Zobrazeno 1 - 10
of 222
pro vyhledávání: '"Brain calcifications"'
Autor:
Birgitta MG Snijders, Gini Mathijssen, Mike JL Peters, Marielle H Emmelot-Vonk, Pim A de Jong, Susan Bakker, Heleen A Crommelin, Ynte M Ruigrok, Eva H Brilstra, Vera PM Schepers, Wilko Spiering, Evelien van Valen, Huiberdina L Koek
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)
Abstract Background Fahr’s disease and syndrome are rare disorders leading to calcification of the small arteries in the basal ganglia of the brain, resulting in a wide range of symptoms comprising cognitive decline, movement disorders and neuropsy
Externí odkaz:
https://doaj.org/article/0cde0a52159e438b829397bf0e374401
Autor:
Emily J. McFadden, Susan J. Baserga
Publikováno v:
RNA Biology, Vol 19, Iss 1, Pp 412-418 (2022)
Small nucleolar RNAs (snoRNAs) are non-coding RNAs vital for ribosomal RNA (rRNA) maturation. The U8 snoRNA, encoded by the SNORD118 gene in humans, is an atypical C/D box snoRNA as it promotes rRNA cleavage rather than 2′–O–methylation and is
Externí odkaz:
https://doaj.org/article/c42a0d54d43f40e1a1a310212f911c72
Autor:
Paolo La Montanara, Annamaria Albergo, Roberto Castellana, Concetta Fiorentini, Caterina Romano, Annalisa Rossiello, Moritz Steinruecke, Giuseppe Vella
Publikováno v:
Bulletin of the National Research Centre, Vol 46, Iss 1, Pp 1-7 (2022)
Abstract Background We present the clinical, MRI and CT findings in a case of a new mitochondrial genome mutation (tRNA arginine gene), characterized by brain calcifications which are indicative of Kearns–Sayre syndrome (KSS). Some radiological fea
Externí odkaz:
https://doaj.org/article/d13864414f3f4fdeb532181256e87d5a
Akademický článek
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Publikováno v:
Epilepsia Open, Vol 4, Iss 2, Pp 351-354 (2019)
Abstract Neurocysticercosis is a frequent cause of seizures in endemic countries. It is caused by the larvae of the tapeworm Taenia solium. The larvae once hosted in the cerebral parenchyma evolve into viable cysts, called the vesicular stage (with l
Externí odkaz:
https://doaj.org/article/8b720765f0d046108e308a832ef0ef06
Autor:
Ali Akhaddar, Hassan Baallal
Publikováno v:
PAMJ Clinical Medicine, Vol 3, Iss 146 (2020)
A 56-year-old diabetic man complains for isolated chronic headaches for many years. He denied any seizure, involuntary limb movements or blurring of vision. Physical examination was unremarkable for any focal neurological deficits. Cranial Computed t
Externí odkaz:
https://doaj.org/article/a2e36804e7bb4b2f870b8d9c5e885f45
Autor:
Maya P. Danovska, Diana L. Marinova, Igor Mladenovski, Emilia M. Ovcharov, Vesela Ivancheva, Nachko Totsev, Lyubomir Tzankov
Publikováno v:
Journal of IMAB, Vol 24, Iss 2, Pp 1991-1994 (2018)
Background: Idiopathic hypoparathyroidism is a rare endocrine disorder caused by the deficiency of parathyroid hormone. It typically has a progressive course and is characterized by accumulations of calcium deposits in the basal ganglia bilaterally.
Externí odkaz:
https://doaj.org/article/f27bb2df5b6e44bda6883f012a71eb61
Akademický článek
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Autor:
Ashish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, Jessica Zon, David Chitayat, Jonathan Volpatti, Ruth Newbury-Ecob, Sian Ellard, Hana Lango Allen, Emily P Yu, Ramil Noche, Suzi Walker, Stephen W Scherer, Sonal Mahida, Christopher M Elitt, Gaël Nicolas, Alice Goldenberg, Pascale Saugier-Veber, Francois Lecoquierre, Ivana Dabaj, Hannah Meddaugh, Michael Marble, Kim M Keppler-Noreuil, Lucy Drayson, Kristin W Barañano, Anna Chassevent, Katie Agre, Pascaline Létard, Frederic Bilan, Gwenaël Le Guyader, Annie Laquerrière, Keri Ramsey, Lindsay Henderson, Lauren Brady, Mark Tarnopolsky, Matthew Bainbridge, Jennifer Friedman, Yline Capri, Larissa Athayde, Fernando Kok, Juliana Gurgel-Giannetti, Luiza L P Ramos, Susan Blaser, James J Dowling, Rosanna Weksberg
The blood–brain barrier ensures CNS homeostasis and protection from injury. Claudin-5 (CLDN5), an important component of tight junctions, is critical for the integrity of the blood–brain barrier. We have identified de novo heterozygous missense v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11f5b7a48a2c525d610b1e49ea2bf631
https://www.repository.cam.ac.uk/handle/1810/344185
https://www.repository.cam.ac.uk/handle/1810/344185
Akademický článek
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