المؤلفون: Surita Meldau, Sally Ackermann, Gillian Riordan, George F. van der Watt, Careni Spencer, Sharika Raga, Kashief Khan, Dee M. Blackhurst, Francois H. van der Westhuizen

المصدر: Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101078- (2024)

مصطلحات موضوعية: MT-DN6, Leigh syndrome, Novel mtDNA variant, Complex I deficiency, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426924000314Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/9892e44912304e90a1a247108609ce21Test

المؤلفون: Richard J. Burman, Sally Ackermann, Alexander Shapson-Coe, Alvin Ndondo, Heloise Buys, Jo M. Wilmshurst

المصدر: Frontiers in Neurology, Vol 10 (2019)

مصطلحات موضوعية: Africa, convulsive status epilepticus, management, pediatrics, phenobarbital, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2019.00506/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/dc344c16daa24391b413cbdd7517dd95Test

المؤلفون: Stanzi M le Roux, Sally Ackermann, Jo M. Wilmshurst

المصدر: Seizure. 70:82-89

مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Neurology, Population, Comorbidity, Tertiary Care Centers, South Africa, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Epidemiology, medicine, Humans, Child, education, Retrospective Studies, education.field_of_study, business.industry, Medical record, Infant, Newborn, Infant, General Medicine, medicine.disease, Child, Preschool, Epilepsy syndromes, Cohort, Female, Observational study, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8b0f312e37c4e2c6ad8fa0fcd3fd3ebTest
https://doi.org/10.1016/j.seizure.2019.06.018Test

المؤلفون: Thuy Anh Vu, Sally Ackermann, Andrew E. Fry, Seok Kyu Kang, Shelagh Joss, Katrien Stouffs, Satoko Miyatake, Katherine A. Fawcett, Ethan M. Goldberg, Elena Parrini, Natalie Hauser, Anna E. Jansen, Daniela T. Pilz, Daphna Marom, Adeline Jacquinet, Katherine L. Helbig, Yuh Fujiwara, Natalie Lippa, Orit Reish, Ingo Helbig, Bruria Ben-Zeev, Shraddha Srinivasan, Pradeep Vasudevan, Renzo Guerrini, Careni Spencer, Lieve Verstraete, Agnieszka Charzewska, Christopher H. Thompson, Jérôme Clatot, Jennifer A. Kearney, David R. FitzPatrick, Haim Bassan, Victoria Harrison, Naomichi Matsumoto, Tariq Zaman, Dorota Hoffman-Zacharska

المساهمون: Clinical sciences, Medical Genetics, Reproduction and Genetics, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics

المصدر: Ann Neurol

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Biology, Sodium Channels, Article, 03 medical and health sciences, Epilepsy, SCN3A, 0302 clinical medicine, Neurodevelopmental disorder, Fetus, Channelopathy, Intellectual disability, medicine, NAV1.3 Voltage-Gated Sodium Channel, Missense mutation, Humans, Child, Sodium channel, Brain, Genetic Variation, Infant, medicine.disease, Electrophysiology, 030104 developmental biology, HEK293 Cells, Neurology, Neurodevelopmental Disorders, Child, Preschool, Female, Neurology (clinical), Neuroscience, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::700d035773de953f5d73c7bf4583cbc9Test
https://orca.cardiff.ac.uk/id/eprint/132507/1/Zaman+et+al+2020+FINAL+Main+Document.pdfTest

المؤلفون: Sally Ackermann, Mats O. Karlsson, Marc Blockman, Jo M. Wilmshurst, Jan-Stefan van der Walt

المصدر: Journal of paediatrics and child health. 46(1-2)

مصطلحات موضوعية: Drug, Male, medicine.medical_specialty, Adolescent, media_common.quotation_subject, MEDLINE, Status epilepticus, Enteral administration, Enteral Nutrition, Pharmacokinetics, Refractory, Rescue therapy, parasitic diseases, medicine, Humans, Intensive care medicine, Child, media_common, Epilepsy, Dose-Response Relationship, Drug, business.industry, Infant, Newborn, Infant, Parenteral nutrition, Anesthesia, Child, Preschool, Phenobarbital, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dca24ac55fecc03f9d603faeceb495adTest
https://pubmed.ncbi.nlm.nih.gov/19943867Test