المؤلفون: Laura K. Case, Jaquette Liljencrantz, Nicholas Madian, Aaron Necaise, Justin Tubbs, Micaela McCall, Megan L. Bradson, Marcin Szczot, Mark H. Pitcher, Nima Ghitani, Eleni Frangos, Jonathan Cole, Diana Bharucha-Goebel, Dimah Saade, Tracy Ogata, Sandra Donkervoort, A. Reghan Foley, Carsten G. Bönnemann, Håkan Olausson, M. Catherine Bushnell, Alexander T. Chesler

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/b005162b0b26483ea9700b4ecfd44b19Test

المؤلفون: Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Svetlana Gorokhova, Janelle Geist Hauserman, Beryl B Cummings, Ying Hu, Rosemarie Smith, Prech Uapinyoying, Vijay S Ganesh, Partha S Ghosh, Kristin G Monaghan, Seby L Edassery, Pia E Ferle, Sarah Silverstein, Katherine R Chao, Molly Snyder, Sara Ellingwood, Diana Bharucha‐Goebel, Susan T Iannaccone, Matteo Dal Peraro, A Reghan Foley, Jeffrey N Savas, Véronique Bolduc, Dirk Fasshauer, Carsten G Bönnemann, Michael Schwake

المصدر: EMBO Molecular Medicine, Vol 13, Iss 12, Pp n/a-n/a (2021)

مصطلحات موضوعية: BET1, epilepsy, GOSR2, muscular dystrophy, SNARE, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1757-4676Test; https://doaj.org/toc/1757-4684Test

الوصول الحر: https://doaj.org/article/36e02f0c64b8417881fabf19320857cfTest

المؤلفون: Joel A. Morales-Rosado, Tanya L. Schwab, Sarah K. Macklin-Mantia, A. Reghan Foley, Filippo Pinto e Vairo, Davut Pehlivan, Sandra Donkervoort, Jill A. Rosenfeld, Grace E. Boyum, Ying Hu, Anh T.Q. Cong, Timothy E. Lotze, Carrie A. Mohila, Dimah Saade, Diana Bharucha-Goebel, Katherine R. Chao, Christopher Grunseich, Christine C. Bruels, Hannah R. Littel, Elicia A. Estrella, Lynn Pais, Peter B. Kang, Michael T. Zimmermann, James R. Lupski, Brendan Lee, Matthew J. Schellenberg, Karl J. Clark, Klaas J. Wierenga, Carsten G. Bönnemann, Eric W. Klee

المصدر: The American Journal of Human Genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c499b888e214073eb018b6346f98d839Test
https://doi.org/10.1016/j.ajhg.2023.04.006Test

المؤلفون: Rachel Battaglia, Maryam Faridounnia, Adriana Beltran, Jasmine Robinson, Karina Kinghorn, J. Ashley Ezzell, Diana Bharucha-Goebel, Carsten Bonnemann, Jody E. Hooper, Puneet Opal, Thomas W. Bouldin, Diane Armao, Natasha Snider

المصدر: bioRxiv

مصطلحات موضوعية: Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccf52fd77b50093f7b7bafc61fc187d1Test
https://europepmc.org/articles/PMC10054982Test/

المؤلفون: Annette Rid, Eduardo Paredes, Christine Grady, Alexander A. Iyer, Carsten G. Bönnemann, Dimah Saade, Steven J. Gray, S Hendriks, G. Averion, Diana Bharucha-Goebel, A. Reghan Foley

المصدر: Genetics in Medicine. 23:2057-2066

مصطلحات موضوعية: Clinical trial, medicine.medical_specialty, business.industry, Genetic enhancement, medicine, Medical laboratory, Early phase, Intensive care medicine, business, Pediatric Disease, Genetics (clinical), Human genetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8d6bf008d69068fc01ec3e793e4e2fbeTest
https://doi.org/10.1038/s41436-021-01245-3Test

المؤلفون: Margaret Fink, Carsten G. Bönnemann, Gina Norato, Diana Bharucha-Goebel, Sandra Donkervoort, A. Reghan Foley, G. Averion, Victoria Biancavilla, Sarah Debs, Dimah Saade, Eduardo Paredes, Ying Hu, Minal S. Jain, Rupleen Kaur, Wadih M. Zein, Diane Armao, M. Waite, Steven J. Gray, Tanya J. Lehky

المصدر: Brain

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Adolescent, Cross-sectional study, Disease, Cohort Studies, Young Adult, medicine, Humans, Child, Giant axonal neuropathy, Clinical pathology, business.industry, Gigaxonin, Original Articles, medicine.disease, Natural history, Cross-Sectional Studies, Giant Axonal Neuropathy, Child, Preschool, Cohort, Female, Neurology (clinical), business, Natural history study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd1db4ed000f65c170b9dd66f4963050Test
https://doi.org/10.1093/brain/awab179Test

المؤلفون: Muhammad, Yousef, Diana, Bharucha-Goebel, Dimah, Saade, Gilberto, Averion, Carsten G, Bönnemann, Zenaide M N, Quezado

المصدر: AA practice. 15(10)

مصطلحات موضوعية: Cytoskeletal Proteins, Adolescent, Giant Axonal Neuropathy, Mutation, Humans, Fibroblasts, Child, Anesthetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::85615d2b5523bb82f9083b15361d5dd6Test
https://pubmed.ncbi.nlm.nih.gov/34695041Test

المؤلفون: Alexander A, Iyer, Dimah, Saade, Diana, Bharucha-Goebel, A Reghan, Foley, Gilberto 'Mike', Averion, Eduardo, Paredes, Steven, Gray, Carsten G, Bönnemann, Christine, Grady, Saskia, Hendriks, Annette, Rid

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(11)

مصطلحات موضوعية: Clinical Trials as Topic, Treatment Outcome, Humans, Genetic Therapy, Child

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::35731c20581d9e93e03616f824ff1bfdTest
https://pubmed.ncbi.nlm.nih.gov/34234300Test

المؤلفون: Mirthe H. Schoots, Sandra Donkervoort, Carsten G. Bönnemann, A. Reghan Foley, Johanna C. Herkert, Jan D. H. Jongbloed, Diana Bharucha-Goebel, Katherine R. Chao, Alissa M. D'Gama, James J. Collins, Pankaj B. Agrawal, Anita E. Qualls

المساهمون: Cardiovascular Centre (CVC)

المصدر: Muscle Nerve
MUSCLE & NERVE, 59(3), 357-362. Wiley

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Physiology, Biopsy, Cardiomyopathy, Muscle Proteins, 030105 genetics & heredity, medicine.disease_cause, Compound heterozygosity, Consanguinity, 0302 clinical medicine, congenital myopathies, Medicine, Exome, Child, striated preferentially expressed protein kinase (SPEG), Mutation, Muscle Weakness, medicine.diagnostic_test, Dilated cardiomyopathy, Phenotype, Child, Preschool, CENTRONUCLEAR, Female, medicine.symptom, DYNAMIN-2, Sequence Analysis, Myopathies, Structural, Congenital, medicine.medical_specialty, centronuclear myopathies, next generation sequencing (NGS), Protein Serine-Threonine Kinases, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, Physiology (medical), Humans, Muscle, Skeletal, Genetic Association Studies, Muscle biopsy, business.industry, Muscle weakness, Infant, medicine.disease, GENE, Neurology (clinical), business, myotubularin (MTM1), cardiomyopathy, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19e8e23215d1fe882e3df3dc4cd9a6e2Test
https://doi.org/10.1002/mus.26378Test

المؤلفون: Monique M. Ryan, Roberto T. Zori, Diana Bharucha-Goebel, Matthew White, Carsten G. Bönnemann, Henry Houlden, Reza Maroofian, Jemeen Sreedharan, Karit Reinson, Noora Andersson, Mariëtte J.V. Hoffer, Monica H. Wojcik, Maie Walsh, Olli Carpén, Emilia K. Bijlsma, Marie-José H. van den Boogaard, Rosa Woldegebriel, Fang Zhao, Sara Winchester, Emil Ylikallio, Inge Cuppen, Zornitza Stark, Murray Stewart, Jouni Kvist, Henna Tyynismaa, Emer O'Connor, Sandra Donkervoort, Katrin Õunap

المساهمون: Centre of Excellence in Stem Cell Metabolism, STEMM - Stem Cells and Metabolism Research Program, Research Programs Unit, University of Helsinki, HUS Children and Adolescents, Department of Pathology, Helsinki University Hospital Area, Research Program in Systems Oncology, HUSLAB, Precision Cancer Pathology, Olli Mikael Carpen / Principal Investigator, Clinicum, HUS Neurocenter, Department of Neurosciences, Neurologian yksikkö, Department of Medical and Clinical Genetics, Staff Services, Henna Tyynismaa / Principal Investigator, Neuroscience Center, Helsinki Institute of Life Science HiLIFE

المصدر: Human Molecular Genetics, 29(9), 1426-1439. OXFORD UNIV PRESS
Human Molecular Genetics

مصطلحات موضوعية: AcademicSubjects/SCI01140, Male, PROMOTES, Protein Conformation, SAGA, RNA Transport, Transcriptome, INITIATION, 0302 clinical medicine, Transcription (biology), Gene expression, TRANSCRIPTION, Age of Onset, Child, Genetics (clinical), SAC3, Regulation of gene expression, Genetics, 0303 health sciences, TREX-2 COMPLEX, 1184 Genetics, developmental biology, physiology, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Peripheral Nervous System Diseases, General Medicine, Phenotype, Child, Preschool, Antigens, Surface, Female, General Article, MCM3AP, Biology, REGION, 03 medical and health sciences, Acetyltransferases, Intellectual Disability, Humans, RNA, Messenger, Molecular Biology, Transcription factor, Gene, 030304 developmental biology, Glycoproteins, Cell Nucleus, Flavoproteins, Intron, PATHWAYS, Phosphoproteins, Introns, Phosphoric Monoester Hydrolases, Exodeoxyribonucleases, Gene Expression Regulation, REPLICATION, 1182 Biochemistry, cell and molecular biology, 3111 Biomedicine, Nervous System Diseases, 030217 neurology & neurosurgery, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7780efc3f8291732bd404810d3e154bTest
https://openaccess.sgul.ac.uk/id/eprint/111823/1/ddaa051.pdfTest