Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.
Bar O et al.
Frontiers in Neurology, 2023
Neuroimaging findings in leukoencephalopathy with calcifications and cysts: case report and review of the literature.
Picchi E et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
Leukoencephalopathy with cerebral calcification and cysts: Cases report and literature review.
Wang M et al.
Journal of the Neurological Sciences, 2016
Atypical MRI features in familial adult onset Alexander disease: case report.
Liu Y et al.
Bmc Neurology, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
GFAP and its role in Alexander disease.
Quinlan RA et al.
Experimental Cell Research, 2007
Propensity for paternal inheritance of de novo mutations in Alexander disease.
Li R et al.
Human Genetics, 2006
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.
Li R et al.
Annals of Neurology, 2005
Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene.
Thyagarajan D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2004
Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.
Gorospe JR et al.
Neurology, 2002
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.
Rodriguez D et al.
American Journal of Human Genetics, 2001
Alexander disease: new insights from genetics.
Messing A et al.
Journal of Neuropathology and Experimental Neurology, 2001
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.
Brenner M et al.
Nature Genetics, 2001