Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants. [PDF]
Eur J Hum Genet, 2023 Haghighi A +6 more
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Discovery of a KLHL41 Ligand for Muscle Specific Protein Degradation. [PDF]
Nat CommunYim J +11 more
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Proximity-dependent protein (de)stabilization: screening the human ORFeome for protein degraders and stabilizers. [PDF]
Signal Transduct Target TherHermanns T, Hofmann K.
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Perinatal genetic diagnostic yield in a population of fetuses with the phenotype arthrogryposis multiplex congenita: a cohort study 2007-2021. [PDF]
Eur J Hum GenetArduç A +5 more
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Bone Quality in Patients with a Congenital Myopathy: A Scoping Review. [PDF]
J Neuromuscul Dis, 2023 Bouman K +7 more
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A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series. [PDF]
J Med Case RepSaleem S +4 more
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A Viewpoint on Reframing Genetic Myopathy Classification: A Unified, Semiotic, Tri-Axis Approach. [PDF]
Ann Indian Acad NeurolKhadilkar SV, Halani HA.
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Severe myopathy in mice lacking the MEF2/SRF-dependent gene leiomodin-3.
Journal of Clinical Investigation, 2015 Bercin K. Cenik +7 more
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The evolving genetic landscape of neuromuscular fetal akinesias. [PDF]
J Neuromuscul DisHaliloğlu G, Ravenscroft G.
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