Associated Papers
The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.
Goto S et al.
Genes, 2026
Natural history of the severe subtype of MYH9-related disease (Epstein syndrome).
Shinno K et al.
European Journal of Internal Medicine, 2025
MYH9-related inherited thrombocytopenia: the genetic spectrum, underlying mechanisms, clinical phenotypes, diagnosis, and management approaches.
Shen K et al.
Research and Practice in Thrombosis and Haemostasis, 2024
39309229 (PubMed )
Supplement: mmc3.xlsx › HGMD
Effects of specific disease mutations in non-muscle myosin 2A on its structure and function.
Casas-Mao D et al.
The Journal of Biological Chemistry, 2024
38042490 (PubMed )
Supplement: mmc1.docx
A sporadic MYH9-related disease in a Chinese boy with p.A95T mutation.
Zhang W et al.
Hematology (amsterdam, Netherlands), 2020
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.
Pecci A et al.
Gene, 2018
A Japanese pedigree with a p.A95V mutation in the MYH9 gene demonstrates inherited macrothrombocytopenia without Alport manifestations.
Yokoi S et al.
Annals of Hematology, 2016
Cochlear implantation is safe and effective in patients with MYH9-related disease.
Pecci A et al.
Orphanet Journal of Rare Diseases, 2014
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.
Pecci A et al.
Human Mutation, 2014
MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation.
Economou M et al.
Journal of Pediatric Hematology/oncology, 2012
International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country.
Glembotsky AC et al.
Journal of Thrombosis and Haemostasis : Jth, 2012
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.
Pecci A et al.
Plos One, 2012
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
Savoia A et al.
Thrombosis and Haemostasis, 2010
MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.
de Rocco D et al.
Platelets, 2009
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.
Verver EJ et al.
Ear and Hearing, 0
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