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
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
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
Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease.
Yoshida T et al.
Journal of Human Genetics, 2013
A case of adult-onset alexander disease featuring severe atrophy of the medulla oblongata and upper cervical cord on magnetic resonance imaging.
Yonezu T et al.
Case Reports in Neurology, 2012
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.
Yoshida T et al.
Journal of Neurology, 2011
Glial fibrillary acidic protein mutations in adult-onset Alexander disease: clinical features observed in 12 Japanese patients.
Yoshida T et al.
Acta Neurologica Scandinavica, 2011
Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.
Pareyson D et al.
Brain : a Journal of Neurology, 2008
An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein.
Ohnari K et al.
Journal of Neurology, 2007
[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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