المؤلفون: Kees P.J. Braun, Marie-Claire Y. de Wit, Floor E. Jansen, Hanna M. Hulshof, Iris E. Overwater, Juliette Brenner

المساهمون: Neurology

المصدر: European Journal of Paediatric Neurology, 25, 113-119. W.B. Saunders

مصطلحات موضوعية: Adult, Counseling, Male, Parents, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Emotional support, Adolescent, Nationwide survey, 03 medical and health sciences, Tuberous sclerosis, 0302 clinical medicine, Quality of life (healthcare), Tuberous Sclerosis, hemic and lymphatic diseases, 030225 pediatrics, Surveys and Questionnaires, medicine, Humans, Child, neoplasms, Netherlands, business.industry, Treatment options, General Medicine, medicine.disease, nervous system diseases, Family medicine, Child, Preschool, Pediatrics, Perinatology and Child Health, Quality of Life, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Cardiac symptoms

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09da15da6443a22156037b70309f44fc
https://pure.eur.nl/en/publications/3e6d7522-b6d7-4497-9007-227ff3c83f8f

المؤلفون: André B. Rietman, Iris E. Overwater, Marie Claire Y. de Wit, Agnies M van Eeghen

المصدر: Therapeutics and Clinical Risk Management. 15:951-955

مصطلحات موضوعية: Oncology, Drug, Refractory seizures, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, media_common.quotation_subject, 030204 cardiovascular system & hematology, Epileptogenesis, 03 medical and health sciences, Tuberous sclerosis, Epilepsy, 0302 clinical medicine, Internal medicine, medicine, Pharmacology (medical), 030212 general & internal medicine, General Pharmacology, Toxicology and Pharmaceutics, PI3K/AKT/mTOR pathway, Loss function, media_common, Chemical Health and Safety, Everolimus, business.industry, General Medicine, medicine.disease, business, Safety Research, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f36511ca1201906757fefa0689b87de7
https://doi.org/10.2147/tcrm.s145630

المؤلفون: Iris E, Overwater, André B, Rietman, Agnies M, van Eeghen, Marie Claire Y, de Wit

المصدر: Therapeutics and Clinical Risk Management

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, mTOR, epilepsy, epileptogenesis, Review

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b8222e2ebd82ac10bee9493ba5697081
http://europepmc.org/articles/PMC6666377

المؤلفون: Henriëtte A. Moll, Thijs van der Vaart, Marie-Claire Y. de Wit, Leontine W. ten Hoopen, Floor E. Jansen, André B. Rietman, Iris E. Overwater, Dimitris Rizopoulos, Sabine E. Mous, Karen Bindels-de Heus, Ype Elgersma

المساهمون: Neurology, Child and Adolescent Psychiatry / Psychology, Pediatrics, Epidemiology, Neurosciences

المصدر: Neurology, 93(2), E200-E209. Lippincott Williams & Wilkins

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, law.invention, Executive Function, 03 medical and health sciences, Tuberous sclerosis, 0302 clinical medicine, Double-Blind Method, Randomized controlled trial, Tuberous Sclerosis, law, Intellectual Disability, Intellectual disability, medicine, Humans, Everolimus, Cognitive skill, Autistic Disorder, Child, Social Behavior, Intelligence Tests, Problem Behavior, business.industry, Communication, TOR Serine-Threonine Kinases, Neuropsychology, Cognition, medicine.disease, 030104 developmental biology, Quality of Life, Autism, Female, Neurology (clinical), Sleep, business, Immunosuppressive Agents, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ccbdbd8230c5617fdf280ce6f5a5f39
https://doi.org/10.1212/wnl.0000000000007749

المؤلفون: Hester F. Lingsma, A.m. Van Den Ouweland, Barbara J. H. Verhaar, M. C. Y. de Wit, Iris E. Overwater, H. A. Moll, L. W. (Leontine) ten Hoopen, Mark Nellist, G. C. B. Bindels de Heus, Ype Elgersma

المساهمون: Vascular Medicine, Neurology, Public Health, Pediatrics, Clinical Genetics, Child and Adolescent Psychiatry / Psychology, Neurosciences

المصدر: Journal of neurology, 264(1), 161-167. D. Steinkopff-Verlag
Journal of Neurology
Journal of Neurology, 264(1), 161-167. D. Steinkopff-Verlag

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Intelligence, Clinical Neurology, Intellectual disability, Psychology, Child, 03 medical and health sciences, Epilepsy, Child Development, Cognition, 0302 clinical medicine, Tuberous Sclerosis, Cognitive development, medicine, Humans, Age of Onset, Child, Retrospective Studies, Intelligence Tests, Original Communication, Intelligence quotient, Retrospective cohort study, Prognosis, medicine.disease, Child development, 030104 developmental biology, Neurology, Tuberous sclerosis complex, Child, Preschool, Multivariate Analysis, Cohort, Regression Analysis, Female, Neurology (clinical), Age of onset, Psychology, 030217 neurology & neurosurgery, Follow-Up Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aad72c5f46036098531893044e4a9d3f
https://pure.eur.nl/en/publications/4facf334-fca3-4bee-b6d7-be4cd2f9f96f

المؤلفون: Agnies M van Eeghen, Marie-Claire Y. de Wit, Ans M.W. van den Ouweland, Maarten H. Lequin, Mark Nellist, Henriëtte A. Moll, Marianne Hoogeveen-Westerveld, Kimberley Bm Hanemaayer, Iris E. Overwater, Rob Swenker, Emma L. van der Ende

المساهمون: Neurology, Clinical Genetics, Radiology & Nuclear Medicine, Pediatrics

المصدر: European Journal of Human Genetics, 24(12), 1688-1695. Nature Publishing Group

مصطلحات موضوعية: Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Adolescent, Genotype, Biology, Article, Tuberous Sclerosis Complex 1 Protein, Temporal lobe, 03 medical and health sciences, Tuberous sclerosis, 0302 clinical medicine, Tuberous Sclerosis, Tuberous Sclerosis Complex 2 Protein, Subependymal nodules, Genetics, medicine, Humans, Child, Genetics (clinical), medicine.diagnostic_test, Tumor Suppressor Proteins, Brain, Infant, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, Phenotype, nervous system diseases, HEK293 Cells, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, Mutation, Female, TSC1, TSC2, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed87053c67916db9312de5b7b17bafca
https://doi.org/10.1038/ejhg.2016.85

المؤلفون: Caspar W. N. Looman, Floor E. Jansen, Henriëtte A. Moll, Marie-Claire Y. de Wit, Ype Elgersma, Iris E. Overwater, Dimitris Rizopoulos, Perumpillichira J. Cherian, Tafadzwa M. Sibindi, Karen Bindels-de Heus, André B. Rietman

المساهمون: Neurology, Pediatrics, Public Health, Epidemiology, Neurosciences

المصدر: Neurology, 87(10), 1011-1018. Lippincott Williams & Wilkins

مصطلحات موضوعية: Male, 0301 basic medicine, Drug Resistant Epilepsy, Pediatrics, medicine.medical_specialty, Current Literature in Clinical Science, Mechanistic Target of Rapamycin Complex 1, Neuropsychological Tests, law.invention, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Randomized controlled trial, Tuberous Sclerosis, law, Clinical endpoint, Humans, Medicine, Child, Sirolimus, Cross-Over Studies, Intention-to-treat analysis, business.industry, TOR Serine-Threonine Kinases, Infant, medicine.disease, Crossover study, Treatment Outcome, 030104 developmental biology, Epilepsy in children, Child, Preschool, Multiprotein Complexes, Anticonvulsants, Drug Therapy, Combination, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eed3e1b6f521a452858c8d9824237843
https://doi.org/10.1212/wnl.0000000000003077

المؤلفون: Carmen Guerra, Jadwiga Schreiber, Dick Jaarsma, Thijs van der Vaart, Alberto J. Schuhmacher, Ype Elgersma, Steven A. Kushner, Jeffrey Stedehouder, Iris E. Overwater, Laura-Anne Grimbergen

المساهمون: Fundación Ramón Areces, Instituto de Salud Carlos III, Neurosciences, Neurology, Psychiatry

المصدر: Scientific Reports
Scientific Reports, 7:1256. Nature Publishing Group
Repisalud
Instituto de Salud Carlos III (ISCIII)
Scientific Reports, Vol 7, Iss 1, Pp 1-19 (2017)

مصطلحات موضوعية: 0301 basic medicine, MAPK/ERK pathway, MAP Kinase Signaling System, Science, Mutation, Missense, Biology, RASopathy, Article, Proto-Oncogene Proteins p21(ras), 03 medical and health sciences, Mice, Germline mutation, Downregulation and upregulation, Costello syndrome, medicine, Animals, Cognitive Dysfunction, HRAS, Genetics, Neurons, Multidisciplinary, Depression, Costello Syndrome, Brain, Long-term potentiation, Hypertrophy, medicine.disease, Disease Models, Animal, 030104 developmental biology, Medicine, Noonan syndrome, Neuroscience

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::006b81764a117d93924fa61dd641dc6b
http://europepmc.org/articles/PMC5430680

المؤلفون: Marie-Claire Y. de Wit, Iris E. Overwater

المصدر: Neurology. 88(10)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Uncontrolled Study, law.invention, 03 medical and health sciences, Tuberous sclerosis, Epilepsy, 0302 clinical medicine, Randomized controlled trial, law, Tuberous Sclerosis, medicine, Humans, 030212 general & internal medicine, Child, Response rate (survey), Sirolimus, Everolimus, business.industry, TOR Serine-Threonine Kinases, medicine.disease, Epilepsy in children, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cdf034da1cf2171da71cdce636b2ed3
https://pubmed.ncbi.nlm.nih.gov/28265042

المؤلفون: Gwendolyn C. Dieleman, Maarten H. Lequin, Iris E. Overwater, Sabine E. Mous, Rita Vidal Gato, Leontine W. ten Hoopen, J.J. Duvekot, Marie Claire Y. de Wit

المساهمون: Child and Adolescent Psychiatry / Psychology, Erasmus MC other, Internal Medicine, Neurology

المصدر: European Child & Adolescent Psychiatry
European child & adolescent psychiatry, 27(6), 753. D. Steinkopff-Verlag
European Child & Adolescent Psychiatry, 27(6), 753-765. D. Steinkopff-Verlag

مصطلحات موضوعية: Male, Pediatrics, Autism Spectrum Disorder, Autism, Intelligence, Severity of Illness Index, Cognitive functioning, Tuberous sclerosis, 0302 clinical medicine, Cognition, Tuberous Sclerosis, Child and adolescent psychiatry, Developmental and Educational Psychology, Quantitative autistic traits, Child, 05 social sciences, General Medicine, Original Contribution, Perinatology, and Child Health, Malformations of Cortical Development, Psychiatry and Mental health, Phenotype, Autism spectrum disorder, Child, Preschool, Female, Radial migration lines, Psychology, 050104 developmental & child psychology, Mediation (statistics), medicine.medical_specialty, Adolescent, macromolecular substances, behavioral disciplines and activities, 03 medical and health sciences, Severity of illness, mental disorders, medicine, Journal Article, Humans, 0501 psychology and cognitive sciences, Pediatrics, Perinatology, and Child Health, Autistic Disorder, Psychiatry, Tubers, Cortical dysplasia, medicine.disease, Epidemiologic Studies, Pediatrics, Perinatology and Child Health, 030217 neurology & neurosurgery

وصف الملف: image/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c542db168c6aaba7c21de09503e61c7b
https://pubmed.ncbi.nlm.nih.gov/29063203

المؤلفون: Rianne Oostenbrink, Marie-Claire Y. de Wit, Iris E. Overwater, Thijs van der Vaart, Ype Elgersma

المساهمون: Neurology, Neurosciences, Pediatrics

المصدر: NeuroPraxis, 5

مصطلحات موضوعية: media_common.quotation_subject, Art, Theology, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe51bc80d3cdd73303d2aa32cdc77cda
https://doi.org/10.1007/s12474-013-0025-9

المؤلفون: Caroline F. Bruinsma, Iris E. Overwater, Susanna M.I. Goorden, Jadwiga Schreiber, Elvedin Aganović, Mark Nellist, Marianne Hoogeveen-Westerveld, Nils Z. Borgesius, Elisabeth Abs, Ype Elgersma

المصدر: Annals of Neurology. 74:569-579

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, medicine.diagnostic_test, Transgene, Long-term potentiation, mTORC1, Biology, medicine.disease, Tuberous sclerosis, Epilepsy, medicine.anatomical_structure, Endocrinology, Neurology, Western blot, Internal medicine, medicine, Immunohistochemistry, Neurology (clinical), TSC1

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5a0eb5ad4eb0c7dcc86c3dc620b57296
https://doi.org/10.1002/ana.23943

المؤلفون: Marie-Claire Y. de Wit, André B. Rietman, Iris E. Overwater, Leontine W. ten Hoopen, Yvonne Vergouwe, Karen Bindels-de Heus, Henriëtte A. Moll

المساهمون: Neurology, Pediatrics, Child and Adolescent Psychiatry / Psychology, Public Health

المصدر: Epilepsia, 56(8), 1239-1345. Wiley-Blackwell Publishing Ltd

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, Vagus Nerve Stimulation, medicine.medical_treatment, Intelligence, Vigabatrin, Neurosurgical Procedures, Epilepsy, Young Adult, Tuberous Sclerosis, medicine, Humans, Epilepsy surgery, Child, Intelligence Tests, Valproic Acid, business.industry, Remission Induction, Infant, Carbamazepine, medicine.disease, Prognosis, Treatment Outcome, Neurology, Epilepsy in children, Anesthesia, Child, Preschool, Anticonvulsants, Female, Neurology (clinical), Levetiracetam, Epilepsies, Partial, business, Diet, Ketogenic, Spasms, Infantile, Ketogenic diet, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65f0b120d834720ecef33520aa103f24
https://pure.eur.nl/en/publications/df23179f-a714-4533-a7f3-23abf78b855f

المؤلفون: Iris E. Overwater, Ype Elgersma, Rianne Oostenbrink, Thijs van der Vaart, Henriëtte A. Moll

المساهمون: Neurosciences, Erasmus MC other, Pediatrics

المصدر: JAMA Neurology, 72(9), 1052-1060. American Medical Association

مصطلحات موضوعية: medicine.medical_specialty, Clinical Trials as Topic, business.industry, Phenylketonurias, MEDLINE, Genetic Diseases, Inborn, Consolidated Standards of Reporting Trials, Disease, PsycINFO, Jadad scale, law.invention, Clinical trial, Randomized controlled trial, law, Medicine, Humans, Neurology (clinical), business, Intensive care medicine, Psychiatry, Cognition Disorders

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6ca755ef2daba87aa72613f5b6a9ee6
https://pure.eur.nl/en/publications/2e88c7ae-f9bc-40c8-8721-004914fb5130

المؤلفون: Iris E, Overwater, André B, Rietman, Ype, Elgersma, Marie-Claire Y, de Wit

المصدر: Annals of neurology. 75(1)

مصطلحات موضوعية: Male, Sirolimus, Epilepsy, Tuberous Sclerosis, Quality of Life, Brain, Humans, Anticonvulsants, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::63951ad83be1814fbafc72b72cc87eb8
https://pubmed.ncbi.nlm.nih.gov/24243553

المؤلفون: Elisabeth, Abs, Susanna M I, Goorden, Jadwiga, Schreiber, Iris E, Overwater, Marianne, Hoogeveen-Westerveld, Caroline F, Bruinsma, Elvedin, Aganović, Nils Z, Borgesius, Mark, Nellist, Ype, Elgersma

المصدر: Annals of neurology. 74(4)

مصطلحات موضوعية: Neurons, Sirolimus, Epilepsy, Dose-Response Relationship, Drug, TOR Serine-Threonine Kinases, Tumor Suppressor Proteins, Long-Term Potentiation, Electroencephalography, Mice, Transgenic, Mechanistic Target of Rapamycin Complex 1, Hippocampus, Tuberous Sclerosis Complex 1 Protein, Disease Models, Animal, Mice, Gene Expression Regulation, Receptors, Estrogen, Multiprotein Complexes, ras Proteins, Animals, Carrier Proteins, Immunosuppressive Agents, Sequence Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e5c14fb591731b06c34e32195bd6caec
https://pubmed.ncbi.nlm.nih.gov/23720219

المؤلفون: Gcb Bindels-de Heus, Henriëtte A. Moll, M-Cy De Wit, André B. Rietman, Iris E. Overwater, Ype Elgersma

المصدر: European Journal of Paediatric Neurology. 17:S14-S15

مصطلحات موضوعية: Clinical trial, Pediatrics, medicine.medical_specialty, Tuberous sclerosis, business.industry, Pediatrics, Perinatology and Child Health, Intractable epilepsy, Physical therapy, Medicine, Neurology (clinical), General Medicine, business, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::77f4dc9e238b1fb9385c78759dd33043
https://doi.org/10.1016/s1090-3798(13)70047-3