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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2016 | 2 |
2019 | 1 |
2020 | 1 |
2022 | 1 |
2024 | 0 |
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4 results
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An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12.
Expert Rev Neurother. 2020.
PMID: 31829048
Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.
Jenkinson EM, et al.
Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29.
Nat Genet. 2016.
PMID: 27571260
Free PMC article.
Here we show that biallelic mutations in the gene SNORD118, encoding the box C/D snoRNA U8, cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts (LCC), presenting at any age from early childhood to late adulthood. …
Here we show that biallelic mutations in the gene SNORD118, encoding the box C/D snoRNA U8, cause the cerebral microangiopathy leukoencep …
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Leukoencephalopathy with calcifications and cysts: a case study with long-term follow-up.
Lomidze G, Chutkerashvili G, Tskhvaradze S, Gzirishvili N, Kasradze S.
Lomidze G, et al.
Epileptic Disord. 2022 Dec 1;24(6):1110-1115. doi: 10.1684/epd.2022.1478.
Epileptic Disord. 2022.
PMID: 35942509
Free article.
English.
No abstract available.
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Diffuse Brain Hypoperfusion in Advanced Leukoencephalopathy with Calcifications and Cysts.
Bartolini E, Bianchi A, Bartolomei I, Vella A, Sali L, Ciccarone A, Salvi F, Mascalchi M.
Bartolini E, et al.
J Stroke Cerebrovasc Dis. 2016 Aug;25(8):e111-3. doi: 10.1016/j.jstrokecerebrovasdis.2016.04.030. Epub 2016 May 19.
J Stroke Cerebrovasc Dis. 2016.
PMID: 27212271
Leukoencephalopathy with calcifications and cysts (LCC) is an uncommon condition of unknown etiology occurring in children and adults. ...
Leukoencephalopathy with calcifications and cysts (LCC) is an uncommon condition of unknown etiology occu …
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