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Patrizia Rizzu
Researcher at German Center for Neurodegenerative Diseases
Publications - 101
Citations - 17635
Patrizia Rizzu is an academic researcher from German Center for Neurodegenerative Diseases. The author has contributed to research in topics: Frontotemporal dementia & Gene. The author has an hindex of 44, co-authored 92 publications receiving 15304 citations. Previous affiliations of Patrizia Rizzu include Erasmus University Medical Center & VU University Amsterdam.
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Journal ArticleDOI
Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants
Cornelis Blauwendraat,Carlo Wilke,Carlo Wilke,Iris E. Jansen,Iris E. Jansen,Claudia Schulte,Claudia Schulte,Javier Simón-Sánchez,Javier Simón-Sánchez,Florian Metzger,Benjamin Bender,Thomas Gasser,Thomas Gasser,Walter Maetzler,Walter Maetzler,Patrizia Rizzu,Peter Heutink,Peter Heutink,Peter Heutink,Matthis Synofzik,Matthis Synofzik +20 more
TL;DR: A substantial frequency of variants in dementia genes in EOAD, including several seemingly "sporadic" subjects, indicates that heritability in EBroad might be higher than assumed and suggests the need to screen AD genes in frontotemporal dementia-like phenotypes.
Journal ArticleDOI
Regional differences in gene expression and promoter usage in aged human brains
Luba M. Pardo,Patrizia Rizzu,Margherita Francescatto,Morana Vitezic,Gwenaël G. R. Leday,Javier Simon Sanchez,Abdullah M. Khamis,Hazuki Takahashi,Wilma D.J. van de Berg,Yulia A. Medvedeva,Mark A. van de Wiel,Carsten O. Daub,Piero Carninci,Peter Heutink +13 more
TL;DR: This study underscores alternative promoter usage as an important mechanism for determining the regional differences in gene expression at old age by using high-throughput cap analysis of gene expression to profile the transcription start sites and to quantify the differences across the 5 brain regions.
Journal ArticleDOI
CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia.
Patrizia Rizzu,Patrizia Rizzu,Saskia E. van Mil,Saskia E. van Mil,Burcu Anar,Burcu Anar,Sonia M. Rosso,Laura Donker Kaat,Peter Heutink,Peter Heutink,John C. van Swieten +10 more
TL;DR: The results suggest that mutations in CHMP2B are a rare cause of FTD as compared to MAPT mutations.
Journal ArticleDOI
A Fine-Mapping Study of 7 Top Scoring Genes from a GWAS for Major Depressive Disorder
Eva C. Verbeek,I. Bakker,Marianna R. Bevova,Zoltán Bochdanovits,Patrizia Rizzu,David Sondervan,Gonneke Willemsen,Eco J. C. de Geus,Johannes H. Smit,Brenda W.J.H. Penninx,Brenda W.J.H. Penninx,Brenda W.J.H. Penninx,Dorret I. Boomsma,Witte J.G. Hoogendijk,Witte J.G. Hoogendijk,Peter Heutink +15 more
TL;DR: Although this study did not identify a more strongly associated variant, the results for PCLO suggest that the causal variant is in high LD withrs2715147, rs2715148 and rs2522833.
Journal ArticleDOI
The tau gene in progressive supranuclear palsy: exclusion of mutations in coding exons and exon 10 splice sites, and identification of a new intronic variant of the disease-associated H1 haplotype in Italian cases
Vincenzo Bonifati,Marijke Joosse,David Nicholl,Nicola Vanacore,Phil Bennett,Patrizia Rizzu,Giovanni Fabbrini,Roberto Marconi,Carlo Colosimo,Nicoletta Locuratolo,Fabrizio Stocchi,Ubaldo Bonuccelli,Michele De Mari,Gregor K. Wenning,Peter Vieregge,Ben A. Oostra,Giuseppe Meco,Peter Heutink +17 more
TL;DR: It is found that typical PSP is not associated with tau gene mutations similar to those causing FTDP-17, and the +39deltaG variant arose in the context of the PSP-associated tau H1 haplotype, likely to be a rare polymorphism that may be in linkage disequilibrium with a biologically relevant locus inside or near to the t Tau gene.