ADOLFO JOSE
LOPEZ DE MUNAIN ARREGUI
IRAKASLE ELKARTUA
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Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaCentro de Investigación Biomédica en Red sobre Enfermedades Raras -ko ikertzaileekin lankidetzan egindako argitalpenak (22)
2024
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Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis (Journal of Neurology, (2023), 270, 12, (5849-5865), 10.1007/s00415-023-11862-4)
Journal of Neurology
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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
Neuromuscular Disorders, Vol. 34, pp. 1-8
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Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome
Movement Disorders
2023
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Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
Journal of Neurology, Vol. 270, Núm. 12, pp. 5849-5865
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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Genome medicine, Vol. 15, Núm. 1, pp. 68
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Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973
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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, Vol. 30, Núm. 12, pp. 3828-3833
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Spastic Paraplegia Type 7 (SPG7)
Essentials of Cerebellum and Cerebellar Disorders: A Primer For Graduate Students, Second Edition (Springer International Publishing), pp. 691-695
2022
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Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
Journal of Neurology, Neurosurgery and Psychiatry, Vol. 93, Núm. 10, pp. 1099-1111
2020
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A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases
Annals of Clinical and Translational Neurology, Vol. 7, Núm. 1, pp. 105-111
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Genotype–phenotype correlations in recessive titinopathies
Genetics in Medicine, Vol. 22, Núm. 12, pp. 2029-2040
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Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study
European Journal of Neurology, Vol. 27, Núm. 8, pp. 1364-1373
2019
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FAHN/SPG35: A narrow phenotypic spectrum across disease classifications
Brain, Vol. 142, Núm. 6, pp. 1561-1572
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PDGF-BB serum levels are decreased in adult onset Pompe patients
Scientific Reports, Vol. 9, Núm. 1
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Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561
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Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”
Movement Disorders
2016
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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 and Neuroscience, Vol. 41, Núm. 4, pp. 225-239
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Targeting TDP-43 phosphorylation by Casein Kinase-1δ inhibitors: A novel strategy for the treatment of frontotemporal dementia
Molecular Neurodegeneration, Vol. 11, Núm. 1
2015
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Increasing progranulin levels and blockade of the ERK1/2 pathway: Upstream and downstream strategies for the treatment of progranulin deficient frontotemporal dementia
European Neuropsychopharmacology, Vol. 25, Núm. 3, pp. 386-403
2013
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Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide
Human Mutation, Vol. 34, Núm. 1, pp. 79-82