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Author Details

Nicolas Casadei
Institute of Medical Genetics and Applied Genomics, University of Tubingen
2007
67
17
PMIDPaper TitleJournal TitlePublished Year
37734845Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.J Med Genet2024
36350188Morpho-Functional Changes of Nigral Dopamine Neurons in an α-Synuclein Model of Parkinson's Disease.Mov Disord2023
37996455Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study.NPJ Parkinsons Dis2023
37604687Lasting response by vertical inhibition with cetuximab and trametinib in KRAS-mutated colorectal cancer patient-derived xenografts.Mol Oncol2023
37124042Whole genome analysis of two sympatric human <i>Mansonella</i>: <i>Mansonella perstans</i> and <i>Mansonella</i> sp "DEUX".Front Cell Infect Microbiol2023
37403161Overexpression of human alpha-Synuclein leads to dysregulated microbiome/metabolites with ageing in a rat model of Parkinson disease.Mol Neurodegener2023
37071051Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.Brain2023
36932186Endogenous but not sensory-driven activity controls migration, morphogenesis and survival of adult-born juxtaglomerular neurons in the mouse olfactory bulb.Cell Mol Life Sci2023
36760167Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome.Mol Genet Genomic Med2023
36891903Platelet-Derived MicroRNAs Regulate Cardiac Remodeling After Myocardial Ischemia.Circ Res2023
34716557A Novel SCA3 Knock-in Mouse Model Mimics the Human SCA3 Disease Phenotype Including Neuropathological, Behavioral, and Transcriptional Abnormalities Especially in Oligodendrocytes.Mol Neurobiol2022
35482253Calpains as novel players in the molecular pathogenesis of spinocerebellar ataxia type 17.Cell Mol Life Sci2022
35720148SARS-CoV-2 B.1.214.1, B.1.214.2 and B.1.620 are predominant lineages between December 2020 and July 2021 in the Republic of Congo.IJID Reg2022
35753602Host genetic loci LZTFL1 and CCL2 associated with SARS-CoV-2 infection and severity of COVID-19.Int J Infect Dis2022
36533136Miro1 R272Q disrupts mitochondrial calcium handling and neurotransmitter uptake in dopaminergic neurons.Front Mol Neurosci2022
36417521Intronic enhancers of the human <i>SNCA</i> gene predominantly regulate its expression in brain in vivo.Sci Adv2022
36327219Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.PLoS Genet2022
35015830DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.Brain2022
35111157Human Leucocyte Antigen G and Murine Qa-2 Are Critical for Myeloid Derived Suppressor Cell Expansion and Activation and for Successful Pregnancy Outcome.Front Immunol2022
34495503Identification and Functional Characterization of Argonaute (Ago) Proteins in Insect Genomes.Methods Mol Biol2022
33221382Immunophenotyping in pemphigus reveals a T<sub>H</sub>17/T<sub>FH</sub>17 cell-dominated immune response promoting desmoglein1/3-specific autoantibody production.J Allergy Clin Immunol2021
33737129Genomic surveillance of SARS-CoV-2 in the Republic of Congo.Int J Infect Dis2021
34754035Gene-corrected p.A30P SNCA patient-derived isogenic neurons rescue neuronal branching and function.Sci Rep2021
34424997SARS-CoV-2-reactive T-cell receptors isolated from convalescent COVID-19 patients confer potent T-cell effector function.Eur J Immunol2021
34423816Essential role of DNA-PKcs and plasminogen for the development of doxorubicin-induced glomerular injury in mice.Dis Model Mech2021
34568310Imaging of α-Synuclein Aggregates in a Rat Model of Parkinson's Disease Using Raman Microspectroscopy.Front Cell Dev Biol2021
34271981Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models.Genome Med2021
34040261Swarm Learning for decentralized and confidential clinical machine learning.Nature2021
34359002Generation of R272Q, S156A and K572R RHOT1/Miro1 point mutations in iPSCs from a healthy individual using FACS-assisted CRISPR/Cas9 genome editing.Stem Cell Res2021
34022130Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.Am J Hum Genet2021
33200461Psychosis-Like Behavior and Hyperdopaminergic Dysregulation in Human α-Synuclein BAC Transgenic Rats.Mov Disord2021
32112337Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia.J Mol Neurosci2020
32085662Using Transcriptomic Analysis to Assess Double-Strand Break Repair Activity: Towards Precise in vivo Genome Editing.Int J Mol Sci2020
31960910Calpain-1 ablation partially rescues disease-associated hallmarks in models of Machado-Joseph disease.Hum Mol Genet2020
33372182Comprehensive phenotyping revealed transient startle response reduction and histopathological gadolinium localization to perineuronal nets after gadodiamide administration in rats.Sci Rep2020
33299968Human Dopaminergic Neurons Lacking PINK1 Exhibit Disrupted Dopamine Metabolism Related to Vitamin B6 Co-Factors.iScience2020
33072755The Endometrial Transcription Landscape of MRKH Syndrome.Front Cell Dev Biol2020
32576837Comparative targeting analysis of KLF1, BCL11A, and HBG1/2 in CD34<sup>+</sup> HSPCs by CRISPR/Cas9 for the induction of fetal hemoglobin.Sci Rep2020
32999308DJ-1 (Park7) affects the gut microbiome, metabolites and the development of innate lymphoid cells (ILCs).Sci Rep2020
33017301Increased expression of myelin-associated genes in frontal cortex of <i>SNCA</i> overexpressing rats and Parkinson's disease patients.Aging (Albany NY)2020
30686992Distinct Stress Response and Altered Striatal Transcriptome in Alpha-Synuclein Overexpressing Mice.Front Neurosci2019
31749671Enriched Environmental Conditions Modify the Gut Microbiome Composition and Fecal Markers of Inflammation in Parkinson's Disease.Front Neurosci2019
31920950Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.Front Neurol2019
31611555Author Correction: Blunting neuroinflammation with resolvin D1 prevents early pathology in a rat model of Parkinson's disease.Nat Commun2019
31240402α-Synuclein in Parkinson's disease: causal or bystander?J Neural Transm (Vienna)2019
31351799Low mutational load in pediatric medulloblastoma still translates into neoantigens as targets for specific T-cell immunotherapy.Cytotherapy2019
31351096Systematic data analysis and data mining in CatWalk gait analysis by heat mapping exemplified in rodent models for neurodegenerative diseases.J Neurosci Methods2019
31550441Ubiquitin-specific protease USP36 knockdown impairs Parkin-dependent mitophagy via downregulation of Beclin-1-associated autophagy-related ATG14L.Exp Cell Res2019
31604813Silhouette-Length-Scaled Gait Parameters for Motor Functional Analysis in Mice and Rats.eNeuro2019
31254094Evidence for bidirectional and trans-synaptic parasympathetic and sympathetic propagation of alpha-synuclein in rats.Acta Neuropathol2019
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Collaborators

Stephan Ossowski
Institute of Medical Genetics and Applied Genomics, University of Tubingen
Co-authored papers 7
Henry Houlden
Institute of Neurology, University College London (UCL)
Co-authored papers 3
Ana Velic
Interfaculty Institute for Cell Biology.
Co-authored papers 2
Eliezer Masliah
National Institute On Aging
Co-authored papers 2
Enrico Glaab
University of Luxembourg
Co-authored papers 2
Szymon Pula
Co-authored papers 1
Paul J Tung
David Geffen School of Medicine, University of California-Los Angeles
Co-authored papers 1
Marina Marcet-Houben
Institute for Research in Biomedicine (IRB)
Co-authored papers 1
Mathieu Bourgey
McGill University
Co-authored papers 1
Albandari Binowayn
King Fahad Medical City and King Abdulaziz City for Science and Technology
Co-authored papers 1
Nattiya Hirankarn
Chulalongkorn University
Co-authored papers 1
Ho Namkoong
Keio University School of Medicine
Co-authored papers 1
Mathieu Quinodoz
Institute of Molecular and Clinical Ophthalmology Basel (IOB)
Co-authored papers 1
Daniel M Jordan
Icahn School of Medicine at Mount Sinai
Co-authored papers 1
Noam D Beckmann
Icahn School of Medicine at Mount Sinai.
Co-authored papers 1
Antonio Salas
Instituto de Investigacion Sanitaria de Santiago
Co-authored papers 1
Timothy Sanders
David Geffen School of Medicine, University of California-Los Angeles
Co-authored papers 1
Nicole Simons
Icahn School of Medicine at Mount Sinai
Co-authored papers 1
Efren Sandoval
Co-authored papers 1
Carlo Rivolta
Institute of Molecular and Clinical Ophthalmology Basel (IOB)
Co-authored papers 1
Monnat Pongpanich
Chulalongkorn University
Co-authored papers 1
Boris Ma??ek
Interfaculty Institute for Cell Biology, University of Tubingen
Co-authored papers 1
Joseph D Buxbaum
Icahn School of Medicine at Mount Sinai
Co-authored papers 1
Francisco Tanudjaja
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Mateusz Sypniewski
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Release 1.2