المؤلفون: Joshua J. Todd, Tokunbor A. Lawal, Irene C. Chrismer, Angela Kokkinis, Christopher Grunseich, Minal S. Jain, Melissa R. Waite, Victoria Biancavilla, Shavonne Pocock, Kia Brooks, Christopher J. Mendoza, Gina Norato, Ken Cheung, Willa Riekhof, Pooja Varma, Claudia Colina-Prisco, Magalie Emile-Backer, Katherine G. Meilleur, Andrew R. Marks, Yael Webb, Eugene E. Marcantonio, A. Reghan Foley, Carsten G. Bönnemann, Payam Mohassel

المصدر: EClinicalMedicine, Vol 68, Iss , Pp 102433- (2024)

مصطلحات موضوعية: Central core disease, Congenital myopathies, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2589537024000129Test; https://doaj.org/toc/2589-5370Test

الوصول الحر: https://doaj.org/article/eaee208d483c458182ce30c47fd601c7Test

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: Victoria Biancavilla, A. Reghan Foley, Carsten G. Bönnemann, Maha S. Zaki, Rita Horvath, Sandra Donkervoort, Joseph G. Gleeson, Tobias B. Haack, Matthew Nalls, Chunyu Cai, Katherine R. Chao, Corien C. Verschuuren-Bemelmans, Lucia Laugwitz, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Erik-Jan Kamsteeg, Susan T. Iannaccone, Grace McMacken, Annemarie Fock, Nicol C. Voermans, Payam Mohassel, Veronka Horber, Hanns Lochmüller, Henry Houlden, Tanya J. Lehky, Molly Snyder, Riley M. McCarty, Minal S. Jain

المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

المصدر: Am J Med Genet A
American Journal of Medical Genetics. Part A, 182(10), 2272-2283. Wiley
American Journal of Medical Genetics. Part A, 182, 10, pp. 2272-2283
American Journal of Medical Genetics. Part A, 182, 2272-2283

مصطلحات موضوعية: Male, 0301 basic medicine, 030105 genetics & heredity, Synaptic Transmission, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Synaptotagmin II, Missense mutation, SYNAPTOTAGMIN-I, Child, Genetics (clinical), Muscle Weakness, neuromuscular junction, Congenital myasthenic syndrome, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Hypotonia, Pedigree, 3. Good health, Synaptic vesicle exocytosis, Phenotype, medicine.anatomical_structure, SYT2, Child, Preschool, Muscle Hypotonia, Female, medicine.symptom, medicine.medical_specialty, Weakness, Adolescent, Mutation, Missense, synaptotagmins, Article, Neuromuscular junction, 03 medical and health sciences, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, NEUROTRANSMITTER RELEASE, MESSENGER-RNAS, Loss function, Myasthenic Syndromes, Congenital, MUTATIONS, Synaptic vesicle membrane, business.industry, medicine.disease, GENE, 030104 developmental biology, Endocrinology, congenital myasthenic syndrome, presynaptic CMS, business

وصف الملف: application/pdf; application/octet-stream; application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a9a905427015a1435a6bd473ac4d8e4Test
https://doi.org/10.1002/ajmg.a.61765Test

المؤلفون: Tiffany Yeh, Pamela Weisberg-Shapiro, Camille Chan, Victoria Biancavilla

المصدر: Current Developments in Nutrition. 3:nzz050.OR13-05

مصطلحات موضوعية: Medical education, Nutrition and Dietetics, Rural community, Food availability, Qualitative interviews, Nutrition Education, Medicine (miscellaneous), Healthy eating, Nutrition Education and Behavioral Science, Grounded theory, Fruits and vegetables, School based, Psychology, Food Science

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::155a0aa963f36dea97de16c8fd95479eTest
https://doi.org/10.1093/cdn/nzz050.or13-05-19Test