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1دورية أكاديمية
المؤلفون: Katerina Vraka, Dipak Ram, Siobhan West, Wei Yen Evelyn Chia, Praveen Kurup, Gayathri Subramanian, Hui Jeen Tan
المصدر: Case Reports in Neurological Medicine, Vol 2021 (2021)
مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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المؤلفون: Kelsey A Nolden, John M Egner, Jack J Collier, Oliver M Russell, Charlotte L Alston, Megan C Harwig, Michael E Widlansky, Souphatta Sasorith, Inês A Barbosa, Andrew GL Douglas, Julia Baptista, Mark Walker, Deirdre E Donnelly, Andrew A Morris, Hui Jeen Tan, Manju A Kurian, Kathleen Gorman, Santosh Mordekar, Charu Deshpande, Rajib Samanta, Robert McFarland, R Blake Hill, Robert W Taylor, Monika Oláhová
المساهمون: Medical College of Wisconsin [Milwaukee] (MCW), Newcastle University [Newcastle], McGill University = Université McGill [Montréal, Canada], Newcastle Upon Tyne Hospitals NHS Foundation Trust, Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), King‘s College London, University Hospital Southampton NHS Foundation Trust, University of Southampton, Plymouth University, Belfast City Hospital, Manchester Centre for Genomic Medicine [Manchester, UK] (MCGM), St Mary's Hospital Manchester-Manchester Academic Health Science Centre (MAHSC), University of Manchester [Manchester]-University of Manchester [Manchester]-Manchester University NHS Foundation Trust (MFT)-Faculty of Biology, Medicine and Health [Manchester, UK], University of Manchester [Manchester], Central Manchester University Hospitals [Manchester, U.K.], University College of London [London] (UCL), Children's Health Ireland [Crumlin, Dublin, Ireland] (CHI), University College Dublin [Dublin] (UCD), Sheffield Children's NHS Foundation Trust, Guy's and St Thomas' NHS Foundation Trust [London, UK], University Hospitals Leicester, MORNET, Dominique
المصدر: Life Science Alliance
Life Science Alliance, 2022, 5 (12), pp.e202101284. ⟨10.26508/lsa.202101284⟩مصطلحات موضوعية: [SDV] Life Sciences [q-bio], Ecology, Health, Toxicology and Mutagenesis, [SDV]Life Sciences [q-bio], Plant Science, Biochemistry, Genetics and Molecular Biology (miscellaneous)
وصف الملف: application/pdf; text
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62b8a9c027c7e13c25a6467a334e8cc1
https://hal.science/hal-03751011/document -
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المؤلفون: Kelsey A, Nolden, John M, Egner, Jack J, Collier, Oliver M, Russell, Charlotte L, Alston, Megan C, Harwig, Michael E, Widlansky, Souphatta, Sasorith, Inês A, Barbosa, Andrew Gl, Douglas, Julia, Baptista, Mark, Walker, Deirdre E, Donnelly, Andrew A, Morris, Hui Jeen, Tan, Manju A, Kurian, Kathleen, Gorman, Santosh, Mordekar, Charu, Deshpande, Rajib, Samanta, Robert, McFarland, R Blake, Hill, Robert W, Taylor, Monika, Oláhová
المصدر: Life science alliance. 5(12)
مصطلحات موضوعية: Dynamins, Mitochondrial Proteins, Humans, Microtubule-Associated Proteins, Mitochondrial Dynamics, GTP Phosphohydrolases, Mitochondria
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e63cb089269f9f5b47c6542859b41904
https://pubmed.ncbi.nlm.nih.gov/35914810 -
4دورية أكاديمية
المؤلفون: Nolden, Kelsey A., Egner, John M., Collier, Jack J., Russell, Oliver M., Alston, Charlotte L., Harwig, Megan C., Widlansky, Michael E., Sasorith, Souphatta, Barbosa, Inês A., Douglas, Andrew G. L., Baptista, Julia, Walker, Mark, Donnelly, Deirdre E., Morris, Andrew A., Hui Jeen Tan, Kurian, Manju A., Gorman, Kathleen, Mordekar, Santosh, Deshpande, Charu, Samanta, Rajib
المصدر: Life Science Alliance; Dec2022, Vol. 5 Issue 12, p1-23, 23p
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المؤلفون: Stephen T J Ray, Omar Abdel-Mannan, Mario Sa, Charlotte Fuller, Greta K Wood, Karen Pysden, Michael Yoong, Helen McCullagh, David Scott, Martin McMahon, Naomi Thomas, Micheal Taylor, Marjorie Illingworth, Nadine McCrea, Victoria Davies, William Whitehouse, Sameer Zuberi, Keira Guthrie, Evangeline Wassmer, Nikit Shah, Mark R Baker, Sangeeta Tiwary, Hui Jeen Tan, Uma Varma, Dipak Ram, Shivaram Avula, Noelle Enright, Jane Hassell, Amy L Ross Russell, Ram Kumar, Rachel E Mulholland, Sarah Pett, Ian Galea, Rhys H Thomas, Laura A Benjamin, Ming Lim, Yael Hacohen, Tom Solomon, Michael J Griffiths, Benedict D Michael, Rachel Kneen, Gerome Breen, Hannah Castell, Ceryce Collie, Lilly George, Monika Hartmann, Marc Henrion, Maria Kinali, Christina Petropoulos, Sithara Ramdas, Victoria Vlachou, Brigitte Vollmer, Bethany Facer, Cordelia Dunai, Laura Benjamin
المساهمون: group, CoroNerve study
المصدر: The Lancet. Child & Adolescent Health
LANCET CHILD & ADOLESCENT HEALTHمصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Neurology, Neurological manifestations, SARS-CoV-2 infection, hospitalised, children, adolescents, Encephalopathy, Neurological disorder, State Medicine, Cohort Studies, Intensive care, Developmental and Educational Psychology, medicine, Humans, Prospective Studies, Child, Prospective cohort study, business.industry, Mental Disorders, COVID-19, Chorea, Articles, medicine.disease, Patient Discharge, United Kingdom, Hospitalization, Pediatrics, Perinatology and Child Health, Female, Nervous System Diseases, medicine.symptom, business, Child, Hospitalized, Encephalitis, Cohort study
وصف الملف: text;
PDF ; application/vnd.openxmlformats-officedocument.wordprocessingml.documentURL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61c678301e22dab3f28d3c380bca0515
https://eprints.soton.ac.uk/450677/ -
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المؤلفون: Wei Yen Evelyn Chia, Katerina Vraka, Siobhan West, Gayathri Subramanian, D. Ram, Praveen Kurup, Hui Jeen Tan
المصدر: Case Reports in Neurological Medicine
Case Reports in Neurological Medicine, Vol 2021 (2021)مصطلحات موضوعية: Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Encephalopathy, Lymphocytic pleocytosis, Case Report, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, medicine, RC346-429, skin and connective tissue diseases, 030304 developmental biology, Paediatric patients, 0303 health sciences, biology, business.industry, fungi, medicine.disease, Immunology, biology.protein, Neurology. Diseases of the nervous system, Antibody, General Agricultural and Biological Sciences, business, 030217 neurology & neurosurgery, Encephalitis
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المؤلفون: Adam T. Higgins, Mitchell Goldfarb, Denise Williams, Xiaodong Wang, Anna V. Derrick, Kay Metcalfe, Ying Yang, Ronit Mesterman, Yuehua Zhang, Seo-Kyung Chung, Mark A. Tarnopolsky, Martin A. McClatchey, Sally J. Davies, Mark I. Rees, Shivaram Avula, Rajiv Mohanraj, Andrew E. Fry, William O. Pickrell, Lauren Brady, Christopher Marra, Hui Jeen Tan, Johann te Water Naude
المصدر: Fry, A E, Marra, C, Derrick, A V, Pickrell, W O, Higgins, A T, te Water Naude, J, McClatchey, M A, Davies, S J, Metcalfe, K A, Tan, H J, Mohanraj, R, Avula, S, Williams, D, Brady, L I, Mesterman, R, Tarnopolsky, M A, Zhang, Y, Yang, Y, Wang, X, Rees, M I, Goldfarb, M & Chung, S K 2021, ' Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy ', American Journal of Human Genetics, vol. 108, no. 1, pp. 176-185 . https://doi.org/10.1016/j.ajhg.2020.10.017
Am J Hum Genetمصطلحات موضوعية: 0301 basic medicine, Gene isoform, Male, Heterozygote, Adolescent, FHF2, Mutant, Mutation, Missense, infantile onset, Biology, Fibroblast growth factor, X linked, 03 medical and health sciences, Epilepsy, Exon, 0302 clinical medicine, Genes, X-Linked, Seizures, Report, voltage-gated sodium channel, Genetics, medicine, Missense mutation, Humans, Protein Isoforms, Amino Acid Sequence, developmental and epileptic encephalopathy, Child, Gene, Genetics (clinical), Neurons, Brain Diseases, Sodium channel, Exons, medicine.disease, Cell biology, Fibroblast Growth Factors, 030104 developmental biology, epileptic encephalopathy, NAV1.6 Voltage-Gated Sodium Channel, Gain of Function Mutation, FGF13, epilepsy, Female, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee96fc122e6622a11042ddacdd08882c
https://orca.cardiff.ac.uk/id/eprint/136659/3/FHF2_DEE_R4_FINAL_merged.pdf -
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المؤلفون: Rachel Kneen, Hui Jeen Tan, Mostafa Awadh, Mary O'Regan, Timothy R. Martland
المصدر: Journal of Pediatric Epilepsy. :103-110
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Maintenance dose, Rufinamide, medicine.disease, Discontinuation, Epilepsy, Tolerability, Refractory, Pediatrics, Perinatology and Child Health, Epilepsy syndromes, Medicine, Neurology (clinical), business, Pediatric population, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::52bcf0a78c4ec40aa46e9c7b77f5cae7
https://doi.org/10.1055/s-0037-1599190 -
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المؤلفون: Finbar J K O'Callaghan, Stuart W Edwards, Fabienne Dietrich Alber, Mario Cortina Borja, Eleanor Hancock, Anthony L Johnson, Colin R Kennedy, Marcus Likeman, Andrew L Lux, Mark T Mackay, Andrew A Mallick, Richard W Newton, Melinda Nolan, Ronit Pressler, Dietz Rating, Bernhard Schmitt, Christopher M Verity, John P Osborne, Maysara Abdel Aziz, Triloknath Acharya, Carolyn Adcock, Robert Jones, Rachel Howells, Ben Marsh, Kemi Adejare, Rashmi Adiga, Mary Wheater, Mansoor Ahmed, Mohammad Sawal, Chhavi Goel, MAS Ahmed, Michael Alber, Markus Wolff, Susanne Ruf, Asya Al-Kharusi, Hassan Al-Moasseb, Ruchi Arora, Richard Beach, Patricia Atkinson, Kunle Ayonrinde, Pronab Bala, Nicola Bamford, Nagi Barakat, Nigel Basheer, Peter Baxter, Santosh Mordekar, Chris Rittey, Ingo Borggraefe, Peter Borusiak, Sabine Cagnoli, Richard Brown, Sophie Calvert, Duncan Cameron, Ramesh Chaniyil, Ravi Chinthapalli, Gabriel Chow, William Whitehouse, Vinodhini Clarke, Chris Cooper, Alexane Datta, Selwyn D'Costa, Christian de Goede, Helen Basu, David Deekollu, Adela Della Marina, Penelope Dison, Colin Dunkley, Megan Eaton, Julie Ellison, Robert Pugh, Penny Fallon, Hani Faza, Imti Choonara, Richard Morton, Mal Ratnayaka, Colin Ferrie, Amanda Freeman, Stephen Warriner, Maria Garcia, Malihe Ghazavi, Frances Gibbon, John Gibbs, Des Ginbey, Iolanda Guarino, Rajesh Gupta, Mary Hanlon, Siân Harris, Paul Munyard, Cheryl Hemingway, Christin Eltze, Marios Kaliakatsos, Velayutham Murugan, Robert Robinson, Jeen Tan, Daniel Hindley, Adrian Hughes, Akmal Hussain, Greg Boden, Munir Hussain, Nahin Hussain, Lyvia Dabydeen, Kate Irwin, Julia Jacobs, Praveen Jauhari, Philip Minchom, Simon Jones, Michael Karenfort, Reinhard Keimer, Colin Kennedy, Fenella Kirkham, Andrea Whitney, Martin Kirkpatrick, Alice Jollands, Rachel Kneen, Anand Iyer, Amy McTague, Stefan Spinty, Ramesh Kumar, Gerhard Kurlemann, Matthew Lee, Eman Jurges, Robert Levy, Helen Lewis, Hilary Lewis, Andrew Lloyd Evans, Ne-Ron Loh, John Osborne, Finbar O'Callaghan, Hilary Maddicks, Thomas Luecke, Andrew Lux, Anirban Majumdar, Kayal Vijayakumar, Mark MacKay, Jeremy Freeman, Michael Hayman, Andrew Kornberg, Rick Leventer, Monique Ryan, Tyson Ware, Penny Mancais, Katina Marinaki, Albert Massarano, Satheesh Mathew, Ailsa McLellan, Colin Melville, Leena Mewasingh, Hiltrud Muhle, Eisawi Nagmeldin, Jeyashree Natarajan, Suresh Nelapatla, Jailosi Gondwe, Richard Newton, Imelda Hughes, Tim Martland, Gary McCullagh, Grace Vassallo, Stephen Nirmal, Suzanne Davis, Rakesh Patel, Cynthia Sharpe, Anas Olabi, Kevin O'Neill, Jim Gould, Axel Panzer, Manuela Theophil, Srinivas Parepalli, Frank Hinde, Martin Smith, Alasdair Parker, Manali Chitre, Sunny Philip, Rajat Gupta, Evangeline Wassmer, Mike Pike, Tony McShane, Nandhini Prakash, Beena Padmakumar, Clair Pridmore, Viola Prietsch, Peter Krieg, Ros Quinlivan, Michael Quinn, Andrew Collinson, Usha Rajalingam, Karl Rakshi, Tekki Rao, Asha Ravi, Rob Rifkin, Helen Roper, Piers Rowlandson, Lynette Sadleir, Sanjay Sahi, Arun Saraswatula, Siobhan O'Sullivan, Kethar Saravanan, Alastair Scammell, Sudhakar Rao, Susanne Schubert-Bast, David J Scott, Fraser Scott, Matthew Pye, Ayaz Shah, Elma Stephen, Shambhu Shah, Andrew Butterfill, Pauline Shute, Rajeeva Singh, Brigid Allogoa, Ravinder Singh, Gyanranjan Sinha, Puthuval Sivakumar, Robert Smith, Sivaranjini Sriskandan, Martin Steinert, Michael Strassburg, Susi Strozzi, Geeta Subramanian, Andrew Tandy
المساهمون: University of Zurich, O'Callaghan, Finbar J K
المصدر: O'Callaghan, F J K, Edwards, S W, Alber, F D, Cortina Borja, M, Hancock, E, Johnson, A L, Kennedy, C R, Likeman, M, Lux, A L, Mackay, M T, Mallick, A A, Newton, R W, Nolan, M, Pressler, R, Rating, D, Schmitt, B, Verity, C M & Osborne, J P 2018, ' Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial ', The Lancet Child & Adolescent Health, vol. 2, no. 10, pp. 715-725 . https://doi.org/10.1016/S2352-4642(18)30244-X
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Combination therapy, 610 Medicine & health, Vigabatrin, law.invention, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Pharmacotherapy, Randomized controlled trial, law, 030225 pediatrics, medicine, Developmental and Educational Psychology, Pediatrics, Perinatology, and Child Health, 2735 Pediatrics, Perinatology and Child Health, 3204 Developmental and Educational Psychology, Intention-to-treat analysis, business.industry, medicine.disease, 10036 Medical Clinic, Pediatrics, Perinatology and Child Health, Prednisolone, Hormonal therapy, business, 030217 neurology & neurosurgery, medicine.drug
وصف الملف: text; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d3baddd3818a1f9a275daec7e4bbd79
https://eprints.soton.ac.uk/423428/ -
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المؤلفون: A. Silwal, A. Rajai, Timothy Martland, N. Swiderska, Hui Jeen Tan, A. Desurkar
المصدر: Seizure. 52
مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Drug Resistant Epilepsy, Time Factors, Adolescent, Pyridones, 03 medical and health sciences, Perampanel, chemistry.chemical_compound, Epilepsy, Young Adult, 0302 clinical medicine, Nitriles, medicine, Humans, Young adult, Adverse effect, Child, Dose-Response Relationship, Drug, business.industry, Seizure types, Age Factors, General Medicine, medicine.disease, United Kingdom, Discontinuation, 030104 developmental biology, Treatment Outcome, Neurology, chemistry, Tolerability, Child, Preschool, Physical therapy, Anticonvulsants, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Somnolence, Follow-Up Studies