Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Samantha E. Marin"'
Autor:
Kym M. Boycott, Lyndon Gallacher, Aziz Mhanni, Simon Sadedin, Xiaomin Dong, Kristin D. Kernohan, Arran McBride, Ismaël Alidou-D'Anjou, John Christodoulou, Zornitza Stark, Aren E Marshall, François Dragon, Samantha E Marin, Patrick Frosk, Marc R. Del Bigio, Sophie Sleiman
Publikováno v:
Human Molecular Genetics. 31:614-624
SHQ1 is essential for biogenesis of H/ACA ribonucleoproteins, a class of molecules important for processing ribosomal RNAs, modifying spliceosomal small nuclear RNAs and stabilizing telomerase. Components of the H/ACA ribonucleoprotein complex have b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6876a2f473d6b0271228df3c24e60761
https://doi.org/10.1093/hmg/ddab247
https://doi.org/10.1093/hmg/ddab247
Publikováno v:
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. 39(3)
Congenital cranial dysinnervation disorders result from a maldevelopment of brainstem nuclei and/or cranial nerves. In some cases, specific genetic abnormalities have been identified. We expand the clinical phenotype of these disorders with the repor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::478e833d8594fbf3417f79c495ed7127
https://pubmed.ncbi.nlm.nih.gov/31008839
https://pubmed.ncbi.nlm.nih.gov/31008839
Autor:
Russell P. Saneto, Samantha E. Marin
Publikováno v:
Neurologic Clinics. 34:247-294
Mitochondrial diseases are a clinically heterogeneous group of disorders that ultimately result from dysfunction of the mitochondrial respiratory chain. There is some evidence to suggest that mitochondrial dysfunction plays a role in neuropsychiatric
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38fc0fe345833496b569a87287952a6d
https://doi.org/10.1016/j.ncl.2015.08.011
https://doi.org/10.1016/j.ncl.2015.08.011
Autor:
David J.A. Callen, Samantha E. Marin
Publikováno v:
Neuroimaging Clinics of North America
Acute disseminated encephalomyelitis (ADEM) is an immunologically mediated inflammatory disease of the central nervous system that typically occurs after a viral infection or recent vaccination, and is most commonly seen in the pediatric population.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72f14de0d675bca4ac892d94bacc8515
https://doi.org/10.1016/j.nic.2012.12.005
https://doi.org/10.1016/j.nic.2012.12.005
Autor:
Brian H. Robinson, Ronit Mesterman, Mark A. Tarnopolsky, Jan A.M. Smeitink, Samantha E. Marin, Richard J. Rodenburg
Publikováno v:
Gene, 516, 162-7
Gene, 516, 1, pp. 162-7
Gene, 516, 1, pp. 162-7
Item does not contain fulltext Leigh syndrome (LS) is a progressive neurodegenerative disease caused by either mitochondrial or nuclear DNA mutations resulting in dysfunctional mitochondrial energy metabolism. Mutations in genes encoding for subunits
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ba9ef7afa44a1b6883d94315e3215e9
https://doi.org/10.1016/j.gene.2012.12.024
https://doi.org/10.1016/j.gene.2012.12.024
Publikováno v:
Journal of Child Neurology. 28:1577-1586
Cognitive dysfunction is common in pediatric-onset multiple sclerosis, but long-term data on cognitive maturation in these patients are sparse. We report the clinical features and cognitive trajectories in 4 pediatric-onset multiple sclerosis patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72d836cd2822db560e0e4fb52d8c450b
https://doi.org/10.1177/0883073812465010
https://doi.org/10.1177/0883073812465010