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Zbigniew K. Wszolek
Researcher at Mayo Clinic
Publications - 642
Citations - 45664
Zbigniew K. Wszolek is an academic researcher from Mayo Clinic. The author has contributed to research in topics: Parkinsonism & Medicine. The author has an hindex of 93, co-authored 576 publications receiving 39943 citations. Previous affiliations of Zbigniew K. Wszolek include University of British Columbia & University of Nebraska Medical Center.
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Journal ArticleDOI
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
Mariely DeJesus-Hernandez,Ian R. A. Mackenzie,Bradley F. Boeve,Adam L. Boxer,Matt Baker,Nicola J. Rutherford,Alexandra M. Nicholson,Ni Cole A. Finch,Heather C. Flynn,Jennifer Adamson,Naomi Kouri,Aleksandra Wojtas,Pheth Sengdy,Ging-Yuek Robin Hsiung,Anna Karydas,William W. Seeley,Keith A. Josephs,Giovanni Coppola,Daniel H. Geschwind,Zbigniew K. Wszolek,Howard Feldman,Howard Feldman,David S. Knopman,Ronald C. Petersen,Bruce L. Miller,Dennis W. Dickson,Kevin B. Boylan,Neill R. Graff-Radford,Rosa Rademakers +28 more
TL;DR: It is found that repeat expansion in C9ORF72 is a major cause of both FTD and ALS, suggesting multiple disease mechanisms.
Journal ArticleDOI
Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology
Alexander Zimprich,Alexander Zimprich,Saskia Biskup,Petra Leitner,Peter Lichtner,Matthew J. Farrer,Sarah Lincoln,Jennifer M. Kachergus,Mary M. Hulihan,Ryan J. Uitti,Donald B. Calne,A. Jon Stoessl,Ronald F. Pfeiffer,Nadja Patenge,Iria Carballo Carbajal,Peter Vieregge,Friedrich Asmus,Bertram Müller-Myhsok,Dennis W. Dickson,Thomas Meitinger,Tim M. Strom,Zbigniew K. Wszolek,Thomas Gasser +22 more
TL;DR: High-resolution recombination mapping and candidate gene sequencing in 46 families found six disease-segregating mutations in a gene encoding a large, multifunctional protein, LRRK2 (leucine-rich repeat kinase 2), which may be central to the pathogenesis of several major neurodegenerative disorders associated with parkinsonism.
Journal ArticleDOI
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
Paul Hollingworth,Denise Harold,Rebecca Sims,Amy Gerrish,Jean-Charles Lambert,Jean-Charles Lambert,Jean-Charles Lambert,Minerva M. Carrasquillo,Richard Abraham,Marian L. Hamshere,Jaspreet Singh Pahwa,Valentina Moskvina,Kimberley Dowzell,Nicola Jones,Alexandra Stretton,Charlene Thomas,Alexander Richards,Dobril Ivanov,Caroline S. Widdowson,Jade Chapman,Simon Lovestone,John Powell,Petroula Proitsi,Michelle K. Lupton,Carol Brayne,David C. Rubinsztein,Michael Gill,Brian A. Lawlor,Aoibhinn Lynch,Kristelle Brown,Peter Passmore,David Craig,Bernadette McGuinness,Stephen Todd,Clive Holmes,David M. A. Mann,A. David Smith,Helen Beaumont,Donald Warden,Gordon K. Wilcock,Seth Love,Patrick G. Kehoe,Nigel M. Hooper,Emma R L C Vardy,John Hardy,Simon Mead,Nick C. Fox,Martin N. Rossor,John Collinge,Wolfgang Maier,Frank Jessen,Eckart Rüther,Britta Schürmann,R. Heun,Heike Kölsch,Hendrik van den Bussche,Isabella Heuser,Johannes Kornhuber,Jens Wiltfang,Martin Dichgans,Lutz Frölich,Harald Hampel,John Gallacher,Michael Hüll,Dan Rujescu,Ina Giegling,Alison Goate,John S. K. Kauwe,Carlos Cruchaga,Petra Nowotny,John C. Morris,Kevin Mayo,Kristel Sleegers,Karolien Bettens,Sebastiaan Engelborghs,Peter Paul De Deyn,Christine Van Broeckhoven,Gill Livingston,Nicholas Bass,Hugh Gurling,Andrew McQuillin,Rhian Gwilliam,Panagiotis Deloukas,Ammar Al-Chalabi,Christopher Shaw,Magda Tsolaki,Andrew B. Singleton,Rita Guerreiro,Thomas W. Mühleisen,Markus M. Nöthen,Susanne Moebus,Karl-Heinz Jöckel,Norman Klopp,H.-Erich Wichmann,V. Shane Pankratz,Sigrid Botne Sando,Jan O. Aasly,Maria Barcikowska,Zbigniew K. Wszolek,Dennis W. Dickson,Neill R. Graff-Radford,Ronald C. Petersen,Cornelia M. van Duijn,Monique M.B. Breteler,M. Arfan Ikram,Anita L. DeStefano,Annette L. Fitzpatrick,Oscar L. Lopez,Lenore J. Launer,Sudha Seshadri,Claudine Berr,Dominique Campion,Jacques Epelbaum,Jean-François Dartigues,Christophe Tzourio,Annick Alpérovitch,Mark Lathrop,T. Feulner,Patricia Friedrich,Caterina Riehle,Michael Krawczak,Stefan Schreiber,Manuel Mayhaus,S. Nicolhaus,Stefan Wagenpfeil,Stacy Steinberg,Hreinn Stefansson,Kari Stefansson,Jon Snaedal,Sigurbjorn Bjornsson,Palmi V. Jonsson,Vincent Chouraki,Vincent Chouraki,Vincent Chouraki,Benjamin Genier-Boley,Benjamin Genier-Boley,Benjamin Genier-Boley,Mikko Hiltunen,Hilkka Soininen,Onofre Combarros,Diana Zelenika,Marc Delepine,María J. Bullido,Florence Pasquier,Ignacio Mateo,Ana Frank-García,Elisa Porcellini,Olivier Hanon,Eliecer Coto,Victoria Alvarez,Paolo Bosco,Gabriele Siciliano,Michelangelo Mancuso,Francesco Panza,Vincenzo Solfrizzi,Benedetta Nacmias,Sandro Sorbi,Paola Bossù,Paola Piccardi,Beatrice Arosio,Giorgio Annoni,Davide Seripa,Alberto Pilotto,Elio Scarpini,Daniela Galimberti,Alexis Brice,Didier Hannequin,Federico Licastro,Lesley Jones,Peter Holmans,Thorlakur Jonsson,Matthias Riemenschneider,Kevin Morgan,Steven G. Younkin,Michael John Owen,Michael Conlon O'Donovan,Philippe Amouyel,Julie Williams +177 more
TL;DR: Meta-analyses of all data provided compelling evidence that ABCA7 and the MS4A gene cluster are new Alzheimer's disease susceptibility loci and independent evidence for association for three loci reported by the ADGC, which, when combined, showed genome-wide significance.
Journal ArticleDOI
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
Daniel G. Healy,Mario Falchi,Sean S. O'Sullivan,Vincenzo Bonifati,Alexandra Durr,Susan B. Bressman,Alexis Brice,Jan O. Aasly,Cyrus P. Zabetian,Stefano Goldwurm,Joaquim J. Ferreira,Eduardo Tolosa,Denise M. Kay,Christine Klein,David R. Williams,Connie Marras,Anthony E. Lang,Zbigniew K. Wszolek,José Berciano,Anthony H.V. Schapira,Timothy Lynch,Kailash P. Bhatia,Thomas Gasser,Andrew J. Lees,Andrew J. Lees,Nicholas W. Wood +25 more
TL;DR: Mutations in LRRK2 are a clinically relevant cause of PD that merit testing in patients with hereditary PD and in subgroups of patients with PD, but this knowledge should be applied with caution in the diagnosis and counselling of patients.
Journal ArticleDOI
Mutation-Specific Functional Impairments in Distinct Tau Isoforms of Hereditary FTDP-17
Ming Hong,Victoria Zhukareva,Vanessa Vogelsberg-Ragaglia,Zbigniew K. Wszolek,Lee Reed,Bruce I. Miller,Daniel H. Geschwind,Thomas D. Bird,Daniel W. McKeel,Alison Goate,John C. Morris,Kirk C. Wilhelmsen,Gerard D. Schellenberg,John Q. Trojanowski,Virginia M.-Y. Lee +14 more
TL;DR: Functional assays of recombinant tau proteins with different FTDP-17 missense mutations implicated all but one of these mutations in disease pathogenesis by reducing the ability of tau to bind microtubules and promote microtubule assembly.