Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Genotype-Phenotype Association for 14 GFAP Variants in Alexander Disease.
Messing A et al.
Neurology. Genetics, 2025
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
Developmental delay and progressive seizures in 2-month-old child with diffuse MRI abnormalities.
Mateos MK et al.
Brain Pathology (zurich, Switzerland), 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
Development of a system combining comprehensive genotyping and organoid cultures for identifying and testing genotype-oriented personalised medicine for pancreatobiliary cancers.
Shiihara M et al.
European Journal of Cancer (oxford, England : 1990), 2021
Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia.
Paprocka J et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
Infantile onset alexander disease with normal head circumference: a genetically proven case report.
Goyal M et al.
Journal of Clinical and Diagnostic Research : Jcdr, 2014
Alexander disease with mild dorsal brainstem atrophy and infantile spasms.
Torisu H et al.
Brain & Development, 2013
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.
Yoshida T et al.
Journal of Neurology, 2011
Serial MRI changes in a patient with infantile Alexander disease and prolonged survival.
Shiihara T et al.
Brain & Development, 2011
A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis.
Lee JM et al.
Journal of Korean Medical Science, 2006
[An atypical presentation of Infantile Alexander disease lacking macrocephaly].
Esmer C et al.
Boletin Medico Del Hospital Infantil De Mexico, 0
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