Annals of Neurology, EarlyView.Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse +16 more
wiley +1 more source
Protective role of Zinc glycine in LPS-induced acute kidney injury in geese: Inhibition of oxidative stress and ferroptosis through Nrf2/GPX4 signaling. [PDF]
Poult SciZulfiqar Z +11 more
europepmc +1 more source
Inductive Logic Programming for Symbol Recognition
IEEE International Conference on Document Analysis and Recognition, 2009 K. Santosh +2 more
semanticscholar +1 more source
Annals of Neurology, EarlyView.Objective De novo mutations in the syntaxin‐binding protein 1 (STXBP1), encoded by STXBP1, are among the most prevalent causes of variable neurodevelopmental disorders, including epileptic encephalopathy, developmental delay, and movement disorders.
Tao Yang +7 more
wiley +1 more source
Hydroxycarboxylic Acid Receptor 2 Mediates β‐hydroxybutyrate's Antiseizure Effect in Mice
Annals of Neurology, EarlyView.A Objective The ketogenic diet, a high‐fat, low‐carbohydrate regimen, is often used to treat drug‐resistant seizures and is being studied for Alzheimer's disease and other neuropsychiatric disorders. However, its mechanism of action remains unclear. β‐hydroxybutyrate, a primary circulating ketone body produced by the ketogenic diet, may mediate its ...
Soudabeh Naderi +10 more
wiley +1 more source
Metabolic status and brain health: the relationship between the metabolic score for insulin resistance and cognitive function in older adults. [PDF]
Eur J Med ResGu B, Bu Y, Hao Z, Song M, Chen J.
europepmc +1 more source
Formal analysis of kinship terminologies and its relationship to what constitutes kinship
, 2000 D. Read
semanticscholar +1 more source
Probabilistic Lesion Mapping to Optimize Thalamotomy Targets for Focal Hand Dystonia
Annals of Neurology, EarlyView.Objective Focal hand dystonia (FHD) severely impairs task‐specific motor control, yet the optimal surgical target for stereotactic intervention remains uncertain. This study aimed to identify the precise thalamic lesion site associated with symptomatic improvement and to clarify its network connectivity. Methods We retrospectively analyzed 164 patients
Masahiko Nishitani +12 more
wiley +1 more source
Neural Mechanisms of the Impact of Rotated Terrain Symbols on Spatial Representation in Orienteers: Evidence from Eye-Tracking and Whole-Brain fNIRS Synchronization. [PDF]
Behav Sci (Basel)Ou S, Liu T, Liu Y.
europepmc +1 more source