المؤلفون: Jennifer Harmon, Brianna Pierce, Jullie Rhee, Kyle Kroll, Nhu Chau, Matthew Whitehead, Laura Tochen, Jamie Fraser

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100216- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423002169; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/53297ccb3a414005856e513bfc1d082b

المؤلفون: Marisa I. Mendes, Lydia M. C. Green, Enrico Bertini, Davide Tonduti, Chiara Aiello, Desiree Smith, Ettore Salsano, Shanice Beerepoot, Jozef Hertecant, Sarah vonSpiczak, John H. Livingston, Lisa Emrick, Jamie Fraser, Laura Russell, Genevieve Bernard, Stefania Magri, Daniela Di Bella, Franco Taroni, Mary K. Koenig, Isabella Moroni, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Jullie Rhee, Bryce A. Mendelsohn, Ingo Helbig, Katherine Helbig, Hiltrud Muhle, Omar Ismayl, Adeline L. Vanderver, Gajja S. Salomons, Marjo S. van derKnaap, Nicole I. Wolf

المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 83-93 (2020)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/0451d47dda844ada9b1700050648a958

المؤلفون: Allison Shaw, Jullie Rhee, Hallie Andrew, Nadia Merchant, Jamie L. Fraser

المصدر: Molecular Genetics and Metabolism. 138:107485

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::41b673b83929b3d8a9fdd3382769a86b
https://doi.org/10.1016/j.ymgme.2023.107485

المؤلفون: Nicole Ulrick, Abigail Collins, Sabrina W. Yum, Thais Armangue, Justine Shults, Katherine L. Boyle, Katherine McDonald, Francesco Gavazzi, Asako Takanohashi, Holly Dubbs, Amy Pizzino, Constance Besnier, Omar Sherbini, Carly Scher, Kyle Peer, Stephanie Keller, Pierre Lebon, Sarah Woidill, Nicole Jaffe, Jullie Rhee, Julia Kramer-Golinkoff, Guy Helman, David B. Frank, Adeline Vanderver, Jamie Koh, Jean-François Meritet, Laura Adang

المصدر: N Engl J Med

مصطلحات موضوعية: Extramural, business.industry, Central nervous system, General Medicine, 030204 cardiovascular system & hematology, medicine.disease, Article, 03 medical and health sciences, 0302 clinical medicine, Immune system, medicine.anatomical_structure, medicine, Cancer research, Aicardi–Goutières syndrome, 030212 general & internal medicine, business, Janus kinase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cd90a8dd50648581e3f80225ed33894
https://doi.org/10.1056/nejmc2001362

المؤلفون: Jenna L. Wallace, Amanda Tourjee, Elisa Seeger, Camila Elizondo, Jennifer A. Brault, Camille Corre, Kaprice C. Shullanberger, Jennifer A. Accardo, Jullie Rhee, Eric J. Mallack, Florian Eichler, Jennifer Rubin, April C. Jackson-Garcia, Stephanie Keller, Kevin C. Ess, Catherine Becker, Amy Waldman, Angela White, Melissa Trovato, Klaus Werner, Michael R. Wallace, Jennifer Garafola

المصدر: Journal of Child Neurology

مصطلحات موضوعية: cognition, leukodystrophy, medicine.medical_specialty, Best practice, Patient Advocacy, Disease, Severity of Illness Index, Patient advocacy, rehabilitation, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Disease severity, Multidisciplinary approach, 030225 pediatrics, medicine, Humans, genetics, sleep, Child, seizures, Topical Review Articles, business.industry, spasticity, Cognition, Guideline, medicine.disease, Hereditary Central Nervous System Demyelinating Diseases, pediatric, disability, Family medicine, Practice Guidelines as Topic, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e88677a9f9327420ecde18e55ab7ddb8
https://doi.org/10.1177/0883073820946154

المؤلفون: Ali, Tavasoli, Thais, Armangue, Cheng-Ying, Ho, Matthew, Whitehead, Miriam, Bornhorst, Jullie, Rhee, Eugene I, Hwang, Elizabeth M, Wells, Roger, Packer, Marjo S, van der Knaap, Marianna, Bugiani, Adeline, Vanderver

المصدر: Journal of child neurology. 32(2)

مصطلحات موضوعية: Diagnosis, Differential, Male, Brain Neoplasms, Glial Fibrillary Acidic Protein, Brain, Humans, Infant, Alexander Disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::9df7f6b912df0748bc5324d699ff33eb
https://pubmed.ncbi.nlm.nih.gov/28112050

المؤلفون: Ali Tavasoli, Elizabeth Wells, Adeline Vanderver, Marianna Bugiani, Eugene Hwang, Cheng-Ying Ho, Jullie Rhee, Thaís Armangue, Matthew T. Whitehead, Roger J. Packer, Miriam Bornhorst, Marjo S van der Knaap

المساهمون: Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), Pathology, Paediatric Neurology

المصدر: Journal of Child Neurology, 32(2), 184-187. SAGE Publications Inc.
Journal of child neurology, 32(2), 184-187. SAGE Publications Inc.
Tavasoli, A, Armangue, T, Ho, C Y, Whitehead, M, Bornhorst, M, Rhee, J, Hwang, E I, Wells, E M, Packer, R, Van Der Knaap, M S, Bugiani, M & Vanderver, A 2017, ' Alexander Disease : A Leukodystrophy That May Mimic Brain Tumor ', Journal of Child Neurology, vol. 32, no. 2, pp. 184-187 . https://doi.org/10.1177/0883073816673263

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Glial fibrillary acidic protein, biology, business.industry, Thalamus, Leukodystrophy, Brain tumor, Astrocytoma, medicine.disease, Alexander disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, Basal ganglia, medicine, biology.protein, Missense mutation, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83a97de9e9a7947d8dcb72ff47098e08
https://research.vumc.nl/en/publications/2e6e14c9-8240-4e6f-a83c-23056f5f9d28

المؤلفون: Chiara Aiello, Isabella Moroni, Mary Kay Koenig, Bryce A. Mendelsohn, Geneviève Bernard, Nicole I. Wolf, Enrico Bertini, Sarah von Spiczak, Gajja S. Salomons, Davide Tonduti, Adeline L. Vanderver, Desirée E.C. Smith, Ingo Helbig, Nicola Brunetti-Pierri, Shanice Beerepoot, Ettore Salsano, Jozef Hertecant, Marjo S van der Knaap, Jullie Rhee, Hiltrud Muhle, John H. Livingston, Gerarda Cappuccio, Laura Russell, Jamie L. Fraser, Lisa Emrick, Katherine L. Helbig, Franco Taroni, Marisa I. Mendes, Omar Ismayl, Lydia Green, Daniela Di Bella, Stefania Magri

المساهمون: Mendes, M. I., Green, L. M. C., Bertini, E., Tonduti, D., Aiello, C., Smith, D., Salsano, E., Beerepoot, S., Hertecant, J., von Spiczak, S., Livingston, J. H., Emrick, L., Fraser, J., Russell, L., Bernard, G., Magri, S., Di Bella, D., Taroni, F., Koenig, M. K., Moroni, I., Cappuccio, G., Brunetti-Pierri, N., Rhee, J., Mendelsohn, B. A., Helbig, I., Helbig, K., Muhle, H., Ismayl, O., Vanderver, A. L., Salomons, G. S., van der Knaap, M. S., Wolf, N. I., Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pediatric surgery, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), Functional Genomics

المصدر: Mendes, M I, Green, L M C, Bertini, E, Tonduti, D, Aiello, C, Smith, D, Salsano, E, Beerepoot, S, Hertecant, J, von Spiczak, S, Livingston, J H, Emrick, L, Fraser, J, Russell, L, Bernard, G, Magri, S, Di Bella, D, Taroni, F, Koenig, M K, Moroni, I, Cappuccio, G, Brunetti-Pierri, N, Rhee, J, Mendelsohn, B A, Helbig, I, Helbig, K, Muhle, H, Ismayl, O, Vanderver, A L, Salomons, G S, van der Knaap, M S & Wolf, N I 2020, ' RARS1-related hypomyelinating leukodystrophy : Expanding the spectrum ', Annals of Clinical and Translational Neurology, vol. 7, no. 1, pp. 83-93 . https://doi.org/10.1002/acn3.50960
Annals of clinical and translational neurology, 7(1), 83-93. John Wiley and Sons Ltd
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, 7(1), 83-93. John Wiley and Sons Ltd
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 83-93 (2020)

مصطلحات موضوعية: Adult, 0301 basic medicine, Pathology, medicine.medical_specialty, Adolescent, Neurosciences. Biological psychiatry. Neuropsychiatry, Nystagmus, Severity of Illness Index, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Atrophy, SDG 3 - Good Health and Well-being, Demyelinating disease, medicine, Humans, Missense mutation, Spasticity, Age of Onset, RC346-429, Child, Genetic Association Studies, Research Articles, business.industry, General Neuroscience, Leukodystrophy, Genetic disorder, Infant, Arginine-tRNA Ligase, medicine.disease, Magnetic Resonance Imaging, Hereditary Central Nervous System Demyelinating Diseases, Cross-Sectional Studies, 030104 developmental biology, Child, Preschool, Neurology. Diseases of the nervous system, Neurology (clinical), Age of onset, medicine.symptom, business, 030217 neurology & neurosurgery, RC321-571, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91fe3276e4e7cd726790660910263375