Associated Papers
The missense mutation C667F in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization.
Tan RL et al.
Disease Models & Mechanisms, 2024
Next-Generation sequencing transforming clinical practice and precision medicine.
Yadav D et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023
Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.
Özyilmaz B et al.
Annals of Human Genetics, 2019
A molecular overview of the primary dystroglycanopathies.
Brancaccio A
Journal of Cellular and Molecular Medicine, 2019
Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy.
Dai Y et al.
Journal of Cellular and Molecular Medicine, 2019
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