Zobrazeno 1 - 2
of 2
pro vyhledávání: '"ALSP, adult onset leukoencephalopathy with axonal spheroids and pigmented glia"'
Autor:
Mads Bak, Nelsan Pourhadi, Christian Stenör, Sabine Grønborg, Tobias Melton Axelsen, Tzvetelina Lubenova Vammen
Publikováno v:
Molecular Genetics and Metabolism Reports
Axelsen, T M, Vammen, T L, Bak, M, Pourhadi, N, Stenør, C M & Grønborg, S 2021, ' Case report : ‘AARS2 leukodystrophy’ ', Molecular Genetics and Metabolism Reports, vol. 28, 100782 . https://doi.org/10.1016/j.ymgmr.2021.100782
Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100782-(2021)
Axelsen, T M, Vammen, T L, Bak, M, Pourhadi, N, Stenør, C M & Grønborg, S 2021, ' Case report : ‘AARS2 leukodystrophy’ ', Molecular Genetics and Metabolism Reports, vol. 28, 100782 . https://doi.org/10.1016/j.ymgmr.2021.100782
Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100782-(2021)
Background Mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) related disease is a rare genetic disorder affecting mitochondrial metabolism, leading to severe cardiac disease in infants or progressive leukodystrophy in young adults. The disease is c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6730500e70bef47a36c79058dc129030
http://europepmc.org/articles/PMC8280508
http://europepmc.org/articles/PMC8280508
Autor:
Kim M. Summers, Clare Pridans, Stephen J. Bush, Arnauld Belmer, Sahar Keshvari, Melanie Caruso, Ngari Teakle, Omkar L. Patkar, David A. Hume, Katharine M. Irvine
Publikováno v:
Neurobiology of Disease, Vol 151, Iss, Pp 105268-(2021)
Neurobiology of Disease
Patkar, O L, Caruso, M, Teakle, N, Keshvari, S, Bush, S J, Pridans, C, Belmer, A, Summers, K M, Irvine, K M & Hume, D A 2021, ' Analysis of homozygous and heterozygous Csf1r knockout in the rat as a model for understanding microglial function in brain development and the impacts of human CSF1R mutations. ', Neurobiology of disease, vol. 151, 105268 . https://doi.org/10.1016/j.nbd.2021.105268
Neurobiology of Disease
Patkar, O L, Caruso, M, Teakle, N, Keshvari, S, Bush, S J, Pridans, C, Belmer, A, Summers, K M, Irvine, K M & Hume, D A 2021, ' Analysis of homozygous and heterozygous Csf1r knockout in the rat as a model for understanding microglial function in brain development and the impacts of human CSF1R mutations. ', Neurobiology of disease, vol. 151, 105268 . https://doi.org/10.1016/j.nbd.2021.105268
Mutations in the human CSF1R gene have been associated with dominant and recessive forms of neurodegenerative disease. Here we describe the impacts of Csf1r mutation in the rat on development of the brain. Diffusion imaging indicated small reductions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32625659cf689d932de2ae17ab66e144
https://doi.org/10.1016/j.nbd.2021.105268
https://doi.org/10.1016/j.nbd.2021.105268