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المؤلفون: Martina Živná, Kendrah O. Kidd, Veronika Barešová, Helena Hůlková, Stanislav Kmoch, Anthony J. Bleyer
المصدر: American Journal of Medical Genetics: Part C, Seminars in Medical Genetics 190(3), 309-324. (2022)
مصطلحات موضوعية: Adult, MUC1, Autosomal Dominant Tubulointerstitial Kidney Disease, Middle Aged, UMOD, Young Adult, REN, Uromodulin, Mutation, Genetics, Humans, Genetic Testing, Renal Insufficiency, Chronic, Genetics (clinical), Aged
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d214d3cd813bbb96518c22302edc309
https://pubmed.ncbi.nlm.nih.gov/36250282 -
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المؤلفون: Martina Živná, Gabriela Dostálová, Veronika Barešová, Dita Mušálková, Ladislav Kuchař, Befekadu Asfaw, Helena Poupětová, Hana Vlášková, Tereza Kmochová, Petr Vyletal, Hana Hartmannová, Kateřina Hodaňová, Viktor Stránecký, Lenka Steiner-Mrázová, Aleš Hnízda, Martin Radina, Miroslav Votruba, Jana Sovová, Helena Trešlová, Larisa Stolnaja, Petra Reková, Lenka Roblová, Eva Honsová, Helena Hůlková, Ivan Rychlík, Anthony J. Bleyer, Aleš Linhart, Jakub Sikora, Stanislav Kmoch
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3ede51a9102b69783bdeaf4b7f83cc9
https://hdl.handle.net/20.500.14178/1711 -
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المؤلفون: Helena Hůlková, Viktor Kožich, Tomas Majtan, Jakub Krijt, Insun Park, Erez M. Bublil
المصدر: Human Mutation. 41:1662-1670
مصطلحات موضوعية: Male, medicine.medical_specialty, Homocysteine, Homocystinuria, Biology, Asymptomatic, Mice, 03 medical and health sciences, Liver disease, chemistry.chemical_compound, Internal medicine, Genetics, medicine, Animals, Enzyme Replacement Therapy, Genetics (clinical), 030304 developmental biology, Mice, Knockout, 0303 health sciences, Liver Diseases, 030305 genetics & heredity, Enzyme replacement therapy, medicine.disease, Cystathionine beta synthase, Disease Models, Animal, Endocrinology, Liver, chemistry, Inborn error of metabolism, biology.protein, Female, Steatosis, medicine.symptom
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المؤلفون: Veronika Baresova, Miroslav Votruba, Kálmán Tory, Aleš Hnízda, Jakub Sikora, Matthias T.F. Wolf, Marisa Santostefano, Neila Belghith, Lídia Balogh, Jan Živný, Tal Kopel, Robert M. Haws, Bertrand Knebelmann, Andrea Wenzel, Bodo B. Beck, Lawrence R. Shoemaker, Laurent Mesnard, Anna Jakubowska, Kendrah Kidd, Charles Shaw-Smith, Christoforos Stavrou, Mayssa Abdelwahed, Constantinos Deltas, John A. Sayer, Claudio Graziano, Rhian L Clissold, Petr Vyleťal, Stanislav Kmoch, Victoria Robins, Howard Trachtman, Michael E. Bleyer, Marie Matignon, Anthony J. Bleyer, Kathleen Claes, Jana Sovová, Irene Capelli, Philippe Grimbert, Sharon M. Moe, Luca Rampoldi, Ivana Jedličková, Karsten Häeffner, Stéphane Decramer, Kateřina Hodaňová, Helena Trešlová, Matthew R. Sinclair, Raj Munshi, Gregory Papagregoriou, Hana Hartmannová, Albert C.M. Ong, Mohamad Zaidan, Agnieszka Łaszkiewicz, Amy N. Sussman, Claudia Izzi, Martina Živná, Helena Hůlková, Francesco Scolari
المساهمون: Živná, M, Kidd, K, Zaidan, M, Vyleťal, P, Barešová, V, Hodaňová, K, Sovová, J, Hartmannová, H, Votruba, M, Trešlová, H, Jedličková, I, Sikora, J, Hůlková, H, Robins, V, Hnízda, A, Živný, J, Papagregoriou, G, Mesnard, L, Beck, Bb, Wenzel, A, Tory, K, Häeffner, K, Wolf, Mtf, Bleyer, Me, Sayer, Ja, Ong, Acm, Balogh, L, Jakubowska, A, Łaszkiewicz, A, Clissold, R, Shaw-Smith, C, Munshi, R, Haws, Rm, Izzi, C, Capelli, I, Santostefano, M, Graziano, C, Scolari, F, Sussman, A, Trachtman, H, Decramer, S, Matignon, M, Grimbert, P, Shoemaker, Lr, Stavrou, C, Abdelwahed, M, Belghith, N, Sinclair, M, Claes, K, Kopel, T, Moe, S, Deltas, C, Knebelmann, B, Rampoldi, L, Kmoch, S, Bleyer, Aj
المصدر: Kidney international. 98(6)
مصطلحات موضوعية: 0301 basic medicine, Signal peptide, Adult, Male, medicine.medical_specialty, Mutant, 030232 urology & nephrology, Chromosomal translocation, autosomal dominant tubulointerstitial kidney disease, characterization, mutation, prosegment, renin, signal peptide, medicine.disease_cause, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, Renin–angiotensin system, Renin, medicine, Humans, Secretion, Child, Mutation, Polycystic Kidney Diseases, business.industry, Endoplasmic reticulum, Anemia, medicine.disease, 030104 developmental biology, Endocrinology, Nephrology, Female, business, Kidney disease
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43a3f233cbb9fbd3984ddb55fbd2a59a
https://pubmed.ncbi.nlm.nih.gov/33276865 -
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المؤلفون: Martina Živná, Helena Hůlková, Kisra Anis, Belinda Jim, Anthony J. Bleyer, Samuel Mon-Wei Yu, Leal Herlitz, Glen S. Markowitz
المصدر: American Journal of Kidney Diseases. 71:495-500
مصطلحات موضوعية: Adult, 0301 basic medicine, Pathology, medicine.medical_specialty, Biopsy, Genetic counseling, DNA Mutational Analysis, 030232 urology & nephrology, Renal function, Disease, Kidney, Medullary cystic kidney disease, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Ultrasonography, Genetic testing, medicine.diagnostic_test, urogenital system, business.industry, Mucin-1, DNA, Polycystic Kidney, Autosomal Dominant, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Nephrology, Mutation, Female, business, Kidney disease
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المؤلفون: Stanislav Kmoch, Petr Vyleťal, Veronika Baresova, Hana Hartmannová, Martina Zivna, Katerina Hodaňová, Kendrah Kidd, Anthony J. Bleyer, Jana Sovová, Ivana Jedličková, Viktor Stránecký, Helena Hůlková
المصدر: Nephrology Dialysis Transplantation. 34
مصطلحات موضوعية: Transplantation, Secretory protein, Nephrology, business.industry, Mechanism (biology), Medicine, business, medicine.disease, Biogenesis, Cell biology, Kidney disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ba53bbf22d783ceae88a48a012c873eb
https://doi.org/10.1093/ndt/gfz103.sp025 -
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المؤلفون: Stanislav Kmoch, Petr Vyleťal, Frederick Andermann, Jakub Sikora, Lenka Nosková, Dita Musalkova, Jana Sovová, Viktor Stránecký, Anna Přistoupilová, Ivana Jedličková, Kateřina Hodaňová, Helena Hůlková, Hana Hartmannová, Patrick Cossette, Maxime Cadieux-Dion, Eva Andermann, Veronika Baresova
المصدر: Eur J Hum Genet
مصطلحات موضوعية: Adult, Male, Biology, Article, law.invention, Cell Line, symbols.namesake, Mice, law, Neuronal Ceroid-Lipofuscinoses, Gene Duplication, Gene duplication, Genetics, medicine, Animals, Humans, Genetic Testing, Allele, Kufs disease, Gene, False Negative Reactions, Genetics (clinical), Polymerase chain reaction, Exome sequencing, Sanger sequencing, Neurons, Whole Genome Sequencing, Membrane Proteins, HSP40 Heat-Shock Proteins, Middle Aged, medicine.disease, Protein Transport, symbols, DNAJC5, Female, Protein Processing, Post-Translational
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المؤلفون: Tomas Majtan, Erez M. Bublil, Insun Park, Jan P. Kraus, Viktor Kožich, Helena Hůlková, Jakub Krijt
مصطلحات موضوعية: 0301 basic medicine, Male, Homocysteine, Metabolite, Biochemistry, chemistry.chemical_compound, Liver disease, Mice, 0302 clinical medicine, Mice, Knockout, biology, Liver Diseases, Recombinant Proteins, Liver, Body Composition, Medicine, Female, Homocystinuria, Biotechnology, 60107 Enzymes, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, 60199 Biochemistry and Cell Biology not elsewhere classified, Cystathionine beta-Synthase, 03 medical and health sciences, Internal medicine, medicine, Genetics, Animals, Molecular Biology, Pharmacology, business.industry, Endoplasmic reticulum, Research, nutritional and metabolic diseases, medicine.disease, Cystathionine beta synthase, Fatty Liver, Disease Models, Animal, 030104 developmental biology, Endocrinology, chemistry, FOS: Biological sciences, biology.protein, Osteoporosis, Steatosis, business, 030217 neurology & neurosurgery, Cysteine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea841549e33c4713f7ec2bf7c5446868
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المؤلفون: Viktor Kožich, Jan P. Kraus, Tomas Majtan, Insun Park, Richard S. Carrillo, Helena Hůlková, Erez M. Bublil, Jakub Krijt
المصدر: Journal of Clinical Investigation. 126:2372-2384
مصطلحات موضوعية: inorganic chemicals, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Homocysteine, Homocystinuria, Serine, 03 medical and health sciences, chemistry.chemical_compound, Internal medicine, medicine, chemistry.chemical_classification, Methionine, biology, nutritional and metabolic diseases, General Medicine, Enzyme replacement therapy, medicine.disease, Cystathionine beta synthase, 030104 developmental biology, Endocrinology, Enzyme, Biochemistry, chemistry, biology.protein, Cysteine
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المؤلفون: Chantal Ceuterick-de Groote, Anne Sieben, Samuel F. Berkovic, Helena Hůlková, Radoslav Matej, Christine Van Broeckhoven, Patrick Santens, Bart Dermaut, Anna Pristoupilova, Sara Van Mossevelde, Stanislav Kmoch, Jelle van den Ameele, Alfred Meurs, Ivana Jedličková
المساهمون: Neuroprotection & Neuromodulation, Van Den Ameele, Jelle [0000-0002-2744-0810], Apollo - University of Cambridge Repository
المصدر: Neurology
مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Pediatrics, medicine.medical_specialty, Clinical Neurology, Progressive myoclonus epilepsy, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, medicine, Dementia, Humans, Family, Genetic Predisposition to Disease, Age of Onset, DNA Repeat Expansion, C9orf72 Protein, business.industry, Brain, Frontotemporal lobar degeneration, Middle Aged, medicine.disease, Myoclonic Epilepsies, Progressive, Pedigree, 030104 developmental biology, Phenotype, Female, Neurology (clinical), Human medicine, medicine.symptom, Age of onset, business, Myoclonus, 030217 neurology & neurosurgery, Frontotemporal dementia
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3a9961715aec7434c9a4ea72d7d4bc4
https://hdl.handle.net/20.500.14017/ed55d44c-b96b-4da8-9d65-0b9e465285b4