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: Herta Zellner, Melanie A. Manning, Holger Prokisch, Natalia Gomez-Ospina, Georg F. Hoffmann, Johannes A. Mayr, Mirjana Gusic, Lucia Laugwitz, Susanne Morlot, Claudia Krahn-Peper, Thomas Meitinger, Andreas Wroblewski, Michaela Röblitz, Elisabeth Graf, Riccardo Berutti, Eva Bültmann, Tim M. Strom, Dorota Piekutowska-Abramczuk, Penelope E. Bonnen, René G. Feichtinger, Edda Haberlandt, Christine Makowski, Manting Xu, Ulrich A. Schatz, Anibh M. Das, Steffen Syrbe, Katharina Danhauser, Daniela Karall, Anna Kostera-Pruszczyk, Hans Hartmann, Tobias B. Haack, Rafał Płoski, Fang Fang, Maciej Pronicki, Bader Alhaddad, Reka Kovacs-Nagy

المصدر: The American Journal of Human Genetics. 103:817-825

مصطلحات موضوعية: Male, 0301 basic medicine, Ataxia, Adolescent, Cerebellar Ataxia, Glycoside Hydrolases, Developmental Disabilities, Biology, Nervous System Malformations, 03 medical and health sciences, ADP-Ribosylation, 0302 clinical medicine, PARP1, Report, Genetics, medicine, Humans, Exome, Viability assay, Allele, Child, Alleles, Genetics (clinical), Exome sequencing, Adenosine Diphosphate Ribose, Messenger RNA, Neurodegeneration, Infant, Neurodegenerative Diseases, medicine.disease, 030104 developmental biology, Child, Preschool, Mutation, Cancer research, Female, NAD+ kinase, medicine.symptom, Protein Processing, Post-Translational, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69de748641d7361a0dc57201bc80a18cTest
https://doi.org/10.1016/j.ajhg.2018.10.005Test

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: Małgorzata Dorobek, Mariusz Ołtarzewski, Ewa Bartnik, Edyta Szymańska, Aleksandra Głowacka, Anna Łusakowska, Elżbieta Ciara, Marta Lipowska, Krystyna H. Chrzanowska, Dorota Piekutowska-Abramczuk, Biruta Kierdaszuk, Katarzyna Tońska, Joanna Pera, Natalia Jurkowska, Jiri Zeman, Małgorzata Rydzanicz, Anna Sulek, Anna Kamińska, Karolina Langiewicz-Wojciechowska, Dariusz Chmielewski, Magdalena Kaliszewska, Marketa Tesarova, Bogdan Brodacki, Paweł Kowalski, Grzegorz Placha, Rafał Płoski, Ewa Jabłońska, Małgorzata Krajewska-Walasek, Joanna Trubicka, Anna Kostera-Pruszczyk, Agnieszka Bakuła, Ewa Pronicka, Dariusz Kuczyński

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Mitochondrial Diseases, Ataxia, Adolescent, Mitochondrial disease, Population, Mutation, Missense, Genes, Recessive, Biology, 03 medical and health sciences, 0302 clinical medicine, Epidemiology, medicine, Humans, Allele, Child, education, Molecular Biology, Allele frequency, Genetics, education.field_of_study, Infant, Newborn, Infant, Diffuse Cerebral Sclerosis of Schilder, Cell Biology, Middle Aged, medicine.disease, DNA Polymerase gamma, 030104 developmental biology, Amino Acid Substitution, Child, Preschool, Cohort, Molecular Medicine, Female, Poland, medicine.symptom, Age of onset, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d39a01306f49659e344165510d03ed2Test
https://ruj.uj.edu.pl/xmlui/handle/item/112814Test

المؤلفون: Anna Fidziańska, Pascal Richard, Ana Ferreiro, Bertrand Goudeau, Stéphanie Simon, Anna Kostera-Pruszczyk, Patrick Vicart

المصدر: Neuromuscular Disorders. 16:759-762

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Muscle Proteins, Biology, Cataract, Desmin, LMNA, Myofibrils, medicine, Humans, Myotilin, Connectin, Child, Muscle, Skeletal, Selenoproteins, Myopathy, Genetics (clinical), Hyaline, Genetics, Microfilament Proteins, alpha-Crystallin B Chain, Skeletal muscle, Lamin Type A, musculoskeletal system, medicine.disease, Congenital myopathy, Cytoskeletal Proteins, Polydactyly, Phenotype, medicine.anatomical_structure, Neurology, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Syndactyly, sense organs, Neurology (clinical), medicine.symptom, Dystrophin, Myopathies, Structural, Congenital

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6af0b5eaf2e7c7ec88d17067d2a22d51Test
https://doi.org/10.1016/j.nmd.2006.07.025Test

المؤلفون: Hanna Drac, Diane L. Sherman, Dagmara Kabzińska, Andrzej Kochański, Peter J. Brophy, Anna Kostera-Pruszczyk, Irena Hausmanowa-Petrusewicz

المصدر: Neurology. 66:745-747

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Disease, Biology, medicine.disease_cause, Exon, Degenerative disease, Sural Nerve, Charcot-Marie-Tooth Disease, medicine, Humans, Age of Onset, Child, Gene, Sequence Deletion, Genetics, Mutation, Genetic Carrier Screening, Membrane Proteins, Protein level, Exons, Anatomy, medicine.disease, Membrane protein, Neurology (clinical), Age of onset

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::517824767623d2ac37bf6116640c3464Test
https://doi.org/10.1212/01.wnl.0000201269.46071.35Test

المؤلفون: Alina T. Midro, Jonathan Baets, Anna Kostera-Pruszczyk, Velina Guergueltcheva, Dagmara Kabzińska, Barbara Ryniewicz, Vincent Timmerman, Ivailo Tournev, Andrzej Kochański, L. Baránková, Irena Hausmanowa-Petrusewicz, Magdalena Zimoń, Renata Posmyk, Peter De Jonghe, Stayko Sarafov, Pavel Seeman, Albena Jordanova, Halina Strugalska-Cynowska

المصدر: Neurogenetics

مصطلحات موضوعية: Adult, Male, Adolescent, Population, Nerve Tissue Proteins, Biology, Young Adult, Cellular and Molecular Neuroscience, Charcot-Marie-Tooth Disease, Genotype, Genetics, Humans, Age of Onset, Child, education, Genetic Association Studies, Genetics (clinical), education.field_of_study, Haplotype, Intracellular Signaling Peptides and Proteins, Proteins, Phenotype, Founder Effect, Human genetics, Europe, Eastern european, Genetic Loci, Child, Preschool, Mutation, Mutation (genetic algorithm), Female, Human medicine, Chromosomes, Human, Pair 8, Founder effect

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7239402a9784367d659ef9793ad1e977Test
https://hdl.handle.net/10067/831270151162165141Test

المؤلفون: Maria Jędrzejowska, Janusz Zimowski, Michał Milewski, Janina Borkowska, Irena Hausmanowa-Petrusewicz, Anna Kostera-Pruszczyk, Danuta Sielska, Marta Jurek

المصدر: Acta biochimica Polonica. 56(1)

مصطلحات موضوعية: Male, Adolescent, Genotype, SMN1, Gene mutation, Biology, General Biochemistry, Genetics and Molecular Biology, Muscular Atrophy, Spinal, Sex Factors, medicine, Humans, Child, Gene, Genetics, Infant, Newborn, Infant, Spinal muscular atrophy, medicine.disease, SMA, Phenotype, Survival of Motor Neuron 1 Protein, Neuronal Apoptosis-Inhibitory Protein, nervous system diseases, Child, Preschool, Female, NAIP, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eaed0c14e1345d97d734bbac2f0d2517Test
https://pubmed.ncbi.nlm.nih.gov/19287802Test

المؤلفون: Walenty M. Nyka, Maria Jędrzejowska, Janusz Zimowski, Michał Milewski, Jacek Zaremba, Janina Borkowska, Ewa Kostyk, Marta Jurek, Danuta Sielska, Irena Hausmanowa-Petrusewicz, Anna Kostera-Pruszczyk

المصدر: European journal of human genetics : EJHG. 16(8)

مصطلحات موضوعية: Adult, Male, Adolescent, Gene Dosage, Spinal Amyotrophy, Nerve Tissue Proteins, SMN1, Biology, Gene dosage, Asymptomatic, Muscular Atrophy, Spinal, Genetics, medicine, Humans, Child, Cyclic AMP Response Element-Binding Protein, Gene, Genetics (clinical), Cells, Cultured, Homozygote, Infant, RNA-Binding Proteins, SMN Complex Proteins, Fibroblasts, SMA, Phenotype, Survival of Motor Neuron 1 Protein, nervous system diseases, Pedigree, Survival of Motor Neuron 2 Protein, Female, medicine.symptom, Asymptomatic carrier

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37544091b8752fd73991b894e55729d9Test
https://pubmed.ncbi.nlm.nih.gov/18337729Test