Associated Papers
A systematic review and meta-analysis of GFAP gene variants in Alexander disease.
Grossi A et al.
Scientific Reports, 2024
39420046 (PubMed )
Supplement: 41598_2024_75383_MOESM2_ESM.xlsx › Suppl._Table_2
Alexander disease GFAP R239C mutant shows increased susceptibility to lipoxidation and elicits mitochondrial dysfunction and oxidative stress.
Viedma-Poyatos Á et al.
Redox Biology, 2022
A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes.
Kang YR et al.
European Journal of Human Genetics : Ejhg, 2022
A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease.
Song X et al.
Molecular Medicine Reports, 2021
Towards genomic database of Alexander disease to identify variations modifying disease phenotype.
Yasuda R et al.
Scientific Reports, 2019
[A case of Alexander disease with dropped head syndrome].
Maeda K et al.
Rinsho Shinkeigaku = Clinical Neurology, 2018
Quantitative Evaluation of Brain Stem Atrophy Using Magnetic Resonance Imaging in Adult Patients with Alexander Disease.
Yoshida T et al.
European Neurology, 2017
[A case of juvenile Sandhoff disease].
Mitsuo K et al.
Rinsho Shinkeigaku = Clinical Neurology, 1990
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