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1The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
المؤلفون: Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela-Adela Vintan, Joseph Symonds, James Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaetan Lesca, Stewart MacLeod, Dragan Marjanovic, Amy McTague, Noemi Nuñez-Enamorado, Eduardo Perez-Palma, M Scott Perry, Karen Pysden, Sophie J Russ-Hall, Ingrid E Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham, Julie Vogt, Shelly Weiss, Elaine Wirrell, Sameer M Zuberi, Dennis Lal, Rikke S Møller, Massimo Mantegazza, Sandrine Cestèle
المصدر: BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instnameمصطلحات موضوعية: Arthrogryposis, Epilepsy, Movement Disorders, gain of function, Migraine with Aura, Infant, Newborn, Infant, Epilepsies, Myoclonic, arthrogryposis, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Gain of Function Mutation, epilepsy, Humans, SCN1A, movement disorder, Neurology (clinical), Spasms, Infantile
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28d78f9a1dfb34105b40b0c635c1e599Test
https://doi.org/10.1093/brain/awac210Test -
2
المؤلفون: Gloria Fritsch, Sara Cartwright, Francisco Angulo-Parker, Ajay Patel, Samuel Stegelmann, Ann Coon, Sarah Delima, Jeffrey S. Raskin, Philip Flory, Josue D. Ordaz, Sarah K Johnson, Virendra Desai
المصدر: Child's Nervous System. 37:3073-3081
مصطلحات موضوعية: Baclofen, medicine.medical_specialty, Muscle Relaxants, Central, business.industry, Infusion Pumps, Implantable, General Medicine, Readmission rate, Intrathecal baclofen, Tertiary care, Surgery, Treatment Outcome, Muscle Spasticity, Pediatrics, Perinatology and Child Health, Humans, Medicine, Revision rate, Neurology (clinical), Neurosurgery, Spasticity, Single institution, medicine.symptom, business, Complication, Injections, Spinal, Retrospective Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a277b094c4c05ec8ab1986c133e48466Test
https://doi.org/10.1007/s00381-021-05290-wTest -
3دورية أكاديمية
المؤلفون: Sarah Delima, Putri, Rahayu, Ririn, Mahsa, Masithah
المصدر: KANDE Jurnal Ilmiah Pendidikan Bahasa dan Sastra Indonesia; Vol 3, No 1 (2022): KANDE: Jurnal Ilmiah Pendidikan Bahasa dan Sastra Indonesia; 131-140 ; 2797-3220
وصف الملف: application/pdf
العلاقة: http://ojs.unimal.ac.id/kande/article/view/8299/3785Test; http://ojs.unimal.ac.id/kande/article/view/8299Test
الإتاحة: https://doi.org/10.29103/jk.v3i1.8299Test
http://ojs.unimal.ac.id/kande/article/view/8299Test -
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المؤلفون: Gloria Fritsch, Shana Riner, Andrew Jea, Jacob Archer, Sarah Delima, Alan P. Yaacoub, Francisco Angulo-Parker, Ann Coon, Sarah K Johnson, Jeffrey S. Raskin
المصدر: Operative Neurosurgery. 17:E103-E104
مصطلحات موضوعية: medicine.medical_specialty, business.industry, medicine.medical_treatment, Diplegia, Rhizotomy, Gross Motor Function Classification System, medicine.disease, 030218 nuclear medicine & medical imaging, Cerebral palsy, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Gait analysis, Spastic diplegia, Spastic, Medicine, Surgery, Neurology (clinical), Spasticity, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05302ad85cc5d0316fe6376d3db3f0b8Test
https://doi.org/10.1093/ons/opy392Test -
5
المؤلفون: Sarah Delima, Laurence E. Walsh, Meredith R. Golomb
المصدر: Journal of Child Neurology. 23:1054-1057
مصطلحات موضوعية: Phenytoin, Parainfluenza Virus Type 3, Lamotrigine, Pharmacology, Lorazepam, Epilepsy, Status Epilepticus, Pharmacotherapy, Bone Marrow, medicine, Humans, Bone Marrow Diseases, Valproic Acid, Paramyxoviridae Infections, Triazines, business.industry, Liver Diseases, Drug Synergism, medicine.disease, Parainfluenza Virus 3, Human, nervous system diseases, medicine.anatomical_structure, Liver, Child, Preschool, Pediatrics, Perinatology and Child Health, Anticonvulsants, Drug Therapy, Combination, Female, Neurology (clinical), Bone marrow, Chemical and Drug Induced Liver Injury, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36e56b58593af5b7633871fa8090b6e9Test
https://doi.org/10.1177/0883073808314156Test