RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Association between participation in sports club activities and decision-making preferences in end-of-life treatment among Japanese elderly people:a cross-sectional study. [PDF]
Kasuga H +7 more
europepmc +1 more source
Distributed by Grasshopper Film, 12 East 32nd St., 4th Floor, New York, NY 10016Produced by Document Our History NowDirected by Tommaso Colognese and Vanna Hem2022, Streaming, 72 mins Shot over 5 years in Cambodia, Lotus Sports Club tells the story of Leak, a teenage transgender man, and his mentor, Pa Vann.
openaire +1 more source
Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS
ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan +14 more
wiley +1 more source
The relationship between exercise participation satisfaction, exercise commitment, and exercise adherence intention according to peer relationships among Korean school sports club participants. [PDF]
Jung TG, Jung MK, Lee JH, Kim MJ.
europepmc +1 more source
Well-being, physical fitness and health profile of 10-12 years old boys in relation to leisure-time sports club activities: a cross-sectional study. [PDF]
Larsen MN +8 more
europepmc +1 more source
ABSTRACT Objective Isolated rapid eye movement sleep behavior disorder (iRBD) is a prodromal state for Lewy body disorders and exhibits biological heterogeneity that may influence clinical expression and progression. We examined clinical features in individuals with iRBD and biomarker‐defined synucleinopathy.
Daniel Weintraub +24 more
wiley +1 more source
Adolescents' screen-based media use and the relationship with moderate-to-vigorous physical activity, sports club participation and active commuting. [PDF]
Haug E.
europepmc +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
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
The Relationship Between Sports Club Participation, Physical Activity, and Health Behaviors Among Older Korean Adults. [PDF]
Kwon J, Jang J.
europepmc +1 more source

