Associated Papers
Bilateral vestibulopathy in Alexander disease type II- a case report.
Hofmann JB et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2025
Genotype-Phenotype Association for 14 GFAP Variants in Alexander Disease.
Messing A et al.
Neurology. Genetics, 2025
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort.
Beijer D et al.
Ebiomedicine, 2025
Genomic and clinical characterization of pediatric lymphoepithelioma-like carcinoma.
Que Y et al.
Journal of Translational Medicine, 2024
A systematic review and meta-analysis of GFAP gene variants in Alexander disease.
Grossi A et al.
Scientific Reports, 2024
Adult-onset Alexander disease among patients of Jewish Syrian descent.
Anis S et al.
Neurogenetics, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.
Heshmatzad K et al.
European Journal of Medical Research, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Clinical and radiological characteristics of older-adult-onset Alexander disease.
Yoshida T et al.
European Journal of Neurology, 2021
A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease.
Song X et al.
Molecular Medicine Reports, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Novel GFAP p. Glu206Ala Mutation in Alexander Disease with Decreased Dopamine Transporter Uptake.
Ogawa T et al.
Movement Disorders Clinical Practice, 2020
A case report of adult-onset Alexander disease clinically presenting as Parkinson's disease: is the comorbidity associated with genetic susceptibility?
Park J et al.
Bmc Neurology, 2020
Towards genomic database of Alexander disease to identify variations modifying disease phenotype.
Yasuda R et al.
Scientific Reports, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Quantitative Evaluation of Brain Stem Atrophy Using Magnetic Resonance Imaging in Adult Patients with Alexander Disease.
Yoshida T et al.
European Neurology, 2017
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
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
Can MR imaging diagnose adult-onset Alexander disease?
Farina L et al.
Ajnr. American Journal of Neuroradiology, 2008
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.
Caroli F et al.
Clinical Genetics, 2007
Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction.
Gorospe JR et al.
Mental Retardation and Developmental Disabilities Research Reviews, 2006
Adult Alexander's disease without leukoencephalopathy.
Salvi F et al.
Annals of Neurology, 2005
[An atypical presentation of Infantile Alexander disease lacking macrocephaly].
Esmer C et al.
Boletin Medico Del Hospital Infantil De Mexico, 0