-
1Academic Journal
المؤلفون: Jessie Poquérusse, Melinda Nolan, David R. Thorburn, Johan L. K. Van Hove, Marisa W. Friederich, Donald R. Love, Juliet Taylor, Christopher A. Powell, Michal Minczuk, Russell G. Snell, Klaus Lehnert, Emma Glamuzina, Jessie C. Jacobsen
المصدر: JIMD Reports, Vol 64, Iss 3, Pp 223-232 (2023)
مصطلحات موضوعية: CARS2, mitochondrial disorders, neurodevelopmental disorder, tRNA synthetases, whole‐exome sequencing, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
-
2
المؤلفون: John P. Osborne, Stuart W. Edwards, Fabienne Dietrich Alber, Eleanor Hancock, Anthony L. Johnson, Colin R. Kennedy, Marcus Likeman, Andrew L. Lux, Mark Mackay, Andrew Mallick, Richard W. Newton, Melinda Nolan, Ronit Pressler, Dietz Rating, Bernhard Schmitt, Christopher M. Verity, FinbarJ.K. O'Callaghan
المصدر: Osborne, J P, Edwards, S W, Alber, F D, Hancock, E, Johnson, A L, Kennedy, C R, Likeman, M, Lux, A L, Mackay, M, Mallick, A, Newton, R W, Nolan, M, Pressler, R, Rating, D, Schmitt, B, Verity, C M & O'Callaghan, F J K 2023, ' Prednisolone or tetracosactide depot for infantile epileptic spasms syndrome? A prospective analysis of data embedded within two randomised controlled trials ', European Journal of Paediatric Neurology, vol. 42, pp. 110-116 . https://doi.org/10.1016/j.ejpn.2022.12.007
مصطلحات موضوعية: Randomised controlled trial, Infantile epileptic spasm syndrome, Infantile spasms, United Kingdom Infantile spasms study, Prednisolone, Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine, Epileptic spasms, West syndrome, International collaborative infantile spasms study, Tetracosactide
وصف الملف: application/pdf
-
3
المؤلفون: Julien H Park, Ulrika Nordström, Konstantinos Tsiakas, Isil Keskin, Christiane Elpers, Manoj Mannil, Raoul Heller, Melinda Nolan, Salam Alburaiky, Per Zetterström, Maja Hempel, Ulrike Schara-Schmidt, Saskia Biskup, Petra Steinacker, Markus Otto, Jochen Weishaupt, Andreas Hahn, René Santer, Thorsten Marquardt, Stefan L Marklund, Peter M Andersen
مصطلحات موضوعية: infantile motor neuron disease, Cellular and Molecular Neuroscience, Psychiatry and Mental health, Neurology, Medizin, Neurosciences, spasticity, SOD1, ALS, Biological Psychiatry, oxygen toxicity, Neurovetenskaper
وصف الملف: application/pdf
-
4
المؤلفون: Yanick J. Crow, Jeremy Armishaw, Leslie R. Bridges, Anirudh Patir, Barry W. McColl, Colin Smith, Jack Barrington, Antonia Clarke, Vivienne Hobbs, Iona Jeffrey, Luis Seabra, Jenny Eaton, Mathieu P Rodero, John H. Livingston, Melinda Nolan, Gillian I. Rice, Sahar Mansour, Carolina Uggenti
المساهمون: Laboratoire de Chimie et de Biochimie Pharmacologiques et Toxicologiques (LCBPT - UMR 8601), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), SW Thames Regional Genetics Service, St Georgeâ™s University of London, London
المصدر: Smith, C, McColl, B W, Patir, A, Barrington, J, Armishaw, J, Clarke, A, Eaton, J, Hobbs, V, Mansour, S, Nolan, M, Rice, G I, Rodero, M P, Seabra, L, Uggenti, C, Livingston, J H, Bridges, L R, Jeffrey, I J M & Crow, Y J 2020, ' Biallelic mutations in NRROS cause an early onset lethal microgliopathy ', Acta Neuropathologica, vol. 139, no. 5, pp. 947-951 . https://doi.org/10.1007/s00401-020-02137-7
Acta Neuropathologica
Acta Neuropathologica, Springer Verlag, 2020, 139 (5), pp.947-951. ⟨10.1007/S00401-020-02137-7⟩مصطلحات موضوعية: Male, [SDV]Life Sciences [q-bio], MEDLINE, Bioinformatics, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Text mining, Correspondence, Medicine, Animals, Humans, Allele, Age of Onset, ComputingMilieux_MISCELLANEOUS, Alleles, 030304 developmental biology, Early onset, Mice, Knockout, 0303 health sciences, business.industry, Brain, 3. Good health, Pedigree, Latent TGF-beta Binding Proteins, Mutation, Female, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
-
5
المؤلفون: Richard W Newton, Colin R. Kennedy, Finbar O'Callaghan, Mark T Mackay, Stuart W Edwards, Fabienne Dietrich Alber, Marcus Likeman, participating investigators, Ronit M. Pressler, Melinda Nolan, Eleanor Hancock, Andrew L Lux, Dietz Rating, Bernhard Schmitt, Christopher M Verity, John P. Osborne, Anthony L. Johnson, Andrew A Mallick
المصدر: Osborne, J P, Edwards, S W, Dietrich Alber, F, Hancock, E, Johnson, A L, Kennedy, C R, Likeman, M, Lux, A L, Mackay, M, Mallick, A, Newton, R W, Nolan, M, Pressler, R, Rating, D, Schmitt, B, Verity, C M, O'Callaghan, F J K & on behalf of the participating investigators 2019, ' The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (ICISS) ', Epilepsia, vol. 60, no. 9, pp. 1861-1869 . https://doi.org/10.1111/epi.16305
مصطلحات موضوعية: Male, 0301 basic medicine, Down syndrome, Pediatrics, medicine.medical_specialty, Combination therapy, Prednisolone, etiology, Clinical Neurology, Vigabatrin, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, Stroke, business.industry, Infant, Odds ratio, West syndrome, medicine.disease, Confidence interval, Malformations of Cortical Development, 030104 developmental biology, Neurology, Cohort, Etiology, Anticonvulsants, Female, Neurology (clinical), business, Spasms, Infantile, 030217 neurology & neurosurgery, medicine.drug, infantile spasms
وصف الملف: application/pdf; text
-
6
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
-
7
المؤلفون: Mark T Mackay, Bernhard Schmitt, Melinda Nolan, Stuart W Edwards, Anthony L. Johnson, Ronit M. Pressler, Andrew L Lux, Andrew A Mallick, Richard W Newton, Colin R. Kennedy, Fabienne Dietrich Alber, John P. Osborne, Eleanor Hancock, Christopher M Verity, Marcus Likeman, Finbar O'Callaghan, Dietz Rating
المساهمون: University of Zurich, O'Callaghan, Finbar J K
المصدر: O'Callaghan, F J K, Edwards, S W, Alber, F D, Hancock, E, Johnson, A L, Kennedy, C R, Likeman, M, Lux, A L, Mackay, M, Mallick, A A, Newton, R W, Nolan, M, Pressler, R, Rating, D, Schmitt, B, Verity, C M & Osborne, J P 2017, ' Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS) : a randomised, multicentre, open-label trial ', Lancet Neurology, vol. 16, no. 1, pp. 33-42 . https://doi.org/10.1016/S1474-4422(16)30294-0
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Clinical Neurology, 610 Medicine & health, Vigabatrin, law.invention, 03 medical and health sciences, 0302 clinical medicine, Pharmacotherapy, Randomized controlled trial, law, 030225 pediatrics, medicine, media_common.cataloged_instance, European union, Adverse effect, media_common, Intention-to-treat analysis, business.industry, Clinical trial, 2728 Neurology (clinical), 10036 Medical Clinic, Hormonal therapy, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug
وصف الملف: application/pdf; text; O'CallaghanFJ,_2017.pdf - application/pdf
-
8
المؤلفون: Samuel F. Berkovic, Hans-Henrik M. Dahl, Ingrid E. Scheffer, Anaïs Thouin, Helen Young, Saul A. Mullen, Todor Arsov, Melinda Nolan, Douglas E. Crompton, John A. Damiano, Kate M. Lawrence, Linda L Huh, Lynette G. Sadleir
المصدر: Epilepsia. 53:e204-e207
مصطلحات موضوعية: Proband, Genetics, medicine.medical_specialty, Genetic counseling, Biology, medicine.disease, Gastroenterology, Epilepsy, Neurology, Internal medicine, Cohort, medicine, biology.protein, Missense mutation, GLUT1, Neurology (clinical), Haploinsufficiency, Atonic seizure
-
9
المؤلفون: Margherita Nosadini, Mark P. Gorman, Melinda Nolan, Amy Waldman, Kumaran Deiva, Catherine J. Riney, Leslie Benson, Sudarshini Ramanathan, Richard Appleton, Shekeeb S. Mohammad, Brenda Banwell, Richard J. Leventer, Russell C. Dale, Fabienne Brilot, Gulay Alper
المصدر: Neurology® Neuroimmunology & Neuroinflammation
مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Cyclophosphamide, Azathioprine, Relapse prevention, Article, 03 medical and health sciences, 0302 clinical medicine, children, immune system diseases, Internal medicine, hemic and lymphatic diseases, medicine, B cell, Neuromyelitis optica, business.industry, Retrospective cohort study, medicine.disease, pediatric neuromyelitis optica spectrum disorder, 3. Good health, Rituximab, pediatric neuromyelitis optica spectrum disorder, children, treatment monitoring, treatment monitoring, 030104 developmental biology, medicine.anatomical_structure, Neurology, Cohort, Immunology, Rituximab, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug
-
10
المؤلفون: Mark T Mackay, A.L. Johnson, E. Hancock, A. Mallick, C.R. Kennedy, B. Schmitt, F. O'Callaghan, S. Edwards, Ronit M. Pressler, J.P. Osborne, F. Dietrich Alber, R. Newton, Melinda Nolan, D. Rating, A.L. Lux, M. Likeman, C.M. Verity
المصدر: European Journal of Paediatric Neurology. 21:e87
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Epilepsy, business.industry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), General Medicine, business, medicine.disease, Vigabatrin, Hormone, medicine.drug
-
11
المؤلفون: Todor, Arsov, Saul A, Mullen, John A, Damiano, Kate M, Lawrence, Linda L, Huh, Melinda, Nolan, Helen, Young, Anaïs, Thouin, Hans-Henrik M, Dahl, Samuel F, Berkovic, Douglas E, Crompton, Lynette G, Sadleir, Ingrid E, Scheffer
المصدر: Epilepsia. 53(12)
مصطلحات موضوعية: Adult, Male, Glucose Transporter Type 1, Adolescent, Monosaccharide Transport Proteins, DNA Mutational Analysis, Cohort Studies, Evolution, Molecular, Epilepsy, Absence, Child, Preschool, Mutation, Animals, Humans, Female, Child, Carbohydrate Metabolism, Inborn Errors
-
12
المؤلفون: C R West, Melinda Nolan, Chris E. Williams, Malcolm R. Battin, Jane E. Harding
المصدر: Archives of disease in childhood. Fetal and neonatal edition. 96(2)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Neonatal intensive care unit, Developmental Disabilities, Point-of-Care Systems, Electroencephalography, Likelihood ratios in diagnostic testing, Child Development, Predictive Value of Tests, Seizures, Intensive care, Medicine, Humans, Monitoring, Physiologic, Psychomotor learning, medicine.diagnostic_test, business.industry, Infant, Newborn, Obstetrics and Gynecology, Signal Processing, Computer-Assisted, General Medicine, Prognosis, Child development, Predictive value of tests, Pediatrics, Perinatology and Child Health, Intensive Care, Neonatal, Observational study, business, Infant, Premature, Follow-Up Studies
-
13
المؤلفون: Gary Williams, Melinda Nolan, Peter Prager, Ian P. Andrews
المصدر: Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies. 4(3)
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Time Factors, Pulmonary Edema, Disease, Critical Care and Intensive Care Medicine, Intensive Care Units, Pediatric, Antiviral Agents, Central nervous system disease, Enterovirus 71, Enterovirus Infections, Medicine, Humans, Encephalitis, Viral, Intensive care medicine, Oxazoles, Enterovirus, Pediatric intensive care unit, Oxadiazoles, biology, business.industry, Outbreak, Infant, medicine.disease, Pulmonary edema, biology.organism_classification, Magnetic Resonance Imaging, Respiration, Artificial, Poliomyelitis, Echocardiography, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business, Encephalitis, Follow-Up Studies
-
14Academic Journal
المؤلفون: Peter Prager, Melinda Nolan, Ian P. Andrews, Gary D. Williams
المصدر: Pediatric Critical Care Medicine; Jul2003, Vol. 4 Issue 3, p377-381, 5p
Full Text Finder