المؤلفون: Alina Ivaniuk, Christian M. Boßelmann, Xiaoming Zhang, Mark St. John, Sara C. Taylor, Gokul Krishnaswamy, Alex Milinovich, Peter F. Aziz, Elia Pestana-Knight, Dennis Lal

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100842- (2024)

مصطلحات موضوعية: CDKL5 deficiency disorder, Electronic health records, Genotype-phenotype correlation, Natural language processing, Phenotyping, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423008518; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/974e6717b8404f0fb9866109a8c3d285

المؤلفون: Heather E. Olson, Carolyn I. Daniels, Isabel Haviland, Lindsay C. Swanson, Caitlin A. Greene, Anne Marie M. Denny, Scott T. Demarest, Elia Pestana-Knight, Xiaoming Zhang, Ahsan N. Moosa, Andrea Fidell, Judith L. Weisenberg, Bernhard Suter, Cary Fu, Jeffrey L. Neul, Alan K. Percy, Eric D. Marsh, Timothy A. Benke, Annapurna Poduri

المصدر: Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: CDKL5 deficiency disorder, Developmental encephalopathy, Epileptic encephalopathy, Ketogenic diet, Vagus nerve stimulator, Movement disorders, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1866-1947; https://doaj.org/toc/1866-1955

URL الوصول: https://doaj.org/article/b2a404d8a1fc4c57b3365dbe6a876c7d

المؤلفون: Sarah E. Brown, Tamara Shella, Elia Pestana-Knight

المصدر: Epilepsy and Behavior Case Reports, Vol 9, Iss , Pp 6-9 (2018)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213323217300919; https://doaj.org/toc/2213-3232

URL الوصول: https://doaj.org/article/4df32b0f89234393abec30dafec98afc

المؤلفون: Emile Moura Coelho da Silva, Alina Ivaniuk, Emily Huth, Costin Leu, Oscar Mancera, Omolara Kolawole, Matthew Wright, Ian Butler, Pauline Filipek, Jeremy Lankford, Michael Watkins, Elia Pestana Knight, Samden Lhatoo, Gretchen Von Allmen, Dennis Lal

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101050- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424001961; https://doaj.org/toc/2949-7744; https://doaj.org/article/accc99b26ec04be98cffea9a8894958d

الاتاحة: https://doi.org/10.1016/j.gimo.2024.101050
https://doaj.org/article/accc99b26ec04be98cffea9a8894958d

المؤلفون: Heather E. Olson (11447084), Carolyn I. Daniels (11447087), Isabel Haviland (11447090), Lindsay C. Swanson (11447093), Caitlin A. Greene (11447096), Anne Marie M. Denny (11447099), Scott T. Demarest (11447102), Elia Pestana-Knight (11262944), Xiaoming Zhang (104062), Ahsan N. Moosa (11447105), Andrea Fidell (11447108), Judith L. Weisenberg (11447111), Bernhard Suter (82998), Cary Fu (4607506), Jeffrey L. Neul (3340254), Alan K. Percy (3340251), Eric D. Marsh (11262947), Timothy A. Benke (11447114), Annapurna Poduri (187582)

مصطلحات موضوعية: Medicine, Neuroscience, Physiology, Pharmacology, Biotechnology, Ecology, Cancer, Mental Health, Plant Biology, CDKL5 deficiency disorder, Developmental encephalopathy, Epileptic encephalopathy, Ketogenic diet, Vagus nerve stimulator, Movement disorders, Clinical trials, Emerging therapies

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Current_neurologic_treatment_and_emerging_therapies_in_CDKL5_deficiency_disorder/16633517

الاتاحة: https://doi.org/10.6084/m9.figshare.16633517.v1

المؤلفون: Elham Abushanab, Elia Pestana Knight, Ahsan N. Moosa

المصدر: Epilepsy & Behavior Reports, Vol 15, Iss , Pp 100432- (2021)

مصطلحات موضوعية: Drug-resistant epilepsy, Lennox-Gastaut syndrome, Childhood leukemia, Acute lymphocytic leukemia, Methotrexate, Neurology. Diseases of the nervous system, RC346-429, Neurophysiology and neuropsychology, QP351-495

Relation: http://www.sciencedirect.com/science/article/pii/S258998642100006X; https://doaj.org/toc/2589-9864; https://doaj.org/article/ac06ced9e0e3492b8956de03791fd4a0

الاتاحة: https://doi.org/10.1016/j.ebr.2021.100432
https://doaj.org/article/ac06ced9e0e3492b8956de03791fd4a0

المؤلفون: Heather E. Olson, Scott Demarest, Elia Pestana‐Knight, Ahsan N. Moosa, Xiaoming Zhang, José R. Pérez‐Pérez, Judy Weisenberg, Erin O’Connor Prange, Eric D. Marsh, Rajsekar R. Rajaraman, Bernhard Suter, Akshat Katyayan, Isabel Haviland, Carolyn Daniels, Bo Zhang, Caitlin Greene, Michelle DeLeo, Lindsay Swanson, Jamie Love‐Nichols, Timothy Benke, Chellamani Harini, Annapurna Poduri

المصدر: Epilepsia.

مصطلحات موضوعية: Neurology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8919c3dabfa8b038546daa4d63e89dbe
https://doi.org/10.1111/epi.17630

المؤلفون: Ifrah Zawar, Elia Pestana Knight

المصدر: Handbook of Pediatric Epilepsy Case Studies, Second Edition ISBN: 9781003296478

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9383ff5e9607e8c3b56a166bac3caa32
https://doi.org/10.1201/9781003296478-43

المؤلفون: Swetha Padiyar, Neil Friedman, Elia Pestana-Knight, Linda Franic, Sarah Worley, Hany Aly

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::188e312aa1a71f5b2df51e53da34c1d6
https://doi.org/10.21203/rs.3.rs-2734445/v1

المؤلفون: Swetha Padiyar, Neil Friedman, Elia Pestana-Knight, Ahsan Mossa-Naduvil, Linda Franic, Sarah Worley, Hany Aly

المصدر: Pediatric Research.

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::25804819fec8bd98e02f58c642df0327
https://doi.org/10.1038/s41390-023-02520-6

المؤلفون: Albert Aboseif, Karlo Toljan, Ahmad Mahadeen, Andrew Zeft, Ahsan N. Moosa, Elia Pestana-Knight, Aaron Abrams

المصدر: Journal of Neuroimmunology. 379:578107

مصطلحات موضوعية: Neurology, Immunology, Immunology and Allergy, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::35122a6c3a1374b07d47ec2d073bd862
https://doi.org/10.1016/j.jneuroim.2023.578107

المؤلفون: Ahsan N.V. Moosa, Andres Maldonado, William Bingaman, Dennis Lal, Amr Morsi, Elia Pestana-Knight

المصدر: World Neurosurgery. 137:357-361

مصطلحات موضوعية: medicine.medical_specialty, Subarachnoid hemorrhage, medicine.diagnostic_test, business.industry, medicine.medical_treatment, Vasospasm, Gene mutation, medicine.disease, Hemispherectomy, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Cerebral vasospasm, Cerebral blood flow, 030220 oncology & carcinogenesis, Internal medicine, medicine, Cardiology, Surgery, Neurology (clinical), business, 030217 neurology & neurosurgery, Cerebral angiography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::210a2f7b3b504a526a1182cb9bae41e5
https://doi.org/10.1016/j.wneu.2020.02.020

المؤلفون: William Hong, Isabel Haviland, Elia Pestana-Knight, Judith L. Weisenberg, Scott Demarest, Eric D. Marsh, Heather E. Olson

المصدر: CNS Drugs

مصطلحات موضوعية: Psychiatry and Mental health, Spasm, Epilepsy, Seizures, Quality of Life, Humans, Pharmacology (medical), Neurology (clinical), Protein Serine-Threonine Kinases, Epileptic Syndromes, Spasms, Infantile, Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81aeba4dc8610178373b84e010858133
https://pubmed.ncbi.nlm.nih.gov/35633486

المؤلفون: Ahsan N.V. Moosa, Karlo Toljan, Elia Pestana-Knight

المصدر: Epileptic disorders : international epilepsy journal with videotape. 23(6)

مصطلحات موضوعية: medicine.medical_specialty, medicine.diagnostic_test, Eye Movements, business.industry, Retinal Detachment, Retinal detachment, Eye movement, Electroencephalography, General Medicine, medicine.disease, Epilepsy, Neurology, Ophthalmology, medicine, Humans, In patient, Neurology (clinical), Epilepsies, Partial, business, Artifacts

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e7536422d513fa7e6e343f0c9a8f14e
https://pubmed.ncbi.nlm.nih.gov/34642128

المؤلفون: Elia Pestana-Knight, Jenny Downs, Bernhard Suter, Heather E. Olson, Eric D. Marsh, Gena Heidary, Orrin Devinsky, Jacinta Saldaris, Peter Jacoby, Helen Leonard, Tim A. Benke, Judith L.Z. Weisenberg, Scott Demarest, Dana Price, Rajsekar Rajaraman

المصدر: Journal of child neurology, vol 36, iss 11
J Child Neurol

مصطلحات موضوعية: Content validation, Male, Psychometrics, Outcome Assessment, think aloud, Center of excellence, content validity, Clinical Sciences, Infantile, Article, Spasms, Interviews as Topic, Clinical Research, Surveys and Questionnaires, Outcome Assessment, Health Care, Content validity, Humans, Clinical severity, Neurologists, Think aloud protocol, Child, Measure (data warehouse), Neurology & Neurosurgery, outcome measure, Outcome measures, Patient Acuity, Neurosciences, Reproducibility of Results, Brain Disorders, Clinical trial, Health Care, CDKL5 deficiency disorder, clinical severity, Pediatrics, Perinatology and Child Health, Female, Cognitive Sciences, Neurology (clinical), Psychology, Spasms, Infantile, Epileptic Syndromes, Clinical psychology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c741b411d220be5d573f4f41361e2bd
https://escholarship.org/uc/item/4fq5t8x6

المؤلفون: Lindsay C. Swanson, Jeffrey L. Neul, Elia Pestana-Knight, Scott T. Demarest, Annapurna Poduri, Heather E. Olson, Alan K. Percy, Anne Marie M. Denny, Ahsan N.V. Moosa, Caitlin A. Greene, Cary Fu, Carolyn I. Daniels, Judith L.Z. Weisenberg, Bernhard Suter, Eric D. Marsh, Andrea Fidell, Xiaoming Zhang, Tim A. Benke, Isabel Haviland

المصدر: Journal of Neurodevelopmental Disorders
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Neurology, Movement disorders, Cognitive Neuroscience, medicine.medical_treatment, Population, Emerging therapies, Neurosciences. Biological psychiatry. Neuropsychiatry, Protein Serine-Threonine Kinases, Pathology and Forensic Medicine, Epilepsy, Clinical trials, medicine, Corpus callosotomy, Humans, education, education.field_of_study, Vagus nerve stimulator, business.industry, Epileptic encephalopathy, Research, Developmental encephalopathy, Ketogenic diet, medicine.disease, Clinical trial, CDKL5 deficiency disorder, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, business, Epileptic Syndromes, Spasms, Infantile, Natural history study, RC321-571

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1667c9582f240ad3fd78082a19d2684
http://europepmc.org/articles/PMC8447578

المؤلفون: Helen Leonard, Elia Pestana-Knight, Lindsay C. Swanson, Orrin Devinsky, Heather E. Olson, J. Helen Cross, Dennis Lal, Scott Demarest, Tim A. Benke, Sumaiya Iqbal

المصدر: Pediatr Neurol

مصطلحات موضوعية: Models, Molecular, Vagus Nerve Stimulation, Gastrointestinal Diseases, Protein Conformation, Developmental Disabilities, Encephalopathy, Vision Disorders, CDKL5, Disease, Protein Serine-Threonine Kinases, Biology, Bioinformatics, Article, Corpus Callosum, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Cyclin-dependent kinase, 030225 pediatrics, medicine, Humans, Missense mutation, Precision Medicine, Gene, Movement Disorders, Electroencephalography, medicine.disease, Hypotonia, Alternative Splicing, Neurology, Protein kinase domain, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Anticonvulsants, Neurology (clinical), medicine.symptom, Diet, Ketogenic, Epileptic Syndromes, Spasms, Infantile, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db7998add67c8bc58618689afe601434
https://doi.org/10.1016/j.pediatrneurol.2019.02.015

المؤلفون: Ifrah Zawar, Martha Guadalupe Garcia Toribio, Xiaowei Xu, Rawyah Saleh Alnakhli, Daniela Benech, Ahsan Moosa Naduvil Valappil, Elaine Wyllie, Richard Burgess, Prakash Kotagal, Deepak Lachhwani, Ajay Gupta, Elia Pestana Knight

المصدر: Epilepsy research. 181

مصطلحات موضوعية: Neurology, Epilepsy, Absence, Seizures, Eyelids, Humans, Electroencephalography, Epilepsies, Myoclonic, Epilepsy, Generalized, Female, Neurology (clinical), Child, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04f23f8a0dec2f01def5d6f7bcba639c
https://pubmed.ncbi.nlm.nih.gov/35180638

المؤلفون: Jacinta Saldaris (11262938), Judith Weisenberg (11262941), Elia Pestana-Knight (11262944), Eric D. Marsh (11262947), Bernhard Suter (82998), Rajsekar Rajaraman (11262950), Gena Heidary (11262953), Heather E. Olson (11262956), Orrin Devinsky (356636), Dana Price (11262959), Peter Jacoby (140921), Helen Leonard (226024), Tim A. Benke (11262962), Scott Demarest (6292112), Jenny Downs (847501)

مصطلحات موضوعية: Neuroscience, Neurology and Neuromuscular Diseases, Paediatrics, CDKL5 deficiency disorder, clinical severity, outcome measure, think aloud, content validity

Relation: https://figshare.com/articles/journal_contribution/Supplemental_Material_sj-docx-1-jcn-10_1177_08830738211019576_-_Content_Validation_of_Clinician-Reported_Items_for_a_Severity_Measure_for_CDKL5_Deficiency_Disorder/15153413

الاتاحة: https://doi.org/10.25384/sage.15153413.v1

المؤلفون: Krystel Tossone, Julie H. Corder, Elia Pestana-Knight, Tatiana Falcone, Angela Miniard, Diane Zemba, Carrie Cuomo, Jane Timmons-Mitchell, Yang Cai, Deepak Lachhwani

المصدر: Journal of the American Academy of Child & Adolescent Psychiatry. 60:S185-S186

مصطلحات موضوعية: Psychiatry and Mental health, Epilepsy, medicine.medical_specialty, business.industry, Developmental and Educational Psychology, medicine, medicine.disease, Psychiatry, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6bea39012943e8424b4d7f2f06362b99
https://doi.org/10.1016/j.jaac.2021.09.159