المساهمون: Seyeon Kim, Sara Baldassari, Nam Suk Sim, Mathilde Chipaux, Georg Dorfmüller, Dong Seok Kim, Won Seok Chang, Valérie Taly, Jeong Ho Lee, Stéphanie Baulac, Kim, Dong Seok

مصطلحات موضوعية: Adolescent, Brain, Cell-Free Nucleic Acids / cerebrospinal fluid, Child, Preschool, Drug Resistant Epilepsy / cerebrospinal fluid, Drug Resistant Epilepsy / genetics, Female, Humans, Infant, Male, Mutation

العلاقة: ANNALS OF NEUROLOGY; J00166; OAK-2022-04642; OAK-2022-04643; OAK-2022-08789; https://ir.ymlib.yonsei.ac.kr/handle/22282913/190445Test; T999202167; ANNALS OF NEUROLOGY, Vol.89(6) : 1248-1252, 2021-06

الإتاحة: https://doi.org/10.1002/ana.26080Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/190445Test

المؤلفون: Datta, Alexandre N, Bahi-Buisson, Nadia, Bienvenu, Thierry, Buerki, Sarah E, Gardiner, Fiona, Cross, J Helen, Heron, Bénédicte, Kaminska, Anna, Korff, Christian, Lepine, Anne, Lesca, Gaetan, McTague, Amy, Mefford, Heather C, Mignot, Cyrill, Milh, Matthieu, Piton, Amélie, Pressler, Ronit M, Ruf, Susanne, Sadleir, Lynette G, de Saint Martin, Anne, Van Gassen, Koen, Verbeek, Nienke E, Ville, Dorothée, Villeneuve, Nathalie, Zacher, Pia, Scheffer, Ingrid E, Lemke, Johannes R

المصدر: ISSN: 0013-9580 ; Epilepsia, vol. 62, no. 2 (2021) p. 325-334.

مصطلحات موضوعية: info:eu-repo/classification/ddc/618, ALG13, West syndrome, Developmental and epileptic encephalopathy, Epileptic spasms, Adrenocorticotropic Hormone / therapeutic use, Anticonvulsants / therapeutic use, Child, Preschool, Developmental Disabilities / genetics, Developmental Disabilities / physiopathology, Diet, Ketogenic, Drug Resistant Epilepsy / genetics, Drug Resistant Epilepsy / physiopathology, Drug Resistant Epilepsy / therapy, Dyskinesias / genetics, Dyskinesias / physiopathology, Electroencephalography, Epileptic Syndromes / genetics, Epileptic Syndromes / physiopathology, Epileptic Syndromes / therapy, Female, Glucocorticoids / therapeutic use, Hormones / therapeutic use, Humans, Infant, Language Development Disorders / genetics, Language Development Disorders / physiopathology, Magnetic Resonance Imaging

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33410528; https://archive-ouverte.unige.ch/unige:170836Test; unige:170836

الإتاحة: https://doi.org/10.1111/epi.16761Test
https://archive-ouverte.unige.ch/unige:170836Test

المؤلفون: Hoogland, Govert, Hendriksen, Ruben G F, Slegers, Rutger J, Hendriks, Marc P H, Schijns, Olaf E M G, Aalbers, Marlien W, Vles, Johan S H

المصدر: Hoogland , G , Hendriksen , R G F , Slegers , R J , Hendriks , M P H , Schijns , O E M G , Aalbers , M W & Vles , J S H 2019 , ' The expression of the distal dystrophin isoforms Dp140 and Dp71 in the human epileptic hippocampus in relation to cognitive functioning ' , Hippocampus , vol. 29 , no. 2 , pp. 102-110 . https://doi.org/10.1002/hipo.23015Test

مصطلحات موضوعية: Adult, Cognition/physiology, Cognition Disorders/genetics, Drug Resistant Epilepsy/genetics, Dystrophin/biosynthesis, Female, Gene Expression, Hippocampus/metabolism, Humans, Male, Memory Disorders/genetics, Neuropsychological Tests, Protein Isoforms/biosynthesis

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/2aa2d681-6349-4eb3-ab28-8c954d4ec0abTest

الإتاحة: https://doi.org/10.1002/hipo.23015Test
https://hdl.handle.net/11370/2aa2d681-6349-4eb3-ab28-8c954d4ec0abTest
https://research.rug.nl/en/publications/2aa2d681-6349-4eb3-ab28-8c954d4ec0abTest
https://pure.rug.nl/ws/files/129766691/The_expression_of_the_distal_dystrophin_isoforms_Dp140_and_Dp71_in_the_human_epileptic_hippocampus_in_relation_to_cognitive_functioning.pdfTest

المؤلفون: Benova, Barbora, Sanders, Maurits W.C.B., Uhrova-Meszarosova, Anna, Belohlavkova, Anezka, Hermanovska, Barbora, Novak, Vilem, Stanek, David, Vlckova, Marketa, Zamecnik, Josef, Aronica, Eleonora, Braun, Kees P.J., Koeleman, Bobby P.C., Jansen, Floor E., Krsek, Pavel

المساهمون: Opleiding Neurologie, Pathologie, Neurologen, Brain, Genetica, Genetica Groep Koeleman, Child Health, Circulatory Health, Cancer

مصطلحات موضوعية: Epilepsy surgery, Focal cortical dysplasia, Focal epilepsy, GATOR1, Malformations of cortical development, Targeted gene panel sequencing, Drug Resistant Epilepsy/genetics, Malformations of Cortical Development/genetics, Humans, Male, Magnetic Resonance Imaging, Tumor Suppressor Proteins/genetics, Phenotype, Adolescent, GTPase-Activating Proteins/genetics, Germ-Line Mutation, Female, Retrospective Studies, Child, Clinical Neurology, Pediatrics, Perinatology, and Child Health, Case Reports, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/445169Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/445169Test

المؤلفون: Olaf E. M. G. Schijns, Marlien W. Aalbers, Marc P. H. Hendriks, Govert Hoogland, Johan S.H. Vles, Ruben G. F. Hendriksen, Rutger J. Slegers

المساهمون: MUMC+: MA Niet Med Staf Neurochirurgie (9), RS: MHeNs - R3 - Neuroscience, Klinische Neurowetenschappen, Promovendi MHN, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, MUMC+: MA Med Staf Spec Neurochirurgie (9), MUMC+: MA Niet Med Staf Neurologie (9)

المصدر: Hippocampus, 29, 102-110
Hippocampus, 29(2), 102-110. Wiley
Hippocampus, 29(2), 102-110. WILEY-LISS
Hippocampus, 29, 2, pp. 102-110

مصطلحات موضوعية: Male, Drug Resistant Epilepsy, Wechsler Memory Scale, Protein Isoforms/biosynthesis, Duchenne muscular dystrophy, Gene Expression, Neuropsychological Tests, Hippocampus, WESTERN-BLOT, memory, Dystrophin, Cognition, 0302 clinical medicine, Protein Isoforms, Medicine, Dystrophin/biosynthesis, Episodic memory, Cognition/physiology, medicine.diagnostic_test, biology, 05 social sciences, WECHSLER MEMORY SCALE, Neuropsychological test, intelligence, temporal lobe epilepsy, Drug Resistant Epilepsy/genetics, hippocampal sclerosis, Female, GLYCOPROTEIN COMPLEX, Adult, BRAIN DYSTROPHIN, Cognitive Neuroscience, Hippocampus/metabolism, 050105 experimental psychology, Duchenne muscular dystrophy, hippocampal sclerosis, intelligence, memory, temporal lobe epilepsy, Temporal lobe, DUCHENNE MUSCULAR-DYSTROPHY, 03 medical and health sciences, Visual memory, Humans, 0501 psychology and cognitive sciences, Memory Disorders, Hippocampal sclerosis, Neuro- en revalidatiepsychologie, business.industry, Neuropsychology and rehabilitation psychology, QUANTIFICATION, medicine.disease, DELETIONS, INTELLECTUAL IMPAIRMENT, biology.protein, Memory Disorders/genetics, Cognition Disorders, business, Cognition Disorders/genetics, Neuroscience, 030217 neurology & neurosurgery, SYSTEM, TASK-FORCE

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec47037727b1c9727227cb968ce15d9aTest
http://hdl.handle.net/2066/200761Test