Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2015 | 1 |
2018 | 1 |
2019 | 1 |
2021 | 1 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Quoted phrase not found in phrase index: "Hypomyelinating leukodystrophy 9"
Page 1
Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.
Brain. 2015 Sep;138(Pt 9):2521-36. doi: 10.1093/brain/awv204. Epub 2015 Jul 15.
Brain. 2015.
PMID: 26179919
Free PMC article.
Pelizaeus-Merzbacher disease is an X-linked hypomyelinating leukodystrophy caused by mutations or rearrangements in PLP1. ...Magnetic resonance imaging and spectroscopy were consistent with a demyelinating leukodystrophy. Using genetic linkage and exome seque …
Pelizaeus-Merzbacher disease is an X-linked hypomyelinating leukodystrophy caused by mutations or rearrangements in PLP1. ...M …
Broadening the spectrum phenotype of TBCE-related neuron neurodegeneration.
Battini R, Milone R, Aiello C, Astrea G, Sferra A, Pasquariello R, Cioni G, Bertini E.
Battini R, et al.
Brain Dev. 2021 Oct;43(9):939-944. doi: 10.1016/j.braindev.2021.05.015. Epub 2021 Jun 13.
Brain Dev. 2021.
PMID: 34134906
Her brain MRI revealed white matter involvement. RESULTS: Analyzing all known hypomyelination leukodystrophies related genes, two mutations in TBCE (NM_001079515) were detected: the missense variant c.464 T > A; p. ...CONCLUSIONS: Next Generation Sequencing is be …
Her brain MRI revealed white matter involvement. RESULTS: Analyzing all known hypomyelination leukodystrophies related genes, …
Item in Clipboard
Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.
Kraoua I, Karkar A, Drissi C, Benrhouma H, Klaa H, Samaan S, Renaldo F, Elmaleh M, Ben Hamouda M, Abdelhak S, Boespflug-Tanguy O, Ben Youssef-Turki I, Dorboz I.
Kraoua I, et al.
Mol Genet Genomic Med. 2019 Sep;7(9):e914. doi: 10.1002/mgg3.914. Epub 2019 Jul 31.
Mol Genet Genomic Med. 2019.
PMID: 31368241
Free PMC article.
Genetic diagnosis was performed by NGS and Sanger analysis. In silico predictions were performed using SIFT, PolyPhen-2, and Mutation Taster. ...CONCLUSION: The clinical and imaging findings of patients with POLR1C hypomyelinating leukodystrophy are reviewed. …
Genetic diagnosis was performed by NGS and Sanger analysis. In silico predictions were performed using SIFT, PolyPhen-2, and Mutation …
Item in Clipboard
Myelin oligodendrocyte glycoprotein and aquaporin-4 antibodies are highly specific in children with acquired demyelinating syndromes.
Duignan S, Wright S, Rossor T, Cazabon J, Gilmour K, Ciccarelli O, Wassmer E, Lim M, Hemingway C, Hacohen Y.
Duignan S, et al.
Dev Med Child Neurol. 2018 Sep;60(9):958-962. doi: 10.1111/dmcn.13703. Epub 2018 Feb 22.
Dev Med Child Neurol. 2018.
PMID: 29468668
Free article.
Of the children with longitudinal samples, 8 out of 13 AQP4-Ab remained positive during the disease course compared to 35 out of 43 MOG-Ab (13/16 monophasic and 22/27 relapsing). ...Myelin oligodendrocyte glycoprotein antibodies are not identified in children with peripher …
Of the children with longitudinal samples, 8 out of 13 AQP4-Ab remained positive during the disease course compared to 35 out of 43 M …
Item in Clipboard
Cite
Cite