Results 51 to 60 of about 116,069 (304)
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley +1 more source
, 2022 The redox cofactor FAD is essential for mitochondrial functionality: in the inner- membrane it ensures the activity of the respiratory chain complex II and of the ETF/ETFQO system, in the matrix the oxidation of pyruvate and other α-oxoacids as well ...
Angela M.S. Lezza +25 more
core +1 more source
Arthritis Care &Research, EarlyView.Objective Several case reports have proposed a potential association between COVID‐19 vaccination and the subsequent development of idiopathic inflammatory myositis (IIM). This study examined prior COVID‐19 vaccination in US veterans who developed new‐onset IIM compared to those without new‐onset IIM.
Caleb Hernández +10 more
wiley +1 more source
Orphanet Journal of Rare Diseases, 2020 Background Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region.
Meng Yu +6 more
doaj +1 more source
Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan
Orphanet Journal of Rare Diseases, 2020 Background GNE myopathy is an autosomal recessive adult-onset distal myopathy. While a few case reports have described the progression of GNE myopathy during pregnancy, to our knowledge, none have examined disease progression after delivery or obstetric ...
Wakako Yoshioka +8 more
doaj +1 more source
A multistate transition model for statin‐induced myopathy and statin discontinuation
CPT: Pharmacometrics & Systems Pharmacology, 2021 The overarching goal of this study was to simultaneously model the dynamic relationships among statin exposure, statin discontinuation, and potentially statin‐related myopathic outcomes.
Yuxi Zhu +9 more
doaj +1 more source
A Nemaline Myopathy Presenting with Perinatal Asphyxia
, 2015 Nemaline myopathy is a rare hereditary neuromuscular disease characterized by variable degree of non-progressive or slowly progressive generalized muscle weakness. Clinical features are mostly related with muscle weakness and hypotonia.
Nisa Eda Çullas İlarslan +7 more
core +1 more source
Effects of Treadmill Exercise on Muscle Fibers in Mice with Steroid Myopathy. [PDF]
, 2001 We studied the effect of treadmill exercise on muscle fibers in mice with experimental steroid myopathy. Frozen sections of the extensor digitorum longus (EDL) and soleus (SOL) muscles were stained with hematoxylin-eosin, and the muscle fiber diameters ...
Watabe, Miwako +6 more
core +1 more source
Arthritis Care &Research, EarlyView.Objective The objective of this study was to describe the longitudinal disease course and pulmonary outcomes of North American patients with melanoma differentiation–associated protein 5 (MDA5) antibody–associated dermatomyositis (DM). Methods Thirty patients with MDA5 antibody–associated DM were identified in a single‐center longitudinal cohort of 352
Jenice X. Cheah +8 more
wiley +1 more source