Associated Papers
Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.
Fernández-Eulate G et al.
Brain : a Journal of Neurology, 2025
[A case of myofibrillary myopathy due to Bcl2-Associated Athanogene 3 (BAG3) mutation complicated by peripheral neuropathy].
Nagatomo R et al.
Rinsho Shinkeigaku = Clinical Neurology, 2023
The chaperone-assisted selective autophagy complex dynamics and dysfunctions.
Tedesco B et al.
Autophagy, 2023
Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature.
Wei XJ et al.
Frontiers in Neurology, 2023
37188302 (PubMed )
Supplement: Data_Sheet_1.pdf
Genetics of BAG3: A Paradigm for Developing Precision Therapies for Dilated Cardiomyopathies.
Qu HQ et al.
Journal of the American Heart Association, 2022
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
A family with adult-onset myofibrillar myopathy with BAG3 mutation (P470S) presenting with axonal polyneuropathy.
Hamaguchi M et al.
Neuromuscular Disorders : Nmd, 2020
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Sarparanta J et al.
International Journal of Molecular Sciences, 2020
A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.
Gu F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30700791 (PubMed )
Supplement: NIHMS1521482-supplement-Large_Excel_File_1.xlsx › ConfirmedDiagnosesAgreed
Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks.
Meister-Broekema M et al.
Nature Communications, 2018
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