Ryan J Uitti

Ryan J Uitti

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Ryan J Uitti

Ryan J Uitti

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A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.

Authors:
Sven J van der Lee Olivia J Conway Iris Jansen Minerva M Carrasquillo Luca Kleineidam Erik van den Akker Isabel Hernández Kristel R van Eijk Najada Stringa Jason A Chen Anna Zettergren Till F M Andlauer Monica Diez-Fairen Javier Simon-Sanchez Alberto Lleó Henrik Zetterberg Marianne Nygaard Cornelis Blauwendraat Jeanne E Savage Jonas Mengel-From Sonia Moreno-Grau Michael Wagner Juan Fortea Michael J Keogh Kaj Blennow Ingmar Skoog Manuel A Friese Olga Pletnikova Miren Zulaica Carmen Lage Itziar de Rojas Steffi Riedel-Heller Ignacio Illán-Gala Wei Wei Bernard Jeune Adelina Orellana Florian Then Bergh Xue Wang Marc Hulsman Nina Beker Niccolo Tesi Christopher M Morris Begoña Indakoetxea Lyduine E Collij Martin Scherer Estrella Morenas-Rodríguez James W Ironside Bart N M van Berckel Daniel Alcolea Heinz Wiendl Samantha L Strickland Pau Pastor Eloy Rodríguez Rodríguez Bradley F Boeve Ronald C Petersen Tanis J Ferman Jay A van Gerpen Marcel J T Reinders Ryan J Uitti Lluís Tárraga Wolfgang Maier Oriol Dols-Icardo Amit Kawalia Maria Carolina Dalmasso Mercè Boada Uwe K Zettl Natasja M van Schoor Marian Beekman Mariet Allen Eliezer Masliah Adolfo López de Munain Alexander Pantelyat Zbigniew K Wszolek Owen A Ross Dennis W Dickson Neill R Graff-Radford David Knopman Rosa Rademakers Afina W Lemstra Yolande A L Pijnenburg Philip Scheltens Thomas Gasser Patrick F Chinnery Bernhard Hemmer Martijn A Huisman Juan Troncoso Fermin Moreno Ellen A Nohr Thorkild I A Sørensen Peter Heutink Pascual Sánchez-Juan Danielle Posthuma Jordi Clarimón Kaare Christensen Nilüfer Ertekin-Taner Sonja W Scholz Alfredo Ramirez Agustín Ruiz Eline Slagboom Wiesje M van der Flier Henne Holstege

Acta Neuropathol 2019 Aug 27;138(2):237-250. Epub 2019 May 27.

Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00401-019-02026-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6660501PMC
August 2019

Clinicopathologic subtype of Alzheimer's disease presenting as corticobasal syndrome.

Alzheimers Dement 2019 Aug 6. Epub 2019 Aug 6.

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jalz.2019.04.011DOI Listing
August 2019

Neuropathologic basis of frontotemporal dementia in progressive supranuclear palsy.

Mov Disord 2019 Aug 21. Epub 2019 Aug 21.

Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.

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http://dx.doi.org/10.1002/mds.27816DOI Listing
August 2019

TRIO gene segregation in a family with cerebellar ataxia.

Neurol Neurochir Pol 2018 Nov - Dec;52(6):743-749. Epub 2018 Sep 22.

Department of Neurology, Mayo Clinic, Jacksonville, FL, United States. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00283843183023
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http://dx.doi.org/10.1016/j.pjnns.2018.09.006DOI Listing
June 2019

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.

Authors:
Cyril Pottier Yingxue Ren Ralph B Perkerson Matt Baker Gregory D Jenkins Marka van Blitterswijk Mariely DeJesus-Hernandez Jeroen G J van Rooij Melissa E Murray Elizabeth Christopher Shannon K McDonnell Zachary Fogarty Anthony Batzler Shulan Tian Cristina T Vicente Billie Matchett Anna M Karydas Ging-Yuek Robin Hsiung Harro Seelaar Merel O Mol Elizabeth C Finger Caroline Graff Linn Öijerstedt Manuela Neumann Peter Heutink Matthis Synofzik Carlo Wilke Johannes Prudlo Patrizia Rizzu Javier Simon-Sanchez Dieter Edbauer Sigrun Roeber Janine Diehl-Schmid Bret M Evers Andrew King M Marsel Mesulam Sandra Weintraub Changiz Geula Kevin F Bieniek Leonard Petrucelli Geoffrey L Ahern Eric M Reiman Bryan K Woodruff Richard J Caselli Edward D Huey Martin R Farlow Jordan Grafman Simon Mead Lea T Grinberg Salvatore Spina Murray Grossman David J Irwin Edward B Lee EunRan Suh Julie Snowden David Mann Nilufer Ertekin-Taner Ryan J Uitti Zbigniew K Wszolek Keith A Josephs Joseph E Parisi David S Knopman Ronald C Petersen John R Hodges Olivier Piguet Ethan G Geier Jennifer S Yokoyama Robert A Rissman Ekaterina Rogaeva Julia Keith Lorne Zinman Maria Carmela Tartaglia Nigel J Cairns Carlos Cruchaga Bernardino Ghetti Julia Kofler Oscar L Lopez Thomas G Beach Thomas Arzberger Jochen Herms Lawrence S Honig Jean Paul Vonsattel Glenda M Halliday John B Kwok Charles L White Marla Gearing Jonathan Glass Sara Rollinson Stuart Pickering-Brown Jonathan D Rohrer John Q Trojanowski Vivianna Van Deerlin Eileen H Bigio Claire Troakes Safa Al-Sarraj Yan Asmann Bruce L Miller Neill R Graff-Radford Bradley F Boeve William W Seeley Ian R A Mackenzie John C van Swieten Dennis W Dickson Joanna M Biernacka Rosa Rademakers

Acta Neuropathol 2019 Jun 9;137(6):879-899. Epub 2019 Feb 9.

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

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http://link.springer.com/10.1007/s00401-019-01962-9
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http://dx.doi.org/10.1007/s00401-019-01962-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533145PMC
June 2019

A curious case of DBS radiofrequency programmer interference.

NPJ Parkinsons Dis 2019 1;5. Epub 2019 Feb 1.

1Department of Neurological Surgery, Mayo Clinic, Jacksonville, FL USA.

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http://dx.doi.org/10.1038/s41531-019-0075-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6358610PMC
February 2019

ε4 is associated with severity of Lewy body pathology independent of Alzheimer pathology.

Neurology 2018 09 24;91(12):e1182-e1195. Epub 2018 Aug 24.

From the Department of Neuroscience (D.W.D., M.E.M., A.I.S., R.W., N.E.-T., G.B., O.A.R.), Division of Biomedical Statistics and Informatics (M.G.H., N.N.D.), and Departments of Neurology (J.A.v.G., R.J.U., Z.K.W., N.E.-T., N.R.G.-R.) and Psychiatry and Psychology (T.J.F.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (D.S.K., R.C.P., B.F.B.), Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1212/WNL.0000000000006212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6161556PMC
September 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

Palliative Care Use Among Patients With Solid Cancer Tumors: A National Cancer Data Base Study.

J Palliat Care 2018 Jul 29;33(3):149-158. Epub 2018 May 29.

6 Division of Hematology and Medical Oncology, Mayo Clinic, Jacksonville, FL, USA.

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http://dx.doi.org/10.1177/0825859718777320DOI Listing
July 2018

Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease.

Neurology 2018 07 13;91(3):e268-e279. Epub 2018 Jun 13.

From the Departments of Neuroscience (K.K., M.E.M., S.K., N.S., J.A.V.G., D.W.D.), Psychiatry and Psychology (T.J.F., A.P.), and Neurology (T.K., R.J.U., N.R.G.-R., Z.K.W.), Mayo Clinic, Jacksonville, FL; and Behavioral Neurology (K.A.J.), Department of Neurology, Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1212/WNL.0000000000005828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6059030PMC
July 2018

Biomarkers of Nonmotor Symptoms in Parkinson's Disease.

Int Rev Neurobiol 2017 27;133:259-289. Epub 2017 Jun 27.

Mayo Clinic, Jacksonville, FL, United States. Electronic address:

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http://dx.doi.org/10.1016/bs.irn.2017.05.020DOI Listing
April 2018

Comparison of clinical features among Parkinson's disease subtypes: A large retrospective study in a single center.

J Neurol Sci 2018 03 11;386:39-45. Epub 2018 Jan 11.

Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2018.01.013DOI Listing
March 2018

Thalamic DBS with a constant-current device in essential tremor: A controlled clinical trial.

Parkinsonism Relat Disord 2017 Jul 30;40:18-26. Epub 2017 Mar 30.

Surgical Movement Disorders, Department of Neurology, University of California San Francisco and the San Francisco Veteran's Affairs Medical Center, 1635 Divisadero Street, 5th Floor, Suite 520-530, San Francisco, CA 94115, United States. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2017.03.017DOI Listing
July 2017

Occurrence of Crohn's disease with Parkinson's disease.

Parkinsonism Relat Disord 2017 04 10;37:116-117. Epub 2017 Feb 10.

Department of Neurology, Mayo Clinic, Jacksonville, FL, United States. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2017.01.013DOI Listing
April 2017

Profile of cognitive impairment and underlying pathology in multiple system atrophy.

Mov Disord 2017 03 15;32(3):405-413. Epub 2016 Nov 15.

Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.

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http://dx.doi.org/10.1002/mds.26874DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5359072PMC
March 2017

Deep brain stimulation for levodopa-refractory benign tremulous parkinsonism.

Neurol Neurochir Pol 2016;50(5):383-6. Epub 2016 Jun 24.

Department of Neurology, Mayo Clinic, Jacksonville, United States. Electronic address:

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http://dx.doi.org/10.1016/j.pjnns.2016.05.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5012306PMC
January 2017

Cancer in Parkinson's disease.

Parkinsonism Relat Disord 2016 10 20;31:28-33. Epub 2016 Jun 20.

Department of Neurology, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL, 32224, USA. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5048511PMC
http://dx.doi.org/10.1016/j.parkreldis.2016.06.014DOI Listing
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

Tremor in progressive supranuclear palsy.

Parkinsonism Relat Disord 2016 06 22;27:93-7. Epub 2016 Mar 22.

Department of Neuropathology, 4500 San Pablo Road, Jacksonville, FL 32224, USA. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2016.03.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4887294PMC
June 2016

Biomarkers in Parkinson's disease: Advances and strategies.

Parkinsonism Relat Disord 2016 Jan 30;22 Suppl 1:S106-10. Epub 2015 Sep 30.

Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2015.09.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5120398PMC
January 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

When DLB, PD, and PSP masquerade as MSA: an autopsy study of 134 patients.

Neurology 2015 Aug 2;85(5):404-12. Epub 2015 Jul 2.

From the Departments of Neuroscience (S.K., N.A., D.W.D.) and Neurology (R.J.U., J.A.v.G., W.P.C., Z.K.W.), Mayo Clinic, Jacksonville, FL; the Department of Neurology (Behavioural Neurology) (K.A.J.), Mayo Clinic, Rochester, MN; and The Parkinson's Institute and Clinical Center (J.W.L.), Sunnyvale, CA.

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http://www.neurology.org/content/85/5/404.full.pdf
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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000001807DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4534078PMC
August 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

VPS35 and DNAJC13 disease-causing variants in essential tremor.

Eur J Hum Genet 2015 Jun 13;23(6):887-8. Epub 2014 Aug 13.

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1038/ejhg.2014.164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795043PMC
June 2015

LRRK2 exonic variants and risk of multiple system atrophy.

Neurology 2014 Dec 5;83(24):2256-61. Epub 2014 Nov 5.

From the Section of Biostatistics (M.G.H., N.N.D.) and Departments of Neuroscience (A.I.S.-O., S.R., K.O., M.E.M., D.W.D., O.A.R.) and Neurology (S.F., W.P.C., R.J.U., Z.K.W.), Mayo Clinic, Jacksonville, FL; Department of Molecular Neuroscience (L.S., A.S., H.H.), Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Department of Medical Genetics (M.J.F.), University of British Columbia, Vancouver, Canada; Laboratory of Neurogenetics (A.B.S.), National Institute on Aging, Bethesda, MD; Institute of Genetic Medicine (P.F.C., M.J.K.), Newcastle University, Central Parkway, Newcastle upon Tyne; Neuropathology Unit (S.M.G.), Department of Medicine, Imperial College London; Queen Square Brain Bank for Neurological Disorders (J.L.H., K.A.), Department of Molecular Neuroscience, UCL Institute of Neurology, University College London; Clinical and Cognitive Sciences Research Group (D.M.A.M.), Institute of Brain, Behavior and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Salford Royal Hospital, Salford; and MRC London Neurodegenerative Diseases Brain Bank (S.A.-S., C.T.), King's College London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000001078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4277668PMC
December 2014

Familial progressive supranuclear palsy: a literature review.

Neurodegener Dis 2014 24;13(2-3):180-2. Epub 2013 Sep 24.

Department of Neurology, Mayo Clinic, Jacksonville, Fla., USA.

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http://dx.doi.org/10.1159/000354975DOI Listing
September 2014

SLC1A2 rs3794087 does not associate with essential tremor.

Neurobiol Aging 2014 Apr 16;35(4):935.e9-10. Epub 2013 Oct 16.

Department of Medical Genetics, University of British Columbia, Vancouver British Columbia, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.09.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4388040PMC
April 2014

International association of Parkinsonism & Related Disorders--Annual Report 2013.

Authors:
Ryan J Uitti

Parkinsonism Relat Disord 2014 Apr 12;20(4):359. Epub 2014 Feb 12.

International Association of Parkinsonism & Related Disorders, USA.

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http://dx.doi.org/10.1016/j.parkreldis.2014.02.004DOI Listing
April 2014

Investigating FUS variation in Parkinson's disease.

Parkinsonism Relat Disord 2014 Jan;20 Suppl 1:S147-9

Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.

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http://dx.doi.org/10.1016/S1353-8020(13)70035-XDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4721223PMC
January 2014

Update on novel familial forms of Parkinson's disease and multiple system atrophy.

Parkinsonism Relat Disord 2014 Jan;20 Suppl 1:S29-34

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

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http://dx.doi.org/10.1016/S1353-8020(13)70010-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215194PMC
January 2014

TARDBP mutations in Parkinson's disease.

Parkinsonism Relat Disord 2013 Mar 8;19(3):312-5. Epub 2012 Dec 8.

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

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http://dx.doi.org/10.1016/j.parkreldis.2012.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3582838PMC
March 2013

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.

J Med Genet 2012 Nov;49(11):721-6

Department. of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research and DZNE- German Center for Neurodegenerative Diseases, Tübingen, Hoppe-Seyler-Str. 3, Tübingen 72076, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2012-101155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488700PMC
November 2012

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.

Hum Mol Genet 2012 Aug 3;21(15):3500-12. Epub 2012 May 3.

Department of Neurology, University of California, Los Angeles, CA, USA.

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http://dx.doi.org/10.1093/hmg/dds161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3392107PMC
August 2012

Mutations in CIZ1 cause adult onset primary cervical dystonia.

Ann Neurol 2012 Apr 23;71(4):458-69. Epub 2012 Mar 23.

Department of Neurology, University of Tennessee Health Science Center, Memphis, USA.

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http://dx.doi.org/10.1002/ana.23547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334472PMC
April 2012

Loss of ability to work and ability to live independently in Parkinson's disease.

Parkinsonism Relat Disord 2012 Feb 4;18(2):130-5. Epub 2011 Oct 4.

Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA.

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http://dx.doi.org/10.1016/j.parkreldis.2011.08.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977346PMC
February 2012

Tandem deep brain stimulation--challenging new structural targets for Parkinson's disease.

Authors:
Ryan J Uitti

Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S171-3

Department of Neurology, Mayo Clinic, Jacksonville, FL 32256, USA.

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http://dx.doi.org/10.1016/S1353-8020(11)70053-0DOI Listing
January 2012

Treatment of Parkinson's disease: focus on quality of life issues.

Authors:
Ryan J Uitti

Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S34-6

Department of Neurology, Mayo Clinic, Jacksonville, FL 32256, USA.

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http://dx.doi.org/10.1016/S1353-8020(11)70013-XDOI Listing
January 2012

Autosomal dominant Parkinson's disease.

Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S7-10

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

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http://dx.doi.org/10.1016/S1353-8020(11)70005-0DOI Listing
January 2012