المؤلفون: Marie Rivera-Zengotita, Alison M. Barnard, Sanna Puusepp, Anna Łusakowska, Ros Quinlivan, Margherita Milone, Isabelle Draper, Katherine R. Chao, Erica L. Macke, Mait Nigul, Teepu Siddique, Vijay S. Ganesh, Sander Pajusalu, Nicolas Deconinck, Sanna Gudmundsson, Masashi Ogasawara, Sandra Donkervoort, Christine C. Bruels, Glenn A. Walter, Ehsan Ghayoor Karimiani, Christina A. Pacak, Reza Maroofian, Sabine Costagliola, Julia K. Goodrich, Anne H. O’Donnell-Luria, Mehran Beiraghi Toosi, Sandra Coppens, Yao Meng, Lynn Pais, Henry Houlden, Eleina M. England, Rasha El Sherif, Anne Boland-Auge, Bertold Schrank, Volker Straub, Gisèle Bonne, Catheline Vilain, Payam Mohassel, Tanya Stojkovic, Isabelle Nelson, Ichizo Nishino, Stefan Nicolau, Anna Kostera-Pruszczyk, Ben Weisburd, Jean-François Deleuze, Enzo Cohen, Michael G. Hanna, Hazim Kadhim, Peter B. Kang, Dorianmarie Vargas-Franco, Penny A. Handford, Katrin Õunap, Pilvi Ilves, Ana Töpf, Carsten G. Bönnemann, Brendan C. Lanpher, Eric W. Klee, Andreas Hahn

المصدر: The American Journal of Human Genetics
Am J Hum Genet

مصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, Muscular Dystrophies, Myoblasts, Mice, 0302 clinical medicine, Drosophila Proteins, Muscular dystrophy, Child, Genetics (clinical), Genetics, Receptors, Notch, Myogenesis, Muscles, Middle Aged, Pedigree, Drosophila melanogaster, Phenotype, medicine.anatomical_structure, Glucosyltransferases, Child, Preschool, Female, Jagged-2 Protein, medicine.symptom, Signal Transduction, Adult, JAG2, JAG1, Adolescent, Notch signaling pathway, Biology, Article, Cell Line, Frameshift mutation, Young Adult, 03 medical and health sciences, Exome Sequencing, medicine, Animals, Humans, Amino Acid Sequence, Correction, Membrane Proteins, Muscle weakness, Skeletal muscle, medicine.disease, Human genetics, 030104 developmental biology, Haplotypes, Jagged-1 Protein, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de5cf77949f159f13e3db961570ab30bTest
https://doi.org/10.1016/j.ajhg.2021.03.020Test

المؤلفون: Anna Kostera-Pruszczyk, Joanna Rusecka, Joanna Kosińska, Ewa Bartnik, Biruta Kierdaszuk, Magdalena Kaliszewska, Katarzyna Tońska, Anna Kamińska

المصدر: Genes
Volume 12
Issue 1
Genes, Vol 12, Iss 54, p 54 (2021)

مصطلحات موضوعية: Male, 0301 basic medicine, Mitochondrial encephalomyopathy, Ophthalmoplegia, Chronic Progressive External, Mitochondrial Diseases, Gene Expression, Kearns-Sayre Syndrome, TWNK gene, 0302 clinical medicine, Cerebellum, Medicine, Child, Genetics (clinical), Sequence Deletion, Middle Aged, DNA Polymerase gamma, Mitochondria, Pedigree, Female, medicine.symptom, muscle biopsy, RNASEH1 gene, Adult, medicine.medical_specialty, Mitochondrial DNA, Adolescent, lcsh:QH426-470, Mitochondrial disease, Genetic counseling, Ribonuclease H, DNA, Mitochondrial, Article, Ophthalmoparesis, Diagnosis, Differential, Mitochondrial Proteins, multiple mitochondrial DNA deletions, 03 medical and health sciences, mitochondrial disorders, Mitochondrial Encephalomyopathies, POLG gene, Internal medicine, Genetics, Humans, Muscle, Skeletal, Cerebrum, Aged, Polymorphism, Genetic, business.industry, External ophthalmoplegia, DNA Helicases, medicine.disease, progressive external ophthalmoplegia, lcsh:Genetics, 030104 developmental biology, Poland, mitochondrial DNA deletions, business, Chronic progressive external ophthalmoplegia, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f5e9eb9fa21a47ae74a18085f3fdcc0Test

المؤلفون: Paul Maddison, L. Phillips, Anna Kostera-Pruszczyk, Anna Łusakowska, Ana Töpf, L. Xu, Daniel G. MacArthur, Marta Bertoli, Kristl G. Claeys, Monkol Lek, Ela Akay, Katherine Johnson, Alexandra Bastian, Volker Straub, Stojan Peric, Vidosava Rakocevic Stojanovic, Andreas Hahn

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-11 (2017)
Orphanet journal of rare diseases 12(1), 173 (2017). doi:10.1186/s13023-017-0722-1
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Weakness, Candidate gene, Adolescent, lcsh:Medicine, Biology, Compound heterozygosity, Bioinformatics, Sequence variants, Frameshift mutation, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, Glycogen storage disease type II, medicine, Humans, Pharmacology (medical), Child, Genetics (clinical), Exome sequencing, Aged, Aged, 80 and over, Muscle Weakness, Glycogen Storage Disease Type II, Genetic heterogeneity, Research, lcsh:R, Whole exome sequencing, Genetic Variation, Muscle weakness, Pompe disease, alpha-Glucosidases, General Medicine, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Child, Preschool, Female, medicine.symptom, 030217 neurology & neurosurgery

وصف الملف: Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11a5bb4bbf80ab971616404ecc7b297cTest
http://link.springer.com/article/10.1186/s13023-017-0722-1Test

المؤلفون: Michał Lower, Ewa Bartnik, Ewa Pronicka, Anna Łusakowska, Aneta Kaniak-Golik, Dorota Sabat, Anna Kamińska, Anna Kostera-Pruszczyk, Jakub Kruszewski, Dorota Lutyk, Magdalena Kaliszewska, Biruta Kierdaszuk, Joel Vizueta, Monika Nojszewska, Pawel Golik, Dorota Piekutowska-Abramczuk, Katarzyna Tońska

المصدر: Human Genetics

مصطلحات موضوعية: DNA Replication, Male, Models, Molecular, Mitochondrial DNA, Mitochondrial Diseases, Saccharomyces cerevisiae Proteins, Adolescent, DNA polymerase, Mitochondrial disease, Molecular Sequence Data, DNA-Directed DNA Polymerase, Saccharomyces cerevisiae, DNA, Mitochondrial, medicine, Genetics, Humans, Point Mutation, Genetics(clinical), Amino Acid Sequence, Allele, Cloning, Molecular, Gene, Genetics (clinical), Alleles, Dominance (genetics), Original Investigation, biology, Point mutation, DNA replication, Infant, Middle Aged, medicine.disease, DNA Polymerase I, Molecular biology, Mitochondria, Pedigree, Phenotype, Child, Preschool, biology.protein, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c480f15fcf565572ab756c31ea951413Test