pathological entity

Neuromuscular disorders : NMD, 2010-11, Vol.20 (11), p.701-708

2010

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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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Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1‐Related Syndrome

Movement disorders, 2024-07, Vol.39 (7), p.1246-1248

2024

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Trimetazidine Induces Parkinsonism, Gait Disorders and Tremor

Therapie, 2005-07, Vol.60 (4), p.419-422

2005

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Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

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

Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

Proposed Recommendations for the Management of Depression in Adults with Epilepsy: An Expert Consensus

Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation

Autosomal Dominant Lateral Temporal Epilepsy: Clinical Spectrum, New Epitempin Mutations, and Genetic Heterogeneity in Seven European Families

Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia

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

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

Two cases of opercular myoclonic‐anarthric status epilepticus

Mutations in Progranulin Gene: Clinical, Pathological, and Ribonucleic Acid Expression Findings

A comprehensive serum lipidome profiling of amyotrophic lateral sclerosis

Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?

Management of epilepsy in the elderly

Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1 families

Relationship between sleep quality and cognitive performance in patients with epilepsy

MONOZEB: Long-term observational study of eslicarbazepine acetate monotherapy

LACONORTE study: Efficacy and security of lacosamide as first add-on therapy for focal-onset epilepsy in real-life setting

Key steps and barriers in the journey of patients with epilepsy through the National Healthcare System in Spain: The EPIPASS qualitative study

Economic Burden of Contraception Management in Spain

Myopathy with hexagonally cross-linked crystalloid inclusions: Delineation of a clinico-pathological entity

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

Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1‐Related Syndrome

Trimetazidine Induces Parkinsonism, Gait Disorders and Tremor

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