Zobrazeno 1 - 10
of 94
pro vyhledávání: '"Labrune syndrome"'
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:
Elena Scaffei, Bianca Buchignani, Rosa Pasquariello, Paola Cristofani, Raffaello Canapicchi, Laura Biagi, Flavio Giordano, Emanuela De Marco, Yanick J. Crow, Roberta Battini
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Leukoencephalopathy with Calcifications and Cysts (LCC) is a rare genetic microangiopathy exclusively affecting the central nervous system caused by biallelic mutations in SNORD118. Brain magnetic resonance imaging (MRI) is often diagnostic due to th
Externí odkaz:
https://doaj.org/article/9f2169f42ea446c2a44a8bd1b2a626c0
Akademický článek
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Autor:
Michelle Paff, Nardin Samuel, Noor Alsafwani, Darcia Paul, Phedias Diamandis, Seth A. Climans, Walter Kucharczyk, Mandy Yi Rong Ding, Andrew F. Gao, Andres M. Lozano
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-6 (2022)
Abstract Background Leukoencephalopathy with brain calcifications and cysts (LCC; also known as Labrune syndrome) is a rare genetic microangiopathy caused by biallelic mutations in SNORD118. The mechanisms by which loss-of-function mutations in SNORD
Externí odkaz:
https://doaj.org/article/5ca03fa18bd84c048808dd4b3d6b62b0
Autor:
Meiping Wang, Jinmei Lu, Xiaoxi Wang, Xiaoqun Ba, Dengchang Wu, Jianfang Zhang, Jiajia Zhou, Kang Wang
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Labrune syndrome (LS) is caused by SNORD118 gene mutations with a particular neuroimaging of white matter disease, intracranial calcification, and cysts. There was no effective treatment until now. An 18-year-old man with infancy-onset LS was first t
Externí odkaz:
https://doaj.org/article/e2458bd1efab41249b75a4f6ef2038c0
Labrune Syndrome: A Very Rare Association of Leukoencephalopathy, Cerebral Calcifications, and Cysts
Publikováno v:
Indian Journal of Radiology and Imaging, Vol 31, Iss 03, Pp 772-775 (2021)
Leukoencephalopathy, cerebral calcifications, and cysts (LCC) form a very rare association which is named as “Labrune syndrome” after Labrune who reported the first case in 1996. To the best of our knowledge only eight to 10 cases have been repor
Externí odkaz:
https://doaj.org/article/8532e86d0a0041849157e4e4778ea696
Akademický článek
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Labrune Syndrome: A Very Rare Association of Leukoencephalopathy, Cerebral Calcifications, and Cysts
Publikováno v:
The Indian Journal of Radiology & Imaging
Indian Journal of Radiology and Imaging, Vol 31, Iss 03, Pp 772-775 (2021)
Indian Journal of Radiology and Imaging, Vol 31, Iss 03, Pp 772-775 (2021)
Leukoencephalopathy, cerebral calcifications, and cysts (LCC) form a very rare association which is named as “Labrune syndrome” after Labrune who reported the first case in 1996. To the best of our knowledge only eight to 10 cases have been repor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88c5f056c433a3406c73646b9ce0671e
http://europepmc.org/articles/PMC8590554
http://europepmc.org/articles/PMC8590554
Autor:
Magdalena Machnikowska-Sokołowska, Jacek Pilch, Justyna Paprocka, Małgorzata Rydzanicz, Agnieszka Pollak, Joanna Kosińska, Piotr Gasperowicz, Katarzyna Gruszczyńska, Ewa Emich-Widera, Rafał Płoski
Publikováno v:
Brain Sciences, Vol 10, Iss 11, p 869 (2020)
Leukoencephalopathy with calcifications and cysts (LCC) is a triad of neuroradiological symptoms characteristic of Labrune syndrome, which was first described in 1996. For 20 years, the diagnosis was only based on clinical, neuroradiological and hist
Externí odkaz:
https://doaj.org/article/2a91f57239c04607be92f5f49084ad90
Publikováno v:
Child's Nervous System. 38:643-648
Ribosomopathies are rare, recently defined entities. One of these, Labrune syndrome, is recognisable radiologically by its distinctive triad of leukoencephalopathy, intracranial calcifications and cysts (LCC). These cysts may have neurosurgical impli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cef59a58b577640ff87ec8f99f2cefdd
https://doi.org/10.1007/s00381-021-05208-6
https://doi.org/10.1007/s00381-021-05208-6