Unidade de investigación
Servicio
David Geffen School of Medicine at UCLA
Los Ángeles, Estados UnidosPublicacións en colaboración con investigadores/as de David Geffen School of Medicine at UCLA (19)
2024
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Dispersal history of SARS-CoV-2 in Galicia, Spain
Journal of Medical Virology, Vol. 96, Núm. 7
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Minimal information for studies of extracellular vesicles (MISEV2023): From basic to advanced approaches
Journal of Extracellular Vesicles, Vol. 13, Núm. 2
2021
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
Autophagy, Vol. 17, Núm. 1, pp. 1-382
2020
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Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36
Neuron, Vol. 107, Núm. 2, pp. 292-305.e6
2017
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Prevalence of spinocerebellar ataxia 36 in a US population
Neurology: Genetics, Vol. 3, Núm. 4
2016
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Specific premature epigenetic aging of cartilage in osteoarthritis
Aging, Vol. 8, Núm. 9, pp. 2222-2231
2015
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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Nature Genetics, Vol. 47, Núm. 6, pp. 579-581
2013
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Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
Neurogenetics, Vol. 14, Núm. 1, pp. 11-22
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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
Nature Genetics, Vol. 45, Núm. 9, pp. 1077-1082
2012
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Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
Nature Genetics, Vol. 44, Núm. 6, pp. 704-708
2009
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A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism
Human Molecular Genetics, Vol. 18, Núm. 13, pp. 2370-2377
2007
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Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification ("Fahr's disease")
Journal of Molecular Neuroscience, Vol. 33, Núm. 2, pp. 151-154
2004
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Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)
Neurology, Vol. 63, Núm. 11, pp. 2165-2167
2003
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Novel tau polymorphisms, tau haplotypes, and splicing in familial and sporadic frontotemporal dementia
Archives of Neurology, Vol. 60, Núm. 5, pp. 698-702
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Possible association of the tau H1/H1 genotype with primary progressive aphasia
Neurology, Vol. 60, Núm. 5, pp. 862-864
2001
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SCA8 repeat expansions in ataxia: A controversial association
Neurology, Vol. 57, Núm. 7, pp. 1310-1312
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The SCA12 mutation as a rare cause of spinocerebellar ataxia
Archives of Neurology, Vol. 58, Núm. 11, pp. 1833-1835
2000
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Molecular genetics and inherited ataxias: Redefining phenotypes and pathogenesis
Neuroscientist, Vol. 6, Núm. 6, pp. 465-474
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The genetics of frontotemporal dementia and related disorders
Current Genomics, Vol. 1, Núm. 4, pp. 339-352