المؤلفون: Maggie M. K. Wong, Stephanie D. Hoekstra, Jane Vowles, Lauren M. Watson, Geraint Fuller, Andrea H. Németh, Sally A. Cowley, Olaf Ansorge, Kevin Talbot, Esther B. E. Becker

المصدر: Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-14 (2018)

مصطلحات موضوعية: Ataxia, Stem cells, Purkinje cells, Neurodegeneration, Cerebellum, Protein kinase C gamma, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-018-0600-7; https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/d36835a4edd448ddb8d5f839cc6adf53

المؤلفون: Lauren M. Watson, Maggie M. K. Wong, Esther B. E. Becker

المصدر: Open Biology, Vol 5, Iss 7 (2015)

مصطلحات موضوعية: induced pluripotent stem cells, cerebellum, ataxia, neurodegenerative disease, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2046-2441

URL الوصول: https://doaj.org/article/041cdbdddd4d4bd588a9859b96f77549

المؤلفون: Maggie M K Wong, Chloé Quélin, Tjitske Kleefstra, Arie van Haeringen, Simon E. Fisher, Mathilde Nizon, Massimiliano Rossi, Sandra Whalen, Angela T Morgan, Erin F Otness, Gaetan Lesca, Raphael Bernier, Siddharth Srivastava, Nadieh A Jansen, Ruth O Braden, Bregje W.M. van Bon

المصدر: European Journal of Human Genetics, 29(8), 1198-1205. SPRINGERNATURE
Eur J Hum Genet
European Journal of Human Genetics
European Journal of Human Genetics, 29, 8, pp. 1198-1205
European Journal of Human Genetics, 29, 1198-1205

مصطلحات موضوعية: Neuroinformatics, Adult, Male, Adolescent, Developmental Disabilities, Haploinsufficiency, Bioinformatics, Article, 03 medical and health sciences, Loss of Function Mutation, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Expressivity (genetics), Clinical phenotype, Child, Genetics (clinical), Aged, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, 030305 genetics & heredity, Infant, Nuclear Proteins, Syndrome, Gene deletion, Middle Aged, medicine.disease, Penetrance, Hypotonia, Patient management, Phenotype, Attention Deficit Disorder with Hyperactivity, Child, Preschool, Female, medicine.symptom, business, Carrier Proteins

وصف الملف: application/vnd.openxmlformats-officedocument.spreadsheetml.sheet; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc5a1d8fbb51e53c92f85cf98816c6b4
https://hdl.handle.net/2066/237822

المؤلفون: Varoona Bizaoui, Siddharth Srivastava, Simon E. Fisher, Angela T Morgan, Bregje W.M. van Bon, Ruth O Braden, Adam P. Vogel, David J. Amor, Estelle Colin, Frédérique Liégeois, Maggie M K Wong, Kara Ranguin

المصدر: European Journal of Human Genetics, 29, 8, pp. 1216-1225
Eur J Hum Genet
European Journal of Human Genetics
European Journal of Human Genetics, 29, 1216-1225

مصطلحات موضوعية: Neuroinformatics, medicine.medical_specialty, media_common.quotation_subject, Haploinsufficiency, Audiology, Sign language, Literacy, Article, Speech Disorders, Dysarthria, Genetics, medicine, Humans, Speech, Genetics (clinical), media_common, Language, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Communication, Nuclear Proteins, Syndrome, medicine.disease, Comprehension, Childhood apraxia of speech, medicine.symptom, Psychology, Carrier Proteins, Spoken language, Gesture

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::160f7f0e2136b02162ce5997fa89be75
https://repository.ubn.ru.nl/handle/2066/237908

المؤلفون: Geraint Fuller, Maggie M. K. Wong, Jane Vowles, Lauren M Watson, Andrea H. Németh, Kevin Talbot, Esther B. E. Becker, Stephanie D. Hoekstra, Sally A. Cowley, Olaf Ansorge

المصدر: Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-14 (2018)
Acta Neuropathologica Communications

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Cerebellum, Ataxia, Induced Pluripotent Stem Cells, Stem cells, Protein kinase C gamma, Biology, Models, Biological, Protein Aggregation, Pathological, lcsh:RC346-429, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Catalytic Domain, medicine, Humans, Spinocerebellar Ataxias, Neurodegeneration, Kinase activity, Induced pluripotent stem cell, lcsh:Neurology. Diseases of the nervous system, Protein Kinase C, C1 domain, Aged, Middle Aged, medicine.disease, PRKCG Gene, 3. Good health, Cell biology, Protein Transport, 030104 developmental biology, medicine.anatomical_structure, Purkinje cells, Mutation, Nerve Degeneration, Spinocerebellar ataxia, Female, Neurology (clinical), Autopsy, medicine.symptom, Protein Kinases, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12f19b733411170256b52393434f8e9d
https://pubmed.ncbi.nlm.nih.gov/30249303

المؤلفون: Esther B. E. Becker, Maggie M. K. Wong, Lauren M Watson

المصدر: Open Biology
Open Biology, Vol 5, Iss 7 (2015)

مصطلحات موضوعية: Cell type, Cerebellum, Ataxia, Cerebellar Ataxia, cerebellum, induced pluripotent stem cells, Cellular differentiation, Immunology, Cell Culture Techniques, Cell- and Tissue-Based Therapy, Review, Disease, Biology, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, neurodegenerative disease, medicine, Animals, Induced pluripotent stem cell, Review Articles, lcsh:QH301-705.5, 030304 developmental biology, 0303 health sciences, Cerebellar ataxia, General Neuroscience, Neurodegeneration, ataxia, Cell Differentiation, Neurodegenerative Diseases, medicine.disease, 3. Good health, Disease Models, Animal, medicine.anatomical_structure, lcsh:Biology (General), medicine.symptom, Genetic Engineering, Neuroscience, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ddd3e794c535d6ed11903f50cdcebd1
https://hdl.handle.net/21.11116/0000-0002-560D-021.11116/0000-0002-560F-E

المؤلفون: Mahesh Choolani, Maggie M. K. Wong, Tuan Zea Tan, Mohammad Asad, Jeffrey Low, Seiichi Mori, David M. Virshup, Jean Paul Thiery, R Y-J Huang

المصدر: Cell Death & Disease

مصطلحات موضوعية: Cancer Research, Frizzled, RHOA, Beta-catenin, Immunology, Protocadherin, Cellular and Molecular Neuroscience, Cell Movement, Cell Line, Tumor, Animals, Humans, Wnt Signaling Pathway, beta Catenin, Cell Proliferation, Ovarian Neoplasms, biology, Cell Cycle, Wnt signaling pathway, Cell Polarity, LRP6, LRP5, Cell Biology, Frizzled Receptors, Cell biology, biology.protein, Drosophila, Female, Original Article, PTK7

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7d30a58fac202d985fd9c27351b335e
https://doi.org/10.1038/cddis.2014.302