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1
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 Genetمصطلحات 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 -
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المؤلفون: Priya S. Kishnani, Jordi Díaz-Manera, Hani Kushlaf, Shafeeq Ladha, Tahseen Mozaffar, Volker Straub, Antonio Toscano, Ans T. van der Ploeg, Paula R. Clemens, John W. Day, Sergey Illarioshkin, Mark E. Roberts, Shahram Attarian, Gerson Carvalho, Sevim Erdem-Özdamar, Ozlem Goker-Alpan, Anna Kostera-Pruszczyk, Kristina An Haack, Olivier Huynh-Ba, Swathi Tammireddy, Nathan Thibault, Tianyue Zhou, Mazen M. Dimachkie, Benedikt Schoser
المصدر: Molecular Genetics and Metabolism. 138:107185
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fd5a5f4858cc8cbc9651e597cf8db827Test
https://doi.org/10.1016/j.ymgme.2022.107185Test -
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المؤلفون: Priya Kishnani, Jordi Díaz-Manera, Hani Kushlaf, Shafeeq Ladha, Tahseen Mozaffar, Volker Straub, Antonio Toscano, Ans T. van der Ploeg, Kenneth I. Berger, Paula R. Clemens, Yin-Hsiu Chien, John W. Day, Sergey Illarioshkin, Mark Roberts, Shahram Attarian, Gerson Carvalho, Young-Chul Choi, Sevim Erdem-Özdamar, Ozlem Goker-Alpan, Anna Kostera-Pruszczyk, Kristina An Haack, Nathan Thibault, Tianyue Zhou, Mazen M. Dimachkie, Benedikt Schoser
المصدر: Molecular Genetics and Metabolism. 135:S66-S67
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8ca8754c5e69f0b9ffc64a95181c90faTest
https://doi.org/10.1016/j.ymgme.2021.11.168Test -
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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 -
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المؤلفون: John W. Day, Tianyue Zhou, Mazen M. Dimachkie, Joao Lindolfo Borges, Sevim Erdem-Ozdamar, Anna Kostera-Pruszczyk, Shafeeq Ladha, Ozlem Goker-Alpan, Yin-Hsiu Chien, Tahseen Mozaffar, Shahram Attarian, Ans T. van der Ploeg, Priya S. Kishnani, Jordi Díaz-Manera, Kristina An Haack, Young Chul Choi, Olivier Huynh-Ba, Paula R. Clemens, Volker Straub, Mark Roberts, Françoise Bouhour, Hani Kushlaf, Antonio Toscano, Benedikt Schoser, Sergey Illarioshkin
المصدر: Molecular Genetics and Metabolism. 132:S57
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Internal medicine, Comet, Genetics, medicine, Late onset, business, Molecular Biology, Biochemistry, Gastroenterology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9d2e2f2605b089f40f1f662bd16eaaf5Test
https://doi.org/10.1016/j.ymgme.2020.12.127Test -
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المؤلفون: Anna Kostera-Pruszczyk, Katarzyna Tońska, Biruta Kierdaszuk, Ewa Bartnik, Magdalena Kaliszewska, Anna Kamińska
المصدر: Neuromuscular Disorders. 27:S119
مصطلحات موضوعية: Genetics, Neurology, Mitochondrial disease, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Biology, medicine.disease, Genetics (clinical), Nuclear DNA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::deff093d4be48ee3b09a29731a6a888aTest
https://doi.org/10.1016/j.nmd.2017.06.100Test -
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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 -
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المؤلفون: Barbara Ryniewicz, Irena Hausmanowa-Petrusewicz, Janusz Zimowski, Monika Gos, Anna Kostera-Pruszczyk, Maria Jędrzejowska
المصدر: Neuromuscular Disorders. 22:871
مصطلحات موضوعية: Genetics, Mutation, Point mutation, Spinal muscular atrophy, SMN1, Biology, medicine.disease_cause, SMA, medicine.disease, Molecular biology, Exon, Neurology, Pediatrics, Perinatology and Child Health, medicine, Missense mutation, Neurology (clinical), Multiplex ligation-dependent probe amplification, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8eacedbcdce2858c4742f3c106b7710aTest
https://doi.org/10.1016/j.nmd.2012.06.226Test -
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المؤلفون: Barbara Ryniewicz, Anna Kostera-Pruszczyk, H. Kwieciński
المصدر: European Journal of Paediatric Neurology. 12:S23
مصطلحات موضوعية: Genetics, Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine, Biology, Gene, Phenotype
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a9957cbde98730b024ce29d1f321ea22Test
https://doi.org/10.1016/s1090-3798Test(08)70075-8 -
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المؤلفون: P. Charron, Piotr Pruszczyk, Pascal Laforêt, A. Nadaj-Pakleza, P. Richard, Anna Kamińska, Anna Kostera-Pruszczyk
المصدر: European Journal of Paediatric Neurology. 11:112
مصطلحات موضوعية: Genetics, Pediatrics, Perinatology and Child Health, medicine, Danon disease, Neurology (clinical), General Medicine, Biology, Gene mutation, medicine.disease, Penetrance
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::00e4dd0e488510cd6dd305a3f0425e24Test
https://doi.org/10.1016/s1090-3798Test(08)70682-2