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Author Details

Peter P Pramstaller
1995
327
82
PMIDPaper TitleJournal TitlePublished Year
36915380Modeling incomplete penetrance in arrhythmogenic cardiomyopathy by human induced pluripotent stem cell derived cardiomyocytes.2023
35930180Association of dietary proteins with serum creatinine and estimated glomerular filtration rate in a general population sample: the CHRIS study.J Nephrol2023
37834293Myocardial Fibrosis in Hypertrophic Cardiomyopathy: A Perspective from Fibroblasts.2023
37919319Smoking and salivary microbiota: a cross-sectional analysis of an Italian alpine population.Sci Rep2023
37811477Fluorescent reporter of  <i>Caenorhabditis elegans</i> Parkin: Regulators of its abundance and role in autophagy-lysosomal dynamics.Open Res Eur2023
36973269The small GTPase Rit2 modulates LRRK2 kinase activity, is required for lysosomal function and protects against alpha-synuclein neuropathology.NPJ Parkinsons Dis2023
36837765VAMS-Based Blood Capillary Sampling for Mass Spectrometry-Based Human Metabolomics Studies.2023
36768321Increased Levels of the Parkinson's Disease-Associated Gene ITPKB Correlate with Higher Expression Levels of α-Synuclein, Independent of Mutation Status.Int J Mol Sci2023
37398003Whole genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles.medRxiv2023
37079513Structural equation modeling (SEM) of kidney function markers and longitudinal CVD risk assessment.PLoS One2023
37072441Molecular phenotypes of mitochondrial dysfunction in clinically non-manifesting heterozygous PRKN variant carriers.NPJ Parkinsons Dis2023
36478228Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.Brain2023
36992656Determinants of SARS-CoV-2 nasopharyngeal testing in a rural community sample susceptible of first infection: the CHRIS COVID-19 study.Pathog Glob Health2023
36918541Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease.Nat Commun2023
36599941Participant perspective on the recall-by-genotype research approach: a mixed-method embedded study with participants of the CHRIS study.Eur J Hum Genet2023
37535990Generation of human induced pluripotent stem cell line EURACi015-A from a patient affected by dilated cardiomyopathy carrying the Lamin A/C p.Glu161Lys mutation.2023
37290944Trends and symptoms of SARS-CoV-2 infection: a longitudinal study on an Alpine population representative sample.BMJ Open2023
34637685Prospective epidemiological, molecular, and genetic characterization of a novel coronavirus disease in the Val Venosta/Vinschgau: the CHRIS COVID-19 study protocol.Pathog Glob Health2022
35712781GCN5 contributes to intracellular lipid accumulation in human primary cardiac stromal cells from patients affected by Arrhythmogenic cardiomyopathy.J Cell Mol Med2022
35842725Crosstalk of organelles in Parkinson's disease - MiT family transcription factors as central players in signaling pathways connecting mitochondria and lysosomes.Molecular Neurodegeneration2022
35513611A genome on shaky ground: exploring the impact of mitochondrial DNA integrity on Parkinson's disease by highlighting the use of cybrid models.Cell Mol Life Sci2022
36361881Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in <i>SZT2</i> Gene.Int J Mol Sci2022
35697829Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals.Commun Biol2022
35952933Pain sensitivity is modulated by affective temperament: Results from the population-based CHRIS Affective Disorder (CHRIS-AD) study.J Affect Disord2022
35888728Whole Exome Sequencing Enhanced Imputation Identifies 85 Metabolite Associations in the Alpine CHRIS Cohort.Metabolites2022
35572147Functional Screening of Parkinson's Disease Susceptibility Genes to Identify Novel Modulators of α-Synuclein Neurotoxicity in <i>Caenorhabditis elegans</i>.Front Aging Neurosci2022
36083241What if I could become the doctor I always wanted to be?European Journal of Neurology2022
36064788Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process.Eur J Hum Genet2022
36050321Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.Nat Commun2022
35189566Generation of an induced pluripotent stem cell line (EURACi014-A) from a Parkinson's disease patient with an A53T mutation in the SNCA gene by an integration-free reprogramming method.Stem Cell Res2022
35121197Generation and characterization of induced pluripotent stem cell (iPSC) lines of two asymptomatic individuals carrying a heterozygous exon 7 deletion in Parkin (PRKN) and two non-carriers from the same family.Stem Cell Res2022
35323648Age, Sex, Body Mass Index, Diet and Menopause Related Metabolites in a Large Homogeneous Alpine Cohort.Metabolites2022
34645534Prevalence and determinants of serum antibodies to SARS-CoV-2 in the general population of the Gardena valley.Epidemiol Infect2021
34298432Generation and characterization of three human induced pluripotent stem cell lines (EURACi007-A, EURACi008-A, EURACi009-A) from three different individuals of the same family with arrhythmogenic cardiomyopathy (ACM) carrying the plakophillin2 p.N346Lfs*12Stem Cell Research2021
34241790Return of research results (RoRR) to the healthy CHRIS cohort: designing a policy with the participants.J Community Genet2021
33805952Metabolic Signature of Arrhythmogenic Cardiomyopathy.Metabolites2021
33895538Task matters - challenging the motor system allows distinguishing unaffected Parkin mutation carriers from mutation-free controls.Parkinsonism Relat Disord2021
33453124Association of mitochondrial DNA copy number with metabolic syndrome and type 2 diabetes in 14 176 individuals.J Intern Med2021
33561612Genetic variants in levodopa-induced dyskinesia (LID): A systematic review and meta-analysis.Parkinsonism Relat Disord2021
33558525Publisher Correction: Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.Nat Commun2021
33981014Balancing scientific interests and the rights of participants in designing a recall by genotype study.Eur J Hum Genet2021
32989287Genome-wide association study identifies 48 common genetic variants associated with handedness.Nat Hum Behav2021
33402679Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.Nat Commun2021
34409038Generation of hiPSC-Derived Functional Dopaminergic Neurons in Alginate-Based 3D Culture.Front Cell Dev Biol2021
34685691The SZT2 Interactome Unravels New Functions of the KICSTOR Complex.Cells2021
34627696Association between non-alcoholic fatty liver disease and impaired cardiac sympathetic/parasympathetic balance in subjects with and without type 2 diabetes-The Cooperative Health Research in South Tyrol (CHRIS)-NAFLD sub-study.Nutrition, Metabolism and Cardiovascular Diseases2021
34434164Frequency of Heterozygous Parkin (<i>PRKN</i>) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort.Front Neurol2021
34599261Exome-wide association study of levodopa-induced dyskinesia in Parkinson's disease.Sci Rep2021
31520399Highly Elevated Plasma γ-Glutamyltransferase Elevations: A Trait Caused by γ-Glutamyltransferase 1 Transmembrane Mutations.Hepatology2020
32471864Silencing of CCR4-NOT complex subunits affects heart structure and function.Dis Model Mech2020
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