Associated Papers
Novel muscle MRI features in Desmin related myasthenic myopathy.
Baskar D et al.
Neuromuscular Disorders : Nmd, 2026
Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.
Polavarapu K et al.
Neuromuscular Disorders : Nmd, 2024
A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings.
Claes L et al.
Neuropediatrics, 2023
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.
Onore ME et al.
International Journal of Molecular Sciences, 2022
Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.
Durmus H et al.
Neuromuscular Disorders : Nmd, 2018
Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice.
Durmuş H et al.
Neurology, 2016
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