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Author Details

Patrizia Rizzu
German Center for Neurodegenerative Diseases
1991
94
42
PMIDPaper TitleJournal TitlePublished Year
37149835Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals OTUD4 in shared dysregulated signatures across pathological subtypes.Acta Neuropathol2023
37508584Epigenetic Age Acceleration in Frontotemporal Lobar Degeneration: A Comprehensive Analysis in the Blood and Brain.Cells2023
38040703A multi-omics dataset for the analysis of frontotemporal dementia genetic subtypes.Sci Data2023
36950378The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism.Cell Genom2023
35799292Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia.Acta Neuropathol Commun2022
35675776Drug screen in iPSC-Neurons identifies nucleoside analogs as inhibitors of (G<sub>4</sub>C<sub>2</sub>)<sub>n</sub> expression in C9orf72 ALS/FTD.Cell Rep2022
32337344Clinical and pathologic phenotype of a large family with heterozygous <i>STUB1</i> mutation.Neurol Genet2020
33134924Experimental glioma with high bHLH expression harbor increased replicative stress and are sensitive toward ATR inhibition.Neurooncol Adv2020
32831313Automated Production of Human Induced Pluripotent Stem Cell-Derived Cortical and Dopaminergic Neurons with Integrated Live-Cell Monitoring.J Vis Exp2020
30610612Antisense Transcription in Loci Associated to Hereditary Neurodegenerative Diseases.Mol Neurobiol2019
30739198Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.Acta Neuropathol2019
30482917Publisher Correction: Enhancers active in dopamine neurons are a primary link between genetic variation and neuropsychiatric disease.Nat Neurosci2019
28749476The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.Genet Med2018
30224808Enhancers active in dopamine neurons are a primary link between genetic variation and neuropsychiatric disease.Nat Neurosci2018
30538238Author Correction: Transcription start site profiling of 15 anatomical regions of the Macaca mulatta central nervous system.Sci Data2018
28860381β2-Adrenoreceptor is a regulator of the α-synuclein gene driving risk of Parkinson's disease.Science2017
28137300Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.Genome Biol2017
29087374Transcription start site profiling of 15 anatomical regions of the Macaca mulatta central nervous system.Sci Data2017
28829439An integrated expression atlas of miRNAs and their promoters in human and mouse.Nat Biotechnol2017
28850106FANTOM5 CAGE profiles of human and mouse samples.Sci Data2017
28686858A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.Am J Hum Genet2017
27079381C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.Acta Neuropathol Commun2016
26522186Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants.Neurobiol Aging2016
27632209Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.PLoS One2016
27287230Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe.Genome Med2016
25592071Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1.Cerebellum2015
26188928Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome.BMC Med Genet2015
23438842Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.Clin Genet2014
25259530Trehalose improves human fibroblast deficits in a new CHIP-mutation related ataxia.PLoS One2014
25002573Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia.Neurology2014
25108559Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort.J Neurol2014
24943344Frontotemporal dementia and its subtypes: a genome-wide association study.Lancet Neurol2014
24670764A promoter-level mammalian expression atlas.Nature2014
23332918Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.Am J Hum Genet2013
24278217Resequencing three candidate genes for major depressive disorder in a Dutch cohort.PLoS One2013
23390180Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia.Neurology2013
23428183Regional differences in gene expression and promoter usage in aged human brains.Neurobiol Aging2013
21555194TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment.Brain Dev2012
23067778Blood-brain barrier P-glycoprotein function in healthy subjects and Alzheimer's disease patients: effect of polymorphisms in the ABCB1 gene.EJNMMI Res2012
22762387Supporting the generalist genes hypothesis for intellectual ability/disability: the case of SNAP25.Genes Brain Behav2012
22876576A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations?Genet Couns2012
22649524A fine-mapping study of 7 top scoring genes from a GWAS for major depressive disorder.PLoS One2012
22378280Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers.Eur J Hum Genet2012
21248740Genome-wide association study confirms extant PD risk loci among the Dutch.Eur J Hum Genet2011
22023810Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report.BMC Neurol2011
22037309Somatic retrotransposition alters the genetic landscape of the human brain.Nature2011
21775700The complete automation of cell culture: improvements for high-throughput and high-content screening.J Biomol Screen2011
21357838Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly.Neurology2011
19477666A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.Eur J Paediatr Neurol2010
20477721The Netherlands Twin Register biobank: a resource for genetic epidemiological studies.Twin Res Hum Genet2010
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Thomas D Bird
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Collaborators

Peter Heutink
German Center for Neurodegenerative Diseases (DZNE).
Co-authored papers 67
Ben A Oostra
Co-authored papers 10
Cornelia M van Duijn
University of Oxford
Co-authored papers 8
Margherita Francescatto
German Center for Neurodegenerative Diseases
Co-authored papers 7
Dorret I Boomsma
Co-authored papers 6
Yoshihide Hayashizaki
Center for Integrative Medical Sciences
Co-authored papers 6
Timo Lassmann
Telethon Kids Institute, University of Western Australia
Co-authored papers 6
Piero Carninci
RIKEN Center for Integrative Medical Sciences
Co-authored papers 6
Alistair R R Forrest
RIKEN Center for Integrative Medical Sciences
Co-authored papers 6
Hideya Kawaji
RIKEN Center for Integrative Medical Sciences
Co-authored papers 6
Andrew B Singleton
National Institute on Aging
Co-authored papers 6
Carsten O Daub
International Institute of Molecular and Cell Biology in Warsaw
Co-authored papers 5
John Q Trojanowski
University of Pennsylvania
Co-authored papers 5
Masayoshi Itoh
RIKEN Center for Integrative Medical Sciences
Co-authored papers 5
Jessica Severin
Center for Integrative Medical Sciences
Co-authored papers 5
Eco J C de Geus
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Takeya Kasukawa
RIKEN Center for Integrative Medical Sciences
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Marina Lizio
Cerevance Ltd
Co-authored papers 5
Jayson Harshbarger
RIKEN Center for Integrative Medical Sciences
Co-authored papers 5
Stefano Gustincich
Istituto Italiano di Tecnologia
Co-authored papers 4
Ronald C Petersen
Mayo Clinic Rochester
Co-authored papers 4
Dennis W Dickson
Mayo Clinic Jacksonville
Co-authored papers 4
Shoko Watanabe
The Jikei University School of Medicine
Co-authored papers 4
Mizuho Sakai
University of California berkeley
Co-authored papers 4
William W Seeley
UCSF Weill Institute for Neurosciences, University of California san francisco
Co-authored papers 4
Danielle Posthuma
Co-authored papers 4
Imad Abugessaisa
RIKEN Center for Integrative Medical Sciences
Co-authored papers 4
Akira Hasegawa
RIKEN Center for Integrative Medical Sciences
Co-authored papers 4
Alexis Brice
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
Co-authored papers 4
Weonju Lee
Kyungpook National University, Kyungpook National University Hospital
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Release 1.2