Results 221 to 230 of about 7,260,719 (373)

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao   +34 more
wiley   +1 more source

Skin calcium deposits in primary familial brain calcification: A novel potential biomarker

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting
Aron Emmi   +8 more
wiley   +1 more source

Cerebral autoregulation in patients with acute lacunar infarction: a reliable predictor of outcome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective To further investigate the association between dynamic cerebral autoregulation (dCA) and the outcomes in patients with acute lacunar infarction. Methods Patients were prospectively and consecutively enrolled at The First Hospital of Jilin University between 2016 and 2023. dCA was monitored at 1–3 and 7–10 days after the stroke.
Xiang‐Kun Si   +7 more
wiley   +1 more source

Amygdala Neurodegeneration: A Key Driver of Visual Dysfunction in Parkinson's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Visual disability in Parkinson's disease (PD) is not fully explained by retinal neurodegeneration. We aimed to delineate the brain substrate of visual dysfunction in PD and its association with retinal thickness. Methods Forty‐two PD patients and 29 controls underwent 3‐Tesla MRI, retinal spectral‐domain optical coherence tomography,
Asier Erramuzpe   +15 more
wiley   +1 more source

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