JAVIER
RUIZ MARTINEZ
PROFESORADO AGREGADO
Columbia University Medical Center
Nueva York, Estados UnidosPublicaciones en colaboración con investigadoras/es de Columbia University Medical Center (5)
2021
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R1441G but not G2019S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils
Acta Neuropathologica, Vol. 142, Núm. 3, pp. 475-494
2020
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Longitudinal Measurements of Glucocerebrosidase activity in Parkinson’s patients
Annals of Clinical and Translational Neurology, Vol. 7, Núm. 10, pp. 1816-1830
2017
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Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry
Movement Disorders, Vol. 32, Núm. 10, pp. 1432-1438
2016
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Motor and nonmotor heterogeneity of LRRK2-related and idiopathic Parkinson's disease
Movement Disorders, Vol. 31, Núm. 8, pp. 1192-1202
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