المؤلفون: Poorya Amini, Darko Stojkov, Andrea Felser, Christopher B. Jackson, Carolina Courage, André Schaller, Laurent Gelman, Maria Eugenia Soriano, Jean-Marc Nuoffer, Luca Scorrano, Charaf Benarafa, Shida Yousefi, Hans-Uwe Simon

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-16 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/d6d65756387f4a38a5e16d6f0ce5f658

المؤلفون: Katja Sonntag, Hisayoshi Hashimoto, Matthias Eyrich, Moritz Menzel, Max Schubach, Dennis Döcker, Florian Battke, Carolina Courage, Helmut Lambertz, Rupert Handgretinger, Saskia Biskup, Karin Schilbach

المصدر: Journal of Translational Medicine, Vol 16, Iss 1, Pp 1-13 (2018)

مصطلحات موضوعية: Pancreatic carcinoma, Therapeutic vaccines, Neoepitope-derived peptides, T-cell responses, CDR3 sequences, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12967-018-1382-1; https://doaj.org/toc/1479-5876

URL الوصول: https://doaj.org/article/6a7d75ac51884234b96f8df8645ef5f5

المؤلفون: Carolina Courage, Udo Koehler, Stephanie Kleinle, Teresa Neuhann, Elke Holinski-Feder, Angela Abicht

المصدر: Gynäkologische Endokrinologie. 20:116-124

مصطلحات موضوعية: Reproductive Medicine, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::11673f587036bf3bb4f86080c6bd4130
https://doi.org/10.1007/s10304-021-00434-2

المؤلفون: Ilona Krey, Marcel Frömming, Steffen Syrbe, Sarah Weckhuysen, Johannes R. Lemke, Carolina Courage, Skadi Beblo, Julia Herrmann, Rikke S. Møller, Constanze Heine

المصدر: Krey, I, Heine, C, Frömming, M, Herrmann, J, Møller, R S, Weckhuysen, S, Courage, C, Beblo, S, Syrbe, S & Lemke, J R 2021, ' The Angelman Syndrome Online Registry : A multilingual approach to support global research ', European Journal of Medical Genetics, vol. 64, no. 12, 104349 . https://doi.org/10.1016/j.ejmg.2021.104349
European journal of medical genetics

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Genotype-phenotype correlation, Adolescent, Longitudinal data, Turkish, Natural history, Polylingual, German, Danish, Young Adult, Germany, Angelman syndrome, Genetics, medicine, Humans, Registries, Child, Genetics (clinical), Aged, Aged, 80 and over, Infant, Genetic data, General Medicine, Middle Aged, medicine.disease, Research Personnel, language.human_language, Identification (information), Italy, Child, Preschool, Family medicine, language, Female, User-friendly registry, Human medicine, Angelman Syndrome, Psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87dec83f67fcf1351408396aa8b30a63
https://portal.findresearcher.sdu.dk/da/publications/62f77451-cbc3-4def-809b-87b99760a729

المؤلفون: Edoardo Ferlazzo, Laura Licchetta, Alessandro Filla, Samuel F. Berkovic, Roberto Michelucci, Paolo Tinuper, Martina Fanella, Silvana Franceschetti, Anna Teresa Giallonardo, Carolina Courage, Federico Zara, Antonio Gambardella, Teresa Anna Cantisani, Patrizia Riguzzi, Barbara Castellotti, Cinzia Gellera, Pasquale Striano, Carlo Di Bonaventura, Tiziana Granata, Melanie Bahlo, Laura Canafoglia, Karen Oliver, Angela La Neve, Anna-Elina Lehesjoki, Adriana Magaudda

المساهمون: HUSLAB, Medicum, Department of Medical and Clinical Genetics, Canafoglia L., Franceschetti S., Gambardella A., Striano P., Giallonardo A.T., Tinuper P., Di Bonaventura C., Michelucci R., Ferlazzo E., Granata T., Magaudda A., Licchetta L., Filla A., la Neve A., Riguzzi P., Cantisani T.A., Fanella M., Castellotti B., Gellera C., Bahlo M., Zara F., Courage C., Lehesjoki A.-E., Oliver K.L., Berkovic S.F.

المصدر: Neurology: Genetics
article-version (Version of Record) 3

مصطلحات موضوعية: Biology, DNA sequencing, 3124 Neurology and psychiatry, Article, 03 medical and health sciences, 0302 clinical medicine, medicine, Sibling, Gene, myoclonus epilepsy, Genetics (clinical), 030304 developmental biology, Genetic testing, Genetics, 0303 health sciences, medicine.diagnostic_test, 3112 Neurosciences, next generation sequency, Disease gene identification, 3. Good health, CHD2, 3121 General medicine, internal medicine and other clinical medicine, Epilepsy syndromes, Neurology (clinical), medicine.symptom, Myoclonus, 030217 neurology & neurosurgery

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9531c8a22904cfbaddb779c16def951
http://europepmc.org/articles/PMC8589262

المؤلفون: Laura C, Bott, Mitra, Forouhan, Maria, Lieto, Ambre J, Sala, Ruth, Ellerington, Janel O, Johnson, Alfina A, Speciale, Chiara, Criscuolo, Alessandro, Filla, David, Chitayat, Ebba, Alkhunaizi, Patrick, Shannon, Andrea H, Nemeth, Francesco, Angelucci, Wooi Fang, Lim, Pasquale, Striano, Federico, Zara, Ingo, Helbig, Mikko, Muona, Carolina, Courage, Anna-Elina, Lehesjoki, Samuel F, Berkovic, Kenneth H, Fischbeck, Francesco, Brancati, Richard I, Morimoto, Matthew J A, Wood, Carlo, Rinaldi

المصدر: Brain Communications

مصطلحات موضوعية: epileptic encephalopathy, AcademicSubjects/SCI01870, Caenorhabditis elegans disease modelling, organelle acidification, lysosomal disease, Original Article, AcademicSubjects/MED00310, V-ATPase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c69fb35ad9f16181b3dd40f48804d40f
https://pubmed.ncbi.nlm.nih.gov/34909687

المؤلفون: Wooi F. Lim, Richard I. Morimoto, Kenneth H. Fischbeck, Carolina Courage, Forouhan M, Ingo Helbig, Janel O. Johnson, Angelucci F, Laura C. Bott, Ruth Ellerington, Federico Zara, Maria Lieto, Francesco Brancati, Nemeth Ah, Mikko Muona, Matthew J.A. Wood, Pasquale Striano, Alfina A Speciale, Chiara Criscuolo, David Chitayat, Ambre Sala, Samuel F. Berkovic, A. Filla, Carlo Rinaldi, A E Lehesjoki

مصطلحات موضوعية: Genetics, 0303 health sciences, Mutation, Ataxia, Endosome, Autophagy, Progressive myoclonus epilepsy, Biology, medicine.disease_cause, medicine.disease, Phenotype, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, medicine, Missense mutation, medicine.symptom, 030217 neurology & neurosurgery, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::18dddc04cd85202f8a01172ada191fa0
https://doi.org/10.1101/2021.06.01.21257500

المؤلفون: Anna-Elina Lehesjoki, Nicolas Chatron, Samuel F. Berkovic, Betül Baykan, Giuseppe Borsani, Francis Ramond, Nerses Bebek, Karen Oliver, Renaud Touraine, Melanie Bahlo, Eudeline Alix, Mikko Muona, Carolina Courage, Gaetan Lesca, Laure Mazzola, Tarja Joensuu, Audrey Labalme

المساهمون: Medicum, University of Helsinki, HUSLAB

مصطلحات موضوعية: Male, 0301 basic medicine, Exome sequencing, DNA, Complementary, Adolescent, Blotting, Western, Progressive myoclonus epilepsy, Biology, progressive myoclonus epilepsy, 3124 Neurology and psychiatry, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Loss of Function Mutation, Complementary DNA, medicine, Humans, Cognitive Dysfunction, Child, Exome sequencing, progressive myoclonus epilepsy, Genetics, Reverse Transcriptase Polymerase Chain Reaction, Homozygote, Haplotype, 3112 Neurosciences, Brain, Electroencephalography, Myoclonic Epilepsies, Progressive, medicine.disease, Magnetic Resonance Imaging, Pedigree, 030104 developmental biology, Neurology, RNA splicing, Ataxia, Female, Human genome, RNA Splice Sites, Neurology (clinical), Atrophy, 030217 neurology & neurosurgery, Peptide Hydrolases, Founder effect

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e19933dcdceb2437fb9c882994a3d32
http://hdl.handle.net/11379/535982

المؤلفون: Leanne M. Dibbens, Anna-Elina Lehesjoki, Roberto Michelucci, Aarno Palotie, Barbara Castellotti, Jillian M. Cameron, Amos D. Korczyn, Loretta Giuliano, Davide Uccellini, Alessandro Filla, Edith Said, Karen Oliver, Zaid Afawi, William C. Sessa, Hui Bein Chew, Silvana Franceschetti, Carlo Di Bonaventura, Eva Andermann, Anna Teresa Giallonardo, Angelo Labate, Samuel F. Berkovic, Betül Baykan, Kariona A. Grabińska, Carolina Courage, Patrizia Riguzzi, Melanie Bahlo, Antonio Gambardella, John A. Damiano, Laura Canafoglia, Tarja Joensuu, Pasquale Striano, Christopher B. Jackson, Mikko Muona, Christian Brandt, Chiara Criscuolo, Sara Kivity, Eon Joo Park, Ingrid E. Scheffer, Géza Berecki

المساهمون: HUSLAB, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, Research Programs Unit, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, Helsinki Institute of Life Science HiLIFE, Courage, Carolina, Oliver, Karen L, Park, Eon Joo, Cameron, Jillian M, Dibbens, Leanne M, Lehesjoki, Anna Elina

المصدر: Am J Hum Genet

مصطلحات موضوعية: 0301 basic medicine, Male, Glycosylation, medicine.disease_cause, Whole Exome Sequencing, Cohort Studies, 0302 clinical medicine, Dolichols, whole-exome sequencing, Age of Onset, Child, Genetics (clinical), Exome sequencing, Genetics, Mutation, 1184 Genetics, developmental biology, physiology, dolichol-dependent glycosylation, Middle Aged, 3. Good health, Child, Preschool, ASAH1, Female, medicine.symptom, Adult, Adolescent, DNA Copy Number Variations, Progressive myoclonus epilepsy, Biology, progressive myoclonus epilepsy, Article, 03 medical and health sciences, Young Adult, Progressive, Myoclonic Epilepsies, Exome Sequencing, medicine, Humans, epilepsy genetics, Preschool, Gene, Genetic heterogeneity, Intron, Introns, Myoclonic Epilepsies, Progressive, medicine.disease, 030104 developmental biology, 3111 Biomedicine, Myoclonus, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f932a416de210b04bfdbaee703d7f1d
https://pubmed.ncbi.nlm.nih.gov/33798445

المؤلفون: Henna Tyynismaa, Anni Laari, Anna-Elina Lehesjoki, Viivi Nevanlinna, Anna-Kaisa Anttonen, Taru Hilander, Leena Valanne, Mikko Muona, Svetlana Konovalova, Katarin Gorski, Berten Ceulemans, Carolina Courage

المساهمون: Centre of Excellence in Stem Cell Metabolism, STEMM - Stem Cells and Metabolism Research Program, Henna Tyynismaa / Principal Investigator, University of Helsinki, Research Programs Unit, Molecular and Integrative Biosciences Research Programme, Department of Medical and Clinical Genetics, Medicum, HUS Medical Imaging Center, Department of Diagnostics and Therapeutics, HUSLAB, Anna-Elina Lehesjoki / Principal Investigator, Neuroscience Center, Helsinki Institute of Life Science HiLIFE, Mitochondrial Morphogenesis

المصدر: European journal of medical genetics

مصطلحات موضوعية: Proband, Male, Pathology, Microcephaly, Brain Edema, 0302 clinical medicine, Cerebellum, PEHO syndrome, Pontocerebellar hypoplasia type 6, Frameshift Mutation, Genetics (clinical), 0303 health sciences, TBCD, 1184 Genetics, developmental biology, physiology, Nuclear Proteins, Neurodegenerative Diseases, Progressive cerebellar and cerebral atrophy, General Medicine, Arginine-tRNA Ligase, Magnetic Resonance Imaging, Hypsarrhythmia, Hypotonia, 3. Good health, Phenotype, Olivopontocerebellar Atrophies, Muscle Hypotonia, Cerebellar atrophy, medicine.symptom, Spasms, Infantile, medicine.medical_specialty, PROGRESSIVE ENCEPHALOPATHY, Pontocerebellar hypoplasia, Mutation, Missense, RARS2, 03 medical and health sciences, Atrophy, Seizures, Intellectual Disability, Genetics, medicine, Humans, Alleles, 030304 developmental biology, Epilepsy, business.industry, OPTIC ATROPHY, Infant, EDEMA, medicine.disease, Human medicine, 3111 Biomedicine, business, 030217 neurology & neurosurgery, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86f764ed80cb1e48bcbf37619591222c
http://hdl.handle.net/10138/326958