المؤلفون: Géza Berecki, Katherine B. Howell, Jacqueline Heighway, Nelson Olivier, Jill Rodda, Isabella Overmars, Danique R. M. Vlaskamp, Tyson L. Ware, Simone Ardern-Holmes, Gaetan Lesca, Michael Alber, Pierangelo Veggiotti, Ingrid E. Scheffer, Samuel F. Berkovic, Markus Wolff, Steven Petrou

المصدر: Communications Biology, Vol 5, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2399-3642Test

الوصول الحر: https://doaj.org/article/7e36edaad8f740ddbb8634f082580efcTest

المؤلفون: Sueanne Chear, Sharn Perry, Richard Wilson, Aidan Bindoff, Jana Talbot, Tyson L. Ware, Alexandra Grubman, James C. Vickers, Alice Pébay, Jonathan B. Ruddle, Anna E. King, Alex W. Hewitt, Anthony L. Cook

المصدر: Disease Models & Mechanisms, Vol 15, Iss 12 (2022)

مصطلحات موضوعية: juvenile neuronal ceroid lipofuscinosis, batten disease, dementia, induced pluripotent stem cells, microelectrode array, proteomics, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

العلاقة: http://dmm.biologists.org/content/15/12/dmm049651Test; https://doaj.org/toc/1754-8403Test; https://doaj.org/toc/1754-8411Test

الوصول الحر: https://doaj.org/article/8506b6697e2647a08022c28a7bd9530cTest

المؤلفون: Tyson L. Ware, Shannon R. Huskins, Bronwyn E. Grinton, Yu‐Chi Liu, Mark F. Bennett, Michael Harvey, Jacinta McMahon, Danae Andreopoulos‐Malikotsinas, Melanie Bahlo, Katherine B. Howell, Michael S. Hildebrand, John A. Damiano, Alexander Rosenfeld, Mark T. Mackay, Simone Mandelstam, Richard J. Leventer, A. Simon Harvey, Jeremy L. Freeman, Ingrid E. Scheffer, Dean L. Jones, Samuel F. Berkovic

المصدر: Epilepsia Open, Vol 4, Iss 3, Pp 504-510 (2019)

مصطلحات موضوعية: developmental and epileptic encephalopathy, incidence, whole exome sequencing, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2470-9239Test

الوصول الحر: https://doaj.org/article/9380e8af0ae643929c694264aa7cbbd3Test

المؤلفون: Géza Berecki, Katherine L. Helbig, Tyson L. Ware, Bronwyn Grinton, Cara M. Skraban, Eric D. Marsh, Samuel F. Berkovic, Steven Petrou

المصدر: International Journal of Molecular Sciences; Volume 21; Issue 17; Pages: 6333

مصطلحات موضوعية: CACNA1G mutation, voltage-dependent T-type calcium channel, developmental and epileptic encephalopathy, deep cerebellar nuclei, gain of function, loss of function

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms21176333Test

الإتاحة: https://doi.org/10.3390/ijms21176333Test

المؤلفون: Sueanne Chear, Sharn Perry, Richard Wilson, Aidan Bindoff, Jana Talbot, Tyson L Ware, Alexandra Grubman, James C Vickers, Alice Pébay, Jonathan B Ruddle, Anna E King, Alex W Hewitt, Anthony L Cook

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ed720d7a23cae84d075c75cdda9ae688Test
https://doi.org/10.1101/2022.04.28.489465Test

المؤلفون: Alexander Rosenfeld, D. L. Jones, Shannon R. Huskins, Katherine B. Howell, Michael Harvey, Simone Mandelstam, Jeremy L. Freeman, Ingrid E. Scheffer, Bronwyn E. Grinton, Samuel F. Berkovic, Melanie Bahlo, Jacinta M McMahon, Richard J. Leventer, Danae Andreopoulos-Malikotsinas, Yu Chi Liu, Michael S. Hildebrand, A. Simon Harvey, Mark F. Bennett, Mark T Mackay, John A. Damiano, Tyson L Ware

المصدر: Epilepsia Open
Epilepsia Open, Vol 4, Iss 3, Pp 504-510 (2019)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Candidate gene, Genetic counseling, Population, lcsh:RC346-429, whole exome sequencing, 03 medical and health sciences, 0302 clinical medicine, Epidemiology, medicine, Short Research Article, developmental and epileptic encephalopathy, education, lcsh:Neurology. Diseases of the nervous system, Exome sequencing, 030304 developmental biology, Genetic testing, 0303 health sciences, education.field_of_study, medicine.diagnostic_test, business.industry, Incidence (epidemiology), Neurology, incidence, Etiology, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cea59936cda1ed70248aeadf53e34a3Test
https://doi.org/10.1002/epi4.12350Test

المؤلفون: Wenshu XiangWei, Grazia M.S. Mancini, Michael S. Hildebrand, G. Christoph Korenke, Federico Sicca, Candace T. Myers, Johanna M. van Hagen, Stephen M. Malone, Ingrid E. Scheffer, Richard Webster, Han Xie, Conny M. A. van Ravenswaaij-Arts, Renate M Kalnins, Heather C Mefford, Rosemary Burgess, Danielle Williams, Davide Mei, Samuel F. Berkovic, Tyson L Ware, Alice S. Brooks, Saskia M. Maas, Renzo Guerrini, Danique R.M. Vlaskamp, Martino Montomoli, Ingrid M.B.H. van de Laar, Benjamin J. Shaw, Yuwu Jiang, Mark F. Bennett

المساهمون: Amsterdam Reproduction & Development (AR&D), Clinical Cognitive Neuropsychiatry Research Program (CCNP), Human Genetics, Clinical Genetics

المصدر: Neurology, 92(2), E96-E107. Lippincott Williams and Wilkins
Neurology, 92(2), E96-E107. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 92(2), E96-E107. Lippincott Williams & Wilkins

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, INTELLECTUAL DISABILITY, GENES, Ataxia, Encephalopathy, Context (language use), DIAGNOSIS, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, ABSENCES, medicine, GTPASE-ACTIVATING PROTEIN, 030212 general & internal medicine, AUTISM, Atonic seizure, SPECTRUM, Seizure types, business.industry, EYELID MYOCLONIA, medicine.disease, Hypotonia, Drop attack, DE-NOVO MUTATIONS, Neurology (clinical), medicine.symptom, business, FORM, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb6c6584f837d6083b462a71ee79662bTest
https://doi.org/10.1212/wnl.0000000000006729Test

المؤلفون: Mark T Mackay, Michael Cheung, Belinda Stojanovski, Christopher Troedson, Adriane J Sinclair, Ian Andrews, Clair Pridmore, Christina Miteff, Paul Monagle, Michael C Fahey, Tanya L Medley, Russell C. Dale, Tyson L Ware, Alison Wray, Simone Mandelstam, Peter Walsh

المصدر: International Journal of Stroke. 14:94-106

مصطلحات موضوعية: Adult, Emergency Medical Services, medicine.medical_specialty, Consensus, Psychological intervention, Audit, 030204 cardiovascular system & hematology, Access to Information, 03 medical and health sciences, 0302 clinical medicine, Acute care, medicine, Emergency medical services, Humans, Pediatric stroke, Registries, Child, Intensive care medicine, Expert Testimony, Stroke, Evidence-Based Medicine, business.industry, Australia, Stroke Rehabilitation, Guideline, Evidence-based medicine, medicine.disease, Magnetic Resonance Imaging, Neurology, Practice Guidelines as Topic, Intracranial Hypertension, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7885979b07d54cef543316f5a0b3f6a4Test
https://doi.org/10.1177/1747493018799958Test

المؤلفون: Géza Berecki, Cara M. Skraban, Samuel F. Berkovic, Bronwyn E. Grinton, Katherine L. Helbig, Tyson L Ware, Eric D. Marsh, Steven Petrou

المصدر: International Journal of Molecular Sciences
Volume 21
Issue 17
International Journal of Molecular Sciences, Vol 21, Iss 6333, p 6333 (2020)

مصطلحات موضوعية: Male, medicine.medical_specialty, Cerebellum, gain of function, Developmental Disabilities, Mutation, Missense, CACNA1G mutation, Deep cerebellar nuclei, medicine.disease_cause, Article, Catalysis, lcsh:Chemistry, Inorganic Chemistry, Calcium Channels, T-Type, Internal medicine, medicine, Missense mutation, Humans, Physical and Theoretical Chemistry, developmental and epileptic encephalopathy, lcsh:QH301-705.5, Molecular Biology, Spectroscopy, Mutation, Cerebellar ataxia, Calcium channel, voltage-dependent T-type calcium channel, deep cerebellar nuclei, Organic Chemistry, General Medicine, Phenotype, Computer Science Applications, Endocrinology, medicine.anatomical_structure, lcsh:Biology (General), lcsh:QD1-999, loss of function, Cerebellar atrophy, Female, medicine.symptom, Spasms, Infantile

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1ef566c60aa6c8c54f8c7239292cc42Test
https://pubmed.ncbi.nlm.nih.gov/32878331Test

المؤلفون: Shannon N. Huskins, Ingrid E. Scheffer, Samuel F. Berkovic, Bronwyn E. Grinton, Tyson L Ware, Cheryl Shoubridge, Matilda R. Jackson, Alison Thomas

المصدر: American journal of medical genetics. Part A. 179(8)

مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, Ohtahara syndrome, Autism Spectrum Disorder, RNA Splicing, Gene Expression, 030105 genetics & heredity, Biology, 03 medical and health sciences, Exon, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, splice, Family, Lymphocytes, Child, Genetics (clinical), Loss function, Homeodomain Proteins, Base Sequence, Alternative splicing, Intron, High-Throughput Nucleotide Sequencing, Exons, medicine.disease, Introns, Pedigree, 030104 developmental biology, Child, Preschool, Mutation, Female, Spasms, Infantile, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b189804285d582bb2cc6edd08761542Test
https://pubmed.ncbi.nlm.nih.gov/31145546Test