M
Monica Federoff
Researcher at National Institutes of Health
Publications - 16
Citations - 2682
Monica Federoff is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Genome-wide association study & Parkinsonism. The author has an hindex of 10, co-authored 16 publications receiving 2378 citations. Previous affiliations of Monica Federoff include University of California, San Diego & University College London.
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Journal ArticleDOI
Genome-wide association study reveals genetic risk underlying Parkinson's disease
Javier Simón-Sánchez,Claudia Schulte,Jose Bras,Jose Bras,Manu Sharma,J. Raphael Gibbs,J. Raphael Gibbs,Daniela Berg,Coro Paisán-Ruiz,Peter Lichtner,Sonja W. Scholz,Sonja W. Scholz,Dena G. Hernandez,Dena G. Hernandez,Rejko Krüger,Monica Federoff,Christine Klein,Alison Goate,Joel S. Perlmutter,Michael Bonin,Mike A. Nalls,Thomas Illig,Christian Gieger,Henry Houlden,Michael Steffens,Michael S. Okun,Brad A. Racette,Mark R. Cookson,Kelly D. Foote,Hubert H. Fernandez,Bryan J. Traynor,Stefan Schreiber,Sampath Arepalli,Ryan R. Zonozi,Katrina Gwinn,Marcel P. van der Brug,Marcel P. van der Brug,Grisel Lopez,Stephen J. Chanock,Arthur Schatzkin,Yikyung Park,Albert R. Hollenbeck,Jianjun Gao,Xuemei Huang,Nicholas W. Wood,Delia Lorenz,Günther Deuschl,Honglei Chen,Olaf Riess,John Hardy,Andrew B. Singleton,Thomas Gasser +51 more
TL;DR: It is demonstrated that an unequivocal role for common genetic variants in the etiology of typical PD and population-specific genetic heterogeneity in this disease is suggested, and supporting evidence that common variation around LRRK2 modulates risk for PD is provided.
Journal ArticleDOI
Early‐onset L‐dopa‐responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations
Coro Paisán-Ruiz,Rocio Guevara,Monica Federoff,Hasmet Hanagasi,Fardaz Sina,Elahe Elahi,Susanne A. Schneider,Petra Schwingenschuh,Nin Bajaj,Murat Emre,Andrew B. Singleton,Andrew B. Singleton,John Hardy,Kailash P. Bhatia,Sebastian Brandner,Andrew J. Lees,Henry Houlden +16 more
TL;DR: Genetic defects in the ATP13A2, PLA2G6, FBXO7, and SPG11 genes are identified, suggesting that these four genes account for many cases of Levodopa responsive parkinsonism with pyramidal signs cases formerly categorized clinically as pallido‐pyramidal syndrome.
Journal ArticleDOI
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
Eleanna Kara,Eleanna Kara,Arianna Tucci,Arianna Tucci,Claudia Manzoni,Claudia Manzoni,David S. Lynch,Marilena Elpidorou,Conceição Bettencourt,Viorica Chelban,Andreea Manole,Sherifa A. Hamed,Nourelhoda A Haridy,Nourelhoda A Haridy,Monica Federoff,Elisavet Preza,Deborah Hughes,Alan M. Pittman,Zane Jaunmuktane,Sebastian Brandner,Georgia Xiromerisiou,Sarah Wiethoff,Lucia Schottlaender,Christos Proukakis,Huw R. Morris,Thomas T. Warner,Kailash P. Bhatia,L.V. Prasad Korlipara,Andrew B. Singleton,John Hardy,Nicholas W. Wood,Patrick A. Lewis,Patrick A. Lewis,Henry Houlden,Henry Houlden +34 more
TL;DR: This work investigates a series of 97 index cases with complex hereditary spastic paraplegia and identifies SPG11 defects in 30 families, as well as mutations in other HSP genes and genes associated with disorders including Parkinson’s disease.
Journal ArticleDOI
A genome-wide association study in multiple system atrophy
A Sailer,Sonja W. Scholz,Mike A. Nalls,Claudia Schulte,Monica Federoff,T. Ryan Price,Andrew J. Lees,Owen A. Ross,Dennis W. Dickson,Kin Y. Mok,Niccolo E. Mencacci,Lucia Schottlaender,Viorica Chelban,Helen Ling,Sean S. O'Sullivan,Nicholas W. Wood,Bryan J. Traynor,Luigi Ferrucci,Howard J. Federoff,Timothy R. Mhyre,Huw R. Morris,Günther Deuschl,Niall Quinn,Håkan Widner,Alberto Albanese,Jon Infante,Kailash P. Bhatia,Werner Poewe,Wolfgang H. Oertel,Günter U. Höglinger,Ullrich Wüllner,Stefano Goldwurm,Maria Teresa Pellecchia,Joaquim J. Ferreira,Eduardo Tolosa,Bastiaan R. Bloem,Olivier Rascol,Wassilios G. Meissner,John Hardy,Tamas Revesz,Janice L. Holton,Thomas Gasser,Gregor K. Wenning,Andrew B. Singleton,Henry Houlden +44 more
TL;DR: A genome-wide association study (GWAS) in MSA found no association of the genes SNCA and COQ2 with MSA, but several potentially interesting gene loci are identified, including the MAPT locus, whose significance will have to be evaluated in a larger sample set.
Journal ArticleDOI
A large study reveals no association between APOE and Parkinson's disease
TL;DR: There is no association between APOE epsilon alleles and Parkinson's disease and linear regression models comparing MMSE scores as predicted by ε4 or ε2 carrier status and allele dosages were not significant.