Associated Papers
CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy.
Ha C et al.
Journal of Human Genetics, 2024
Protein Aggregation and Cataract: Role of Age-Related Modifications and Mutations in α-Crystallins.
Budnar P et al.
Biochemistry. Biokhimiia, 2022
Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.
Tedesco B et al.
Frontiers in Molecular Biosciences, 2022
35281256 (PubMed )
Supplement: DataSheet1.docx
Case report: Fatal infantile hypertonic myofibrillar myopathy with compound heterozygous mutations in the CRYAB gene.
Zhang SS et al.
Frontiers in Pediatrics, 2022
c.3G>A mutation in the CRYAB gene that causes fatal infantile hypertonic myofibrillar myopathy in the Chinese population.
Lu XG et al.
Journal of Integrative Neuroscience, 2021
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Sarparanta J et al.
International Journal of Molecular Sciences, 2020
A novel homozygous initiation codon variant associated with infantile alpha-Bcrystallinopathy in a Chinese family.
Ma K et al.
Molecular Genetics & Genomic Medicine, 2019
Congenital posterior pole cataract and adult onset dilating cardiomyopathy: expanding the phenotype of αB-crystallinopathies.
van der Smagt JJ et al.
Clinical Genetics, 2014
Mutations of small heat shock proteins and human congenital diseases.
Datskevich PN et al.
Biochemistry. Biokhimiia, 2012
Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy.
Del Bigio MR et al.
Annals of Neurology, 2011
Neuropathy- and myopathy-associated mutations in human small heat shock proteins: Characteristics and evolutionary history of the mutation sites.
Benndorf R et al.
Mutation Research. Reviews in Mutation Research, 0
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