المؤلفون: Valentina Gilmozzi, Giovanna Gentile, Diana A. Riekschnitz, Claudia B. Volpato, Marina Di Segni, Rosamaria Silipigni, Peter P. Pramstaller, Andrew A. Hicks, Irene Pichler, Alessandra Zanon

المصدر: Stem Cell Research, Vol 60, Iss , Pp 102713- (2022)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506122000629; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/8c44327ede0144fa83cabfb5920bfc8a

المؤلفون: Benedetta Ermon, Claudia B. Volpato, Giada Cattelan, Rosamaria Silipigni, Marina Di Segni, Chiara Cantaloni, Michela Casella, Peter P. Pramstaller, Giulio Pompilio, Elena Sommariva, Viviana Meraviglia, Alessandra Rossini

المصدر: Stem Cell Research, Vol 32, Iss , Pp 78-82 (2018)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506118302241; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/8bb11ce4299e44879ecaf8ca8701780a

المؤلفون: Lisa Elmén, Claudia B. Volpato, Anaïs Kervadec, Santiago Pineda, Sreehari Kalvakuri, Nakissa N. Alayari, Luisa Foco, Peter P. Pramstaller, Karen Ocorr, Alessandra Rossini, Anthony Cammarato, Alexandre R. Colas, Andrew A. Hicks, Rolf Bodmer

المصدر: Disease Models & Mechanisms, Vol 13, Iss 7 (2020)

مصطلحات موضوعية: cnot1, gwas, arrhythmia, long-qt syndrome, drosophila heart, hipsc, cardiomyocytes, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/13/7/dmm044727; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/111907e034e04c50a593fa2c9ad5841c

المؤلفون: Valentina Gilmozzi, Giovanna Gentile, Diana A. Riekschnitz, Claudia B. Volpato, Marina Di Segni, Rosamaria Silipigni, Peter P. Pramstaller, Andrew A. Hicks, Irene Pichler, Alessandra Zanon

المصدر: Stem cell research. 60

مصطلحات موضوعية: Induced Pluripotent Stem Cells, Mutation, Mutation, Missense, alpha-Synuclein, Humans, Parkinson Disease, Cell Biology, General Medicine, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0219ce13148f13f31b4146e528dfd86
https://pubmed.ncbi.nlm.nih.gov/35189566

المؤلفون: Chiara Cantaloni, Viviana Meraviglia, Giada Cattelan, Giulio Pompilio, Marina Di Segni, Michela Casella, Alessandra Rossini, Benedetta Ermon, Peter P. Pramstaller, Claudia B. Volpato, Elena Sommariva, Rosamaria Silipigni

المصدر: Stem Cell Research, Vol 32, Iss, Pp 78-82 (2018)
Stem Cell Research

مصطلحات موضوعية: 0301 basic medicine, Heterozygote, Induced Pluripotent Stem Cells, Cardiomyopathy, 030204 cardiovascular system & hematology, Biology, medicine.disease_cause, Article, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Induced pluripotent stem cell, lcsh:QH301-705.5, Gene, Cells, Cultured, Skin, Mutation, Arrhythmias, Cardiac, Cell Differentiation, Karyotype, Cell Biology, General Medicine, Fibroblasts, medicine.disease, 030104 developmental biology, lcsh:Biology (General), Cancer research, Cardiomyopathies, Plakophilins, Reprogramming, Ipsc line, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c7f7a05be508bf621a118bae8ed0864
https://doi.org/10.1016/j.scr.2018.09.003

المؤلفون: Marzia De Bortoli, Nikola Dordevic, David B. Emmert, Vladimir Vukovic, Luisa Foco, Deborah Mascalzoni, Francisco S. Domingues, Johannes Rainer, Rupert Paulmichl, Peter P. Pramstaller, Alessandra Rossini, Vinicius Veri Hernandes, Christian X. Weichenberger, Cristian Pattaro, Chiara Losi, Claudia B. Volpato, Martin Gögele, Christian Fuchsberger, Yuri D’Elia, Giulia Pontali

المصدر: Biomolecules
Volume 11
Issue 11
Biomolecules, Vol 11, Iss 1663, p 1663 (2021)

مصطلحات موضوعية: Population, Genome-wide association study, Single-nucleotide polymorphism, Biology, Biochemistry, Microbiology, Polymorphism, Single Nucleotide, Article, symbols.namesake, Genotype, Humans, GWAS, Cooperative Health Research in South Tyrol, Genetic Predisposition to Disease, atrial fibrillation, rare alleles, Cardiac and Cardiovascular Systems, Allele, education, Molecular Biology, Gene, Medicinsk genetik, Genetics, Sanger sequencing, education.field_of_study, Kardiologi, Family aggregation, Middle Aged, metabolomics, QR1-502, familial aggregation, symbols, Medical Genetics, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdcd1d2a6ac13282603de2fcfb9e9cc8
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-461974

المؤلفون: Anaïs Kervadec, Karen Ocorr, Sreehari Kalvakuri, Rolf Bodmer, Santiago Pineda, Andrew A. Hicks, Claudia B. Volpato, Anthony Cammarato, Lisa Elmén, Peter P. Pramstaller, Nakissa N. Alayari, Alexandre R. Colas, Luisa Foco, Alessandra Rossini

المصدر: Disease Models & Mechanisms
article-version (VoR) Version of Record
Disease Models & Mechanisms, Vol 13, Iss 7 (2020)

مصطلحات موضوعية: 0301 basic medicine, Medicine (miscellaneous), lcsh:Medicine, Action Potentials, 030204 cardiovascular system & hematology, Long-QT syndrome, hiPSC, Animals, Genetically Modified, 0302 clinical medicine, Immunology and Microbiology (miscellaneous), Heart Rate, Drosophila heart, Gene expression, Morphogenesis, Drosophila Proteins, GWAS, Myocytes, Cardiac, Cardiomyocytes, Gene knockdown, Heart development, Intracellular Signaling Peptides and Proteins, Gene Expression Regulation, Developmental, RNA-Binding Proteins, Cell biology, Long QT Syndrome, Drosophila melanogaster, Arrhythmia, lcsh:RB1-214, Research Article, Induced Pluripotent Stem Cells, Neuroscience (miscellaneous), Biology, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Ribonucleases, CCR4-NOT complex, lcsh:Pathology, Gene silencing, Animals, Humans, Gene Silencing, Gene, Cell Proliferation, Messenger RNA, lcsh:R, Promoter, Dros, Repressor Proteins, 030104 developmental biology, Exoribonucleases, CNOT1, Genome-Wide Association Study, HeLa Cells, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deab6cf2ced067430a1ffaab85eccf26
https://pubmed.ncbi.nlm.nih.gov/32471864

المؤلفون: Rosamaria Silipigni, Peter P. Pramstaller, Diana A Riekschnitz, Michael von Troyer, Irene Pichler, Alessandra Zanon, Marina Di Segni, Chiara Cantaloni, Anne Picard, Claudia B. Volpato, Andrew A. Hicks

المصدر: Stem Cell Research, Vol 41, Iss, Pp-(2019)

مصطلحات موضوعية: 0301 basic medicine, Parkinson's disease, Ubiquitin-Protein Ligases, Induced Pluripotent Stem Cells, Cell Culture Techniques, Germ layer, Biology, Parkin, Cell Line, 03 medical and health sciences, Exon, 0302 clinical medicine, Plasmid, medicine, Humans, Induced pluripotent stem cell, Gene, lcsh:QH301-705.5, Sequence Deletion, Base Sequence, Homozygote, Reproducibility of Results, Parkinson Disease, Cell Biology, General Medicine, Exons, medicine.disease, 030104 developmental biology, lcsh:Biology (General), Cell culture, Cancer research, Female, 030217 neurology & neurosurgery, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46252a1aae0054810764de39aa62cf18
http://www.sciencedirect.com/science/article/pii/S1873506119302545

المؤلفون: Gianluca Casara, Francesco Benedicenti, Andrew A. Hicks, André Heimbach, Francisco S. Domingues, Peter Lackner, Anne Picard, Lucio Parmeggiani, Per Hoffmann, Claudia B. Volpato, Deborah Mascalzoni, Christine Schwienbacher, Franco Stanzial, Eva König, Peter P. Pramstaller, Chiara Cantaloni, Serena Pellegrin

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Epileptic and developmental encephalopathies, DNA Mutational Analysis, Intellectual disability, Nerve Tissue Proteins, Compound heterozygosity, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, Intellectual Disability, Exome Sequencing, medicine, Humans, Expressivity (genetics), Longitudinal Studies, Young adult, Exome sequencing, Family Health, business.industry, Macrocephaly, Whole exome sequencing, General Medicine, medicine.disease, Phenotype, Magnetic Resonance Imaging, Megalencephaly, Neurology, Mutation, SZT2, Neurology (clinical), mTORopathies, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6f207dd0845127c31e2b6a3465469c9
https://eplus.uni-salzburg.at/doi/10.1016/j.seizure.2018.12.021

المؤلفون: Christine Klein, Daniel Alvarez-Fischer, Aloysius Domingo, Andrew A. Hicks, Günther Schifferle, Ana Westenberger, Peter P. Pramstaller, Zbigniew K. Wszolek, Rosa Rademakers, Andreas Ferbert, Karen Grütz, Uwe Gebert, Claudia B. Volpato, Ebba Buffone

المصدر: Movement Disorders. 31:1901-1904

مصطلحات موضوعية: 0301 basic medicine, Linkage (software), Mutation, Pathology, medicine.medical_specialty, PDGFB, Basal ganglia calcification, Biology, medicine.disease, Bioinformatics, medicine.disease_cause, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Neuroimaging, medicine, Neurology (clinical), 030217 neurology & neurosurgery, Research data, Calcification

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f6077ff49d1d47f65d665d334566866e
https://doi.org/10.1002/mds.26768