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Oswaldo Lorenzo-Betancor

University of Navarra
Mayo Clinic

56

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1502

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Novel compound heterozygous FBXO7 mutations in a family with early onset Parkinson's disease

2020 Parkinsonism & Related Disorders
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RNF213 variation, a broader role in neurovascular disease in Caucasian and Japanese populations

2020 bioRxiv
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RNF213 variation, a broader role in neurovascular disease in caucasian and japanese populations

2020
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Data from: PCNT point mutations and familial intracranial aneurysms

2019
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The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru

2019 Parkinsonism & Related Disorders
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PCNT and familial intracranial aneurysms-Supplemental data

2019
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PCNT point mutations and familial intracranial aneurysms

2018 Neurology
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Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population

2018 Neurobiology of Aging
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Target-enriched sequencing of chromosome 17q21.31 in sporadic tauopathies reveals no candidate variants

2018 Neurobiology of Aging
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Age- and disease-dependent increase of the mitophagy marker phospho-ubiquitin in normal aging and Lewy body disease

2018 Autophagy
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