JAVIER
RUIZ MARTÍNEZ
Instituto de Salud Carlos III
Madrid, EspañaPublications en collaboration avec des chercheurs de Instituto de Salud Carlos III (8)
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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Pathogenic LRRK2 regulates centrosome cohesion via Rab10/RILPL1-mediated CDK5RAP2 displacement
iScience, Vol. 25, Núm. 6
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Pseudoathetosis and Pseudodystonia in Sensory Ganglionopathy Due to Anti-Amphiphysin and Anti-Hu Antibodies: A Rare Presentation Underlying a Neoplastic Etiology
Movement Disorders Clinical Practice
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
2015
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GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment
Journal of Human Genetics, Vol. 60, Núm. 10, pp. 637-640
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