Javier
Ruiz Martínez
Javier Ruiz Martínez-rekin lankidetzan egindako argitalpenak (36)
2024
2023
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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
2022
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Defects of Nutrient Signaling and Autophagy in Neurodegeneration
Frontiers in Cell and Developmental Biology, Vol. 10
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Pathogenic LRRK2 regulates centrosome cohesion via Rab10/RILPL1-mediated CDK5RAP2 displacement
iScience, Vol. 25, Núm. 6
2020
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Metabolic alterations in plasma from patients with familial and idiopathic Parkinson's disease
Aging, Vol. 12, Núm. 17, pp. 16690-16708
2019
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The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight
Movement Disorders, Vol. 34, Núm. 12, pp. 1851-1863
2018
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Parkinson disease-associated mutations in LRRK2 cause centrosomal defects via Rab8a phosphorylation
Molecular Neurodegeneration, Vol. 13, Núm. 1
2017
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Progressive changes in non-coding RNA profile in leucocytes with age
Aging, Vol. 9, Núm. 4, pp. 1202-1218
2016
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DAT imaging and clinical biomarkers in relatives at genetic risk for LRRK2R1441G Parkinson's disease
Movement Disorders, Vol. 31, Núm. 3, pp. 335-343
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Genetic Mutation Analysis of Parkinson’s Disease Patients Using Multigene Next-Generation Sequencing Panels
Molecular Diagnosis and Therapy, Vol. 20, Núm. 5, pp. 481-491
2015
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Clinical correlations with lewy body pathology in LRRK2-related Parkinson disease
JAMA Neurology, Vol. 72, Núm. 1, pp. 100-105
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SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor
ASN neuro, Vol. 7, Núm. 4
2014
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Cognitive dysfunction in Parkinson's disease related to the R1441G mutation in LRRK2
Parkinsonism and Related Disorders, Vol. 20, Núm. 10, pp. 1097-1100
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Epitope mapping of antibodies to alpha-synuclein in LRRK2 mutation carriers, idiopathic parkinson disease patients, and healthy controls
Frontiers in Aging Neuroscience, Vol. 6, Núm. JUL
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Prevalence of cancer in Parkinson's disease related to R1441G and G2019S mutations in LRRK2
Movement Disorders, Vol. 29, Núm. 6, pp. 750-755
2013
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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, Vol. 91, Núm. 12, pp. 1399-1406
2012
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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, Vol. 131, Núm. 3, pp. 435-442
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α-Synuclein Levels in Blood Plasma from LRRK2 Mutation Carriers
PLoS ONE, Vol. 7, Núm. 12
2011
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Olfactory deficits and cardiac 123I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations
Movement Disorders, Vol. 26, Núm. 11, pp. 2026-2031
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Parkinsonismo inducido por sulpiride y veralipride: dos historias diferentes
Medicina Clinica