Konu "Spinal Muscular Atrophy" için Makale Koleksiyonu listeleme
Toplam kayıt 3, listelenen: 1-3
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Casting light on mechanical properties of lower and upper extremity muscles in children with spinal muscular atrophy and healthy peers
(2024)Objective: This study aimed to compare the mechanical properties of upper and lower extremities between children with spinal muscular atrophy types 1 and 2 and healthy peers. Methods: The study included children with spinal ... -
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
(Elsevier Masson s.r.l., 2022)Transcriptional coregulators modulate the efficiency of transcription factors. Bi-allelic variants in TRIP4 and ASCC1, two genes that encode members of the tetrameric coregulator ASC-1, have recently been associated with ... -
Reliability and validity of the Turkish translation of the pedsql™ 3.0 neuromuscular module for 2-to 4-year-olds in spinal muscular atrophy
(2024)Background The Pediatric Quality of Life Inventory (TM) (PedsQL (TM)) Neuromuscular Module (PedsQL (TM) 3.0 NM) evaluates the health-related quality of life in children who are affected by neuromuscular diseases. This ...