Oswaldo Lorenzo-Betancor

Oswaldo Lorenzo-Betancor

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Oswaldo Lorenzo-Betancor

Oswaldo Lorenzo-Betancor

Publications by authors named "Oswaldo Lorenzo-Betancor"

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

Parkinsonism Relat Disord 2019 06 4;63:204-208. Epub 2019 Feb 4.

Veterans Affairs Puget Sound Health Care System, Seattle, WA, USA; Department of Neurology, University of Washington School of Medicine, Seattle, WA, USA; Lerner Research Institute, Genomic Medicine, Cleveland Clinic Foundation, Cleveland, OH, USA. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.01.030DOI Listing
June 2019

point mutations and familial intracranial aneurysms.

Neurology 2018 12 9;91(23):e2170-e2181. Epub 2018 Nov 9.

From the Department of Neuroscience (O.L.-B., C.L., K.H., P.G., A.I.S., R.L.W., O.A.R.), Center for Individualized Medicine (P.R.B., J.M.), Department of Health Sciences Research (P.R.B., Y.A.), Department of Neurology (E.E., R.V.-d-C., W.D.F., J.M.), Clinical Research Internship Study Program (P.G.), Department of Neurosurgery (D.M., W.D.F.), and Department of Clinical Genomics (O.A.R.), Mayo Clinic, Jacksonville, FL; Center for Individualized Medicine (E.W.K.), Department of Health Sciences Research (E.W.K.), Department of Laboratory Medicine and Pathology (E.W.K.), Department of Clinical Genomics (E.W.K.), and Department of Biochemistry and Molecular Biology (A.N.S., K.J.C.), Mayo Clinic, Rochester, MN; Department of Biology (K.H., O.A.R.), Basic Research Internship in Neuroscience and Cancer, University of North Florida, Jacksonville; Program in Molecular Medicine (S.D.), University of Massachusetts Medical School, Worcester; Division of Genetics (M.B.B.), Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE; and Section of Clinical Genetics & Genetic Counseling (S.J.), St. Christopher's Hospital for Children, Philadelphia, PA.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282233PMC
December 2018

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

Neurobiol Aging 2018 10 14;70:325.e1-325.e5. Epub 2018 May 14.

Fundació per la Recerca Biomèdica i Social Mútua Terrassa, Terrassa, Barcelona, Spain; Movement Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Terrassa, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, CIBERNED, Instituto de Salud Carlos III, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.05.008DOI Listing
October 2018

Association study between multiple system atrophy and TREM2 p.R47H.

Neurol Genet 2018 Aug 1;4(4):e257. Epub 2018 Aug 1.

Department of Neuroscience (K.O., S.K., Y.A.M, C.L., O.L.-B., R.L.W., A.I.S., S.F., S.G.Y., G.B., D.W.D., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Neurology (K.O.), Juntendo University Shizuoka Hospital, Izunokunishi, Shizuoka, Japan; Division of Biomedical Statistics and Informatics (M.G.H., E.R.V), Mayo Clinic, Jacksonville, FL; Department of Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Neurology (P.A.L., W.S.), Mayo Clinic, Rochester, MN; Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL; and Department of Clinical Genomics (O.A.R.), Jacksonville, FL.

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http://dx.doi.org/10.1212/NXG.0000000000000257DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089688PMC
August 2018

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

Neurobiol Aging 2018 06 11;66:177.e7-177.e10. Epub 2018 Jan 11.

Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra (CIMA), Pamplona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, CIBERNED, Instituto de Salud Carlos III, Madrid, Spain; Movement Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, and Fundació per la Recerca Biomèdica i Social Mútua Terrassa, Terrassa, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.12.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6769418PMC
June 2018

Epigenetic regulation in Parkinson's disease.

Acta Neuropathol 2016 10 29;132(4):515-30. Epub 2016 Jun 29.

Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.

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http://dx.doi.org/10.1007/s00401-016-1590-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5026906PMC
October 2016

TREM2 p.R47H substitution is not associated with dementia with Lewy bodies.

Neurol Genet 2016 Aug 14;2(4):e85. Epub 2016 Jul 14.

Department of Neuroscience (R.L.W., A.I.S.-O., M.E.M., O.L.-B., K.O., S.R., R.R., N.E.-T., D.W.D., O.A.R., C.L.), Division of Biomedical Statistics and Informatics (M.G.H.), Department of Neurology (N.E.-T., R.J.U., J.A.v.G., Z.K.W., N.R.G.-R.), Department of Psychiatry and Psychology (T.J.F., O.A.R.), Mayo Clinic, Jacksonville, FL; Department of Biology (A.I.S.-O., O.A.R.), University of North Florida, Jacksonville; Department of Psychiatry and Psychology (G.E.S.), Department of Radiology (K.K., V.J.L., D.T.J.), Department of Laboratory Medicine and Pathology (J.E.P., B.F.B.), Department of Neurology (J.E.P., D.T.J., R.S., J.G.-R., D.S.K., R.C.P.), Mayo Clinic, Rochester, MN; Department of Clinical and Health Psychology (G.E.S.), University of Florida, Gainesville; and Mayo Graduate School (T.J.F., O.A.R.), Neurobiology of Disease, Jacksonville, FL.

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http://dx.doi.org/10.1212/NXG.0000000000000085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4946771PMC
August 2016

Rare variants in MC1R/TUBB3 exon 1 are not associated with Parkinson's disease.

Ann Neurol 2016 Feb 19;79(2):331. Epub 2016 Jan 19.

Departments of Neuroscience, Mayo Clinic, Jacksonville, FL.

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http://dx.doi.org/10.1002/ana.24581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755887PMC
February 2016

Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders.

Neurology 2015 Dec 11;85(23):2016-25. Epub 2015 Nov 11.

From the Department of Neuroscience (K.O., S.K., F.C.F., M.A., C.L., O.L.-B., E.L.M.-L., A.I.S.-O., R.L.W., W.S., D.W.D., O.A.R.), the Division of Biomedical Statistics and Informatics (M.G.H.), and the Department of Neurology (A.J.S., R.J.U., N.R.G.-R., Z.K.W.), Mayo Clinic, Jacksonville, FL; the Department of Neurology (K.O., M.A., K.N., M.F., N.H.), Juntendo University School of Medicine, Tokyo, Japan; the Dublin Neurological Institute at the Mater Misericordiae University Hospital (A.M., T.L.), Conway, and Institute of Biomolecular & Biomedical Research, University College Dublin, Ireland; the Department of Neurology (J.S., G.O., M.R.), Medical University of Silesia, Katowice; the Department of Neurology (A.K.-W.), Jagiellonian University, Krakow; the Department of Neurodegenerative Disorders (M.B.), Medical Research Centre, Polish Academy of Sciences, Warsaw; the Department of Neurology (K.C.), Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland; the Departments of Clinical Sciences and Neurology (A.P.), Lund University; the Department of Neurology (A.P.), Skåne University Hospital, Sweden; the Research Institute for Diseases of Old Age, Graduate School of Medicine (M.F., N.H.), Juntendo University, Tokyo, Japan; the Departments of Pathology and Laboratory Medicine (J.E.P.) and Neurology (R.C.P., B.F.B.), Mayo Clinic, Rochester, MN; the School of Medicine and Medical Science (O.A.R.), University College Dublin, Ireland; and Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL.

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http://dx.doi.org/10.1212/WNL.0000000000002170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4676755PMC
December 2015

Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies.

Neurology 2015 Nov 2;85(19):1680-6. Epub 2015 Sep 2.

From the Departments of Neuroscience (C.L., K.O., O.L.-B., A.I.S.-O., R.L.W., S.R., M.E.M., P.J.M., R.R., N.E.-T., D.W.D., O.A.R.), Neurology (S.F., N.E.-T., N.R.G.-R., R.J.U., Z.K.W.), and Psychiatry and Psychology (T.J.F.), Division of Biomedical Statistics and Informatics (M.G.H.), and Mayo Graduate School (P.J.M., O.A.R.), Mayo Clinic, Jacksonville, FL; Dublin Neurological Institute at the Mater Misericordiae University Hospital (A.M., T.L.), Conway; Institute of Biomolecular & Biomedical Research (A.M., T.L.), University College Dublin, Ireland; Department of Clinical Sciences (A.P.), Lund University, and Department of Neurology, Skåne University Hospital, Sweden; Department of Neurology (J.S., G.O.), Medical University of Silesia, Katowice; Department of Neurology (M.R., A.K.-W.), Jagiellonian University, Krakow; Department of Neurodegenerative Disorders (M.B.), Medical Research Centre, Polish Academy of Sciences, Warsaw; Department of Neurology (K.C.), Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland; Lviv Regional Clinical Hospital (Y.S.), Ukraine; Department of Neurology and School of Medicine (I.R.), Central European Institute of Technology, Masaryk University, Brno, Czech Republic; Departments of Neurology (A.H., J.E.A., B.F.B., R.C.P.) and Pathology and Laboratory Medicine (J.E.P.), Mayo Clinic, Rochester, MN; Department of Neurology (D.M.M.), NorthShore University Health System, Evanston, IL; and Department of Neurology (C.H.A.), Mayo Clinic, Scottsdale, AZ.

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http://dx.doi.org/10.1212/WNL.0000000000001946DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4653108PMC
November 2015

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

Hum Mol Genet 2015 Oct 17;24(20):5677-86. Epub 2015 Jul 17.

Bioinformatics and Genomics Program, Centre for Genomic Regulation (CRG), Barcelona, Spain, Universitat Pompeu Fabra (UPF), Barcelona, Spain, Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain, CRG CIBER de Epidemiología y Salud Pública (CIBERESP), Barcelona, Catalonia 08003, Spain, Dexeus Women's Health, University Hospital Quiron-Dexeus, Barcelona, Catalonia 08028, Spain

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http://dx.doi.org/10.1093/hmg/ddv281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692992PMC
October 2015

Analysis of nuclear export sequence regions of FUS-Related RNA-binding proteins in essential tremor.

PLoS One 2014 6;9(11):e111989. Epub 2014 Nov 6.

Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America; Mayo Graduate School, Neurobiology of Disease, Mayo Clinic, Jacksonville, Florida, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0111989PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222957PMC
July 2015

Heme Oxygenase 1 and 2 Common Genetic Variants and Risk for Essential Tremor.

Medicine (Baltimore) 2015 Jun;94(24):e968

From the Department of Pharmacology (PA, JAGA, CM, EG-M), Universidad de Extremadura, Cáceres; Research Network on Adverse Reactions to Allergens and Drugs (PA, JAGA, CM, EG-M); Department of Medicine-Neurology (HA-N, FJJ-J), Hospital "Príncipe de Asturias," Universidad de Alcalá, Alcalá de Henares; Section of Neurology (HA-N, FJJ-J), Hospital Universitario del Sureste, Arganda del Rey; Service of Neurology (JB-L), Hospital Doce de Octubre, Department of Medicine, Universidad Complutense, Madrid; CIBERNED (JB-L, SO-C, OL-B, PP), Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III; Neurogenetics Laboratory (SO-C, OL-B, PP), Division of Neurosciences, Center for Applied Medical Research, Universidad de Navarra; Department of Neurology (SO-C, OL-B, PP), Clínica Universitaria de Navarra, University of Navarra School of Medicine, Pamplona; Department of Neurology (PP), Hospital Universitari Mutua de Terrassa, Terrassa, Barcelona; and Department of Neurology (TL-A), Hospital Universitario de Salamanca, Spain.

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http://dx.doi.org/10.1097/MD.0000000000000968DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4616553PMC
June 2015

TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study.

Parkinsonism Relat Disord 2015 Mar 24;21(3):306-9. Epub 2014 Dec 24.

Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra (CIMA), Pamplona, Spain; Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine, Pamplona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, CIBERNED, Instituto de Salud Carlos III, Madrid, Spain; Department of Neurology, Hospital Universitari Mutua de Terrassa, Terrassa, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2014.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4408541PMC
March 2015

An association study between Heme oxygenase-1 genetic variants and Parkinson's disease.

Front Cell Neurosci 2014 24;8:298. Epub 2014 Sep 24.

Department of Biochemistry, Molecular Biology, and Genetic, University of Extremadura Cáceres, Spain ; Redes Temáticas de Investigación Cooperativa en Salud (RIRAAF/RETICS), Instituto de Salud Carlos III Madrid, Spain.

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http://dx.doi.org/10.3389/fncel.2014.00298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173932PMC
October 2014

No association of the SLC1A2 rs3794087 allele with risk for essential tremor in the Spanish population.

Pharmacogenet Genomics 2013 Nov;23(11):587-90

Departments of aBiochemistry and Molecular Biology bPharmacology, University of Extremadura, Cáceres cDepartment of Pharmacology, University of Extremadura, Badajoz dSection of Neurology, University Hospital of Sureste eDepartment of Medicine-Neurology, Hospital "Príncipe de Asturias", University of Alcalá fService of Neurology, Hospital "Doce de Octubre", Department of Medicine, University Complutense gCenter for Biomedical Investigation, Net of Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid hNeurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, Universidad de Navarra iDepartment of Neurology, University Clinic of Navarra, University of Navarra School of Medicine, Pamplona jDepartment of Neurology, University Hospital of Salamanca, Salamanca, Spain.

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http://dx.doi.org/10.1097/FPC.0b013e328364db9dDOI Listing
November 2013

Age at onset in LRRK2-associated PD is modified by SNCA variants.

J Mol Neurosci 2012 Sep 6;48(1):245-7. Epub 2012 Jun 6.

Parkinson's Disease and Movement Disorders Unit, Neurology Service-Hospital Clínic, Institut de Neurociències and Department of Medicine, Universitat de Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.

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http://dx.doi.org/10.1007/s12031-012-9820-7DOI Listing
September 2012

A search for SNCA 3' UTR variants identified SNP rs356165 as a determinant of disease risk and onset age in Parkinson's disease.

J Mol Neurosci 2012 Jul 11;47(3):425-30. Epub 2011 Nov 11.

Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, 33006, Oviedo, Spain.

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http://dx.doi.org/10.1007/s12031-011-9669-1DOI Listing
July 2012

LINGO1 and risk for essential tremor: results of a meta-analysis of rs9652490 and rs11856808.

J Neurol Sci 2012 Jun 17;317(1-2):52-7. Epub 2012 Mar 17.

Section of Neurology, Hospital Universitario del Sureste, Arganda del Rey, Madrid, Spain.

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http://dx.doi.org/10.1016/j.jns.2012.02.030DOI Listing
June 2012

LINGO1 gene analysis in Parkinson's disease phenotypes.

Mov Disord 2011 Mar 4;26(4):722-7. Epub 2011 Jan 4.

Division of Neurosciences, Neurogenetics Laboratory, Center for Applied Medical Research, University of Navarra, Pamplona, Spain.

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http://dx.doi.org/10.1002/mds.23452DOI Listing
March 2011

PINK1-linked parkinsonism is associated with Lewy body pathology.

Brain 2010 Apr 30;133(Pt 4):1128-42. Epub 2010 Mar 30.

Neurogenetics Laboratory, Division of Neurosciences, Centre for Applied Medical Research (CIMA), University of Navarra, Pío XII 55, 31008-Pamplona, Spain.

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http://dx.doi.org/10.1093/brain/awq051DOI Listing
April 2010