A
Agnita J.W. Boon
Researcher at Erasmus University Rotterdam
Publications - 51
Citations - 1672
Agnita J.W. Boon is an academic researcher from Erasmus University Rotterdam. The author has contributed to research in topics: Progressive supranuclear palsy & Aceruloplasminemia. The author has an hindex of 16, co-authored 47 publications receiving 1310 citations. Previous affiliations of Agnita J.W. Boon include Erasmus University Medical Center.
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Journal ArticleDOI
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
Günter U. Höglinger,Nadine M. Melhem,Dennis W. Dickson,Patrick M. A. Sleiman,Li-San Wang,Lambertus Klei,Rosa Rademakers,Rohan de Silva,Irene Litvan,David E. Riley,John C. van Swieten,Peter Heutink,Zbigniew K. Wszolek,Ryan J. Uitti,Jana Vandrovcova,Howard I. Hurtig,Rachel G. Gross,Walter Maetzler,Stefano Goldwurm,Eduardo Tolosa,Barbara Borroni,Pau Pastor,Laura B. Cantwell,Mi Ryung Han,Allissa Dillman,Marcel P. van der Brug,J. Raphael Gibbs,J. Raphael Gibbs,Mark R. Cookson,Dena G. Hernandez,Dena G. Hernandez,Andrew B. Singleton,Matthew J. Farrer,Chang En Yu,Lawrence I. Golbe,Tamas Revesz,John Hardy,Andrew J. Lees,Bernie Devlin,Hakon Hakonarson,Ulrich Müller,Gerard D. Schellenberg,Roger L. Albin,Elena Alonso,Angelo Antonini,Manuela Apfelbacher,Steven E. Arnold,Jesús Avila,Thomas G. Beach,Sherry Beecher,Daniela Berg,Thomas D. Bird,Nenad Bogdanovic,Agnita J.W. Boon,Yvette Bordelon,Alexis Brice,Alexis Brice,Herbert Budka,Margherita Canesi,Wang Zheng Chiu,Roberto Cilia,Carlo Colosimo,Peter Paul De Deyn,Justo Garcãa De Yebenes,Laura Donker Kaat,Ranjan Duara,Alexandra Durr,Alexandra Durr,Sebastiaan Engelborghs,Giovanni Fabbrini,Nicole A. Finch,Robyn Flook,Matthew P. Frosch,Carles Gaig,Douglas Galasko,Thomas Gasser,Marla Gearing,Evan T. Geller,Bernardino Ghetti,Neill R. Graff-Radford,Murray Grossman,Deborah A. Hall,Lili-Naz Hazrati,Matthias Höllerhage,Joseph Jankovic,Jorge L. Juncos,Anna Karydas,Hans A. Kretzschmar,Isabelle Leber,Isabelle Leber,Virginia M.-Y. Lee,Andrew P. Lieberman,Kelly E. Lyons,Claudio Mariani,Eliezer Masliah,Luke A. Massey,Catriona McLean,Nicoletta Meucci,Bruce L. Miller,Brit Mollenhauer,Jens Carsten Möller,Huw R. Morris,Christopher Morris,Sean S. O'Sullivan,Wolfgang H. Oertel,Donatella Ottaviani,Alessandro Padovani,Rajesh Pahwa,Gianni Pezzoli,Stuart Pickering-Brown,Werner Poewe,Alberto Rábano,Alex Rajput,Stephen G. Reich,Gesine Respondek,Sigrun Roeber,Jonathan D. Rohrer,Owen A. Ross,Martin N. Rossor,Giorgio Sacilotto,William W. Seeley,Klaus Seppi,Laura Silveira-Moriyama,Salvatore Spina,Karin Srulijes,Peter St George-Hyslop,Maria Stamelou,David G. Standaert,Silvana Tesei,Wallace W. Tourtellotte,Claudia Trenkwalder,Claire Troakes,John Q. Trojanowski,Juan C. Troncoso,Vivianna M. Van Deerlin,Jean Paul G. Vonsattel,Gregor K. Wenning,Charles L. White,Pia Winter,Chris Zarow,Anna Zecchinelli +140 more
TL;DR: Two independent variants in MAPT affecting risk for PSP are confirmed, one of which influences MAPT brain expression and the genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface and for a myelin structural component.
Journal ArticleDOI
Frontal presentation in progressive supranuclear palsy
L. Donker Kaat,Agnita J.W. Boon,Wouter Kamphorst,Rivka Ravid,Hugo J. Duivenvoorden,J. C. van Swieten +5 more
TL;DR: There exists a subgroup of patients with progressive supranuclear palsy with a predominant frontal presentation, who progressed into typical PSP over the course of the disease, and this subgroup had a similar prognosis to that of the total group of patients.
Journal ArticleDOI
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease
Simone Olgiati,Marialuisa Quadri,Mingyan Fang,Janneke P.M.A. Rood,Jonas Alex Morales Saute,Hsin Fen Chien,Christian G. Bouwkamp,Josja Graafland,Michelle Minneboo,Guido J. Breedveld,Jianguo Zhang,Frans W. Verheijen,Agnita J.W. Boon,Anneke J.A. Kievit,Laura Bannach Jardim,Wim Mandemakers,Egberto Reis Barbosa,Carlos Roberto de Mello Rieder,Klaus L. Leenders,Jun Wang,Vincenzo Bonifati +20 more
TL;DR: For the first time, DNAJC6 mutations in early‐onset Parkinson's disease (PD) are reported in two families with autosomal recessive juvenile parkinsonism.
Journal ArticleDOI
LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study
Marialuisa Quadri,Wim Mandemakers,Martyna M. Grochowska,Roy Masius,Hanneke Geut,Hanneke Geut,Edito Fabrizio,Guido J. Breedveld,Demy J.S. Kuipers,Michelle Minneboo,Leonie J.M. Vergouw,Ana Carreras Mascaro,Ekaterina Yonova-Doing,Ekaterina Yonova-Doing,Erik J. Simons,Erik J. Simons,Tianna Zhao,Tianna Zhao,Alessio Di Fonzo,Alessio Di Fonzo,Hsiu Chen Chang,Piero Parchi,Marta Melis,Leonor Correia Guedes,Chiara Criscuolo,Astrid Thomas,Rutger W W Brouwer,Daphne Heijsman,Angela Ingrassia,Giovanna Calandra Buonaura,Janneke P.M.A. Rood,Sabina Capellari,Annemieke J.M. Rozemuller,Marianna Sarchioto,Hsin Fen Chien,Nicola Vanacore,Simone Olgiati,Yah Huei Wu-Chou,Tu Hsueh Yeh,Agnita J.W. Boon,Susanne E. Hoogers,Mehrnaz Ghazvini,Arne S. IJpma,Wilfred F. J. van IJcken,Marco Onofrj,Paolo Barone,David Nicholl,Andreas Puschmann,Michele De Mari,Anneke J.A. Kievit,Egberto Reis Barbosa,Giuseppe De Michele,Danielle Majoor-Krakauer,John C. van Swieten,Frank Jan de Jong,Joaquim J. Ferreira,Giovanni Cossu,Chin Song Lu,Giuseppe Meco,Pietro Cortelli,Wilma D.J. van de Berg,Vincenzo Bonifati +61 more
TL;DR: The findings implicate LRP10 gene defects in the development of inherited forms of α-synucleinopathies in Parkinson's disease and dementia with Lewy bodies and suggest novel insights into mechanisms, biomarkers, and therapeutic targets are offered.
Journal ArticleDOI
Neurologic syndromes related to anti-GAD65: Clinical and serologic response to treatment.
Amaia Muñoz-Lopetegi,Marienke A.A.M. de Bruijn,Sanae Boukhrissi,Anna E M Bastiaansen,Mariska M.P. Nagtzaam,Esther Hulsenboom,Agnita J.W. Boon,Rinze F. Neuteboom,Juna M. de Vries,Peter A. E. Sillevis Smitt,Marco W.J. Schreurs,Maarten J. Titulaer +11 more
TL;DR: Most patients with high anti-GAD65 concentrations showed some improvement after immunotherapy, unfortunately without complete recovery, but serum antibody concentrations' course might be useful to monitor response.