المؤلفون: Calvin Soh, Sophie Calvert, Ram L. Kumar, Isabelle Desguerre, Kevin Talbot, Evangeline Wassmer, Axel Panzer, Andrea Berger, Anna de Burca, Anu Jacob, Andrea Whitney, Andrew P. Badrock, Frances Gibbon, Shelley MacDonald, Rhys H. Thomas, Reza Maroofian, Heather Burnett, Elizabeth Jones, Thomas Blauwblomme, Francois V. Bolduc, Jamal Ghoumid, Mickaël Ferrand, Yanick J. Crow, Emma M. Jenkinson, Camilo Toro, Diana Chiang, Roseline Caumes, Gillian I. Rice, Gemma Fisher, Gopinath M. Subramanian, Edoardo Monfrini, Renaud Touraine, Hilde T. Hilmarsen, Sarju G. Mehta, Imelda Hughes, Sumit Parikh, Edward Blair, Mary O'Driscoll, Sarah Dyack, Himanshu Goel, Kristin W. Barañano, Prab Prabhakar, Luis Seabra, Roberta Battini, John H. Livingston, Russell P. Saneto, Richard J. Leventer, Katrin Õunap, Heather Marshall, Andy Cheuk Him Ng, Duccio Maria Cordelli, Natasha Demic, Daniela Neumann, Natalie Boddaert, Michael J. Noetzel, S. Richard Dunham, Ehsan Ghayoor Karimiani, Johannes A. Buckard, Frances Elmslie, Raymond T. O'Keefe, Chloe A Stutterd, Richard Sandford, Imke Metz, Francis Ramond, Liesbeth De Waele, Alessio Di Fonzo, Emma Wakeling, David B. Clifford

المساهمون: Crow Y.J., Marshall H., Rice G.I., Seabra L., Jenkinson E.M., Baranano K., Battini R., Berger A., Blair E., Blauwblomme T., Bolduc F., Boddaert N., Buckard J., Burnett H., Calvert S., Caumes R., Ng A.C.-H., Chiang D., Clifford D.B., Cordelli D.M., de Burca A., Demic N., Desguerre I., De Waele L., Di Fonzo A., Dunham S.R., Dyack S., Elmslie F., Ferrand M., Fisher G., Karimiani E.G., Ghoumid J., Gibbon F., Goel H., Hilmarsen H.T., Hughes I., Jacob A., Jones E.A., Kumar R., Leventer R.J., MacDonald S., Maroofian R., Mehta S.G., Metz I., Monfrini E., Neumann D., Noetzel M., O'Driscoll M., Ounap K., Panzer A., Parikh S., Prabhakar P., Ramond F., Sandford R., Saneto R., Soh C., Stutterd C.A., Subramanian G.M., Talbot K., Thomas R.H., Toro C., Touraine R., Wakeling E., Wassmer E., Whitney A., Livingston J.H., O'Keefe R.T., Badrock A.P.

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, 030105 genetics & heredity, Gene mutation, ribosomopathy, Compound heterozygosity, Genetic analysis, Loss of heterozygosity, Leukoencephalopathy, Consanguinity, Leukoencephalopathies, Pathology, Molecular, Child, Zebrafish, Genetics (clinical), Genetics, Molecular pathology, C/D box snoRNA U8, coats plus, Labrune syndrome, leukoencephalopathy with calcifications and cysts, SNORD118, Calcinosis, Middle Aged, 3. Good health, Child, Preschool, Female, Adult, Heterozygote, Adolescent, coats plu, Biology, Young Adult, 03 medical and health sciences, medicine, Animals, Humans, RNA, Small Nucleolar, Genetic Association Studies, Aged, leukoencephalopathy with calcifications and cyst, Infant, Newborn, Infant, medicine.disease, Disease Models, Animal, 030104 developmental biology

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f2d9de564df3de6329454df9c446972
http://hdl.handle.net/11585/786787

المؤلفون: Andrea Berger, Katrin Õunap, Paul R. Kasher, Yanick J. Crow, Emma M. Jenkinson, Duccio Maria Cordelli, Emma Wakeling, Helen Stewart, Andrea Whitney, John H. Livingston, Calvin Soh, Patrick Ferreira, Christine E. G. van Mol, Staffan Lundberg, Stavros Stivaros, Josephine Mayer, Rosalind J. Jefferson, Prab Prabhakar, Jon Stone, Georg Kutschke, Gillian I. Rice, Marjo S. van der Knaap, Hilda van Esch

المساهمون: Other departments, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Pediatric surgery, NCA - Brain mechanisms in health and disease, Livingston, John H., Mayer, Josephine, Jenkinson, Emma, Kasher, Paul, Stivaros, Stavro, Berger, Andrea, Cordelli, Duccio M., Ferreira, Patrick, Jefferson, Rosalind, Kutschke, Georg, Lundberg, Staffan, Ounap, Katrin, Prabhakar, Prab, Soh, Calvin, Stewart, Helen, Stone, Jon, Van Der Knaap, Marjo S., Van Esch, Hilda, Van Mol, Christine, Wakeling, Emma, Whitney, Andrea, Rice, Gillian I., Crow, Yanick J.

المصدر: Livingston, J H, Mayer, J, Jenkinson, E, Kasher, P, Stivaros, S, Berger, A, Cordelli, D M, Ferreira, P, Jefferson, R, Kutschke, G, Lundberg, S, Ounap, K, Prabhakar, P, Soh, C, Stewart, H, Stone, J, van der Knaap, M S, Van Esch, H, van Mol, C, Wakeling, E, Whitney, A, Rice, G I & Crow, Y J 2014, ' Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus ', Neuropediatrics, vol. 45, no. 3, pp. 175-182 . https://doi.org/10.1055/s-0033-1364180
Neuropediatrics, 45(3), 175-182. Hippokrates Verlag GmbH

مصطلحات موضوعية: Adult, leukoencephalopathy, Cerebellum, Pathology, medicine.medical_specialty, Tomography Scanners, X-Ray Computed, Adolescent, coats plu, Neurological disorder, intracranial calcification, Leukoencephalopathie, Leukoencephalopathy, White matter, Young Adult, Leukoencephalopathies, Basal ganglia, Humans, Medicine, Child, Nervous System Disease, Cerebral atrophy, Brain Diseases, Cysts, business.industry, Brain Disease, Infant, Newborn, Calcinosis, Infant, General Medicine, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Cyst, medicine.anatomical_structure, Dentate nucleus, Child, Preschool, Pediatrics, Perinatology and Child Health, Calcinosi, Neurology (clinical), Nervous System Diseases, business, Human, Calcification

وصف الملف: STAMPA; Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::584ac8c5189b53dc358d84437f351361
https://research.vumc.nl/en/publications/fa53c7ca-9fcf-43c2-89b3-eeaa19ef4432