K
Karen Nuytemans
Researcher at University of Miami
Publications - 54
Citations - 1908
Karen Nuytemans is an academic researcher from University of Miami. The author has contributed to research in topics: Medicine & Disease. The author has an hindex of 18, co-authored 39 publications receiving 1664 citations. Previous affiliations of Karen Nuytemans include John P. Hussman Institute for Human Genomics & Flanders Institute for Biotechnology.
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Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.
TL;DR: It became apparent that several of the five Parkinson genes were also contributing to the genetic etiology of other Lewy Body Diseases and Parkinson‐plus syndromes, indicating that mutation screening is recommendable in these patient groups.
Journal ArticleDOI
Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.
Nathalie Brouwers,Karen Nuytemans,Karen Nuytemans,Julie van der Zee,Julie van der Zee,Ilse Gijselinck,Ilse Gijselinck,Sebastiaan Engelborghs,Jessie Theuns,Jessie Theuns,Samir Kumar-Singh,Samir Kumar-Singh,Barbara A. Pickut,Philippe Pals,Bart Dermaut,Veerle Bogaerts,Veerle Bogaerts,Tim De Pooter,Tim De Pooter,Sally Serneels,Sally Serneels,Marleen Van den Broeck,Marleen Van den Broeck,Ivy Cuijt,Ivy Cuijt,Maria Mattheijssens,Maria Mattheijssens,Karin Peeters,Karin Peeters,Raphael Sciot,Jean-Jacques Martin,Patrick Cras,Patrick Santens,Rik Vandenberghe,Peter Paul De Deyn,Marc Cruts,Marc Cruts,Christine Van Broeckhoven,Christine Van Broeckhoven,Kristel Sleegers,Kristel Sleegers +40 more
TL;DR: To assess whether PGRN genetic variability contributed to other common neurodegenerative brain diseases, such as Alzheimer disease (AD) or Parkinson disease (PD), mutation data indicated that null mutations are rare in patients with AD and PD.
Journal ArticleDOI
Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease
Kristoffer Haugarvoll,Kristoffer Haugarvoll,Rosa Rademakers,Rosa Rademakers,Jennifer M. Kachergus,Karen Nuytemans,Owen A. Ross,J. M. Gibson,Eng-King Tan,Carles Gaig,Eduard Tolosa,Stefano Goldwurm,Marco Guidi,Giulio Riboldazzi,L. Brown,Uwe Walter,Reiner Benecke,Daniela Berg,T. Gasser,T. Gasser,Jessie Theuns,Philippe Pals,Patrick Cras,P. Paul De Deyn,S. Engelborghs,Barbara A. Pickut,Ryan J. Uitti,Tatiana Foroud,William C. Nichols,Johann Hagenah,Christine Klein,Ali Samii,Cyrus P. Zabetian,Vincenzo Bonifati,C. Van Broeckhoven,Matthew J. Farrer,Zbigniew K. Wszolek +36 more
TL;DR: The distribution in age at onset and clinical features in LRRK2 p.R1441C patients are similar to idiopathic and Lrrk 2 p.G2019S parkinsonism, and several independent founders of the p.
Journal ArticleDOI
Identification of TMEM230 mutations in familial Parkinson's disease
Han Xiang Deng,Yong Shi,Yi Yang,Kreshnik B. Ahmeti,Nimrod Miller,Cao Huang,Lijun Cheng,Hong Zhai,Sheng Deng,Sheng Deng,Karen Nuytemans,Nicola J. Corbett,Myung Jong Kim,Hao Deng,Beisha Tang,Ziquang Yang,Ziquang Yang,Yanming Xu,Piu Chan,Bo Huang,Xiao Ping Gao,Zhi Song,Zhenhua Liu,Faisal Fecto,Nailah Siddique,Tatiana Foroud,Joseph Jankovic,Bernardino Ghetti,Daniel A. Nicholson,Dimitri Krainc,Onur Melen,Jeffery M. Vance,Margaret A. Pericak-Vance,Yong Chao Ma,Ali H. Rajput,Teepu Siddique +35 more
TL;DR: A locus for autosomal dominant, clinically typical and Lewy body-confirmed Parkinson's disease on the short arm of chromosome 20 (20pter-p12) and identify TMEM230 as the disease-causing gene.
Identification of TMEM230 mutations in familial Parkinson's disease
Han Xiang Deng,Yong Shi,Yi Yang,Kreshnik B. Ahmeti,Nimrod Miller,Cao Huang,Lijun Cheng,Hong Zhai,Sheng Deng,Karen Nuytemans,Nicola J. Corbett,Myung Jong Kim,Hao Deng,Baisha Tang,Ziquang Yang,Yanming Xu,Piao Chen,Bo Huang,Xiao-Ping Gao,Zhi Song,Zhenhua Liu,Faisal Fecto,Nailah Siddique,Tatiana Foroud,Joseph Jankovic,Bernardino Ghetti,Daniel A. Nicholson,Dimitri Krainc,Onur Melen,Jeffery M. Vance,Margaret A. Pericak-Vance,Yong Chao Ma,Ali H. Rajput,Teepu Siddique +33 more
TL;DR: This work reports a locus for autosomal dominant, clinically typical and Lewy body–confirmed Parkinson's disease on the short arm of chromosome 20 (20pter-p12) and identifies TMEM230 as the disease-causing gene and shows that it encodes a transmembrane protein of secretory/recycling vesicles, including synaptic vesicle trafficking in neurons.