Results 191 to 200 of about 1,455,401 (342)

Heterozygous variants in AP4S1 are not associated with a neurological phenotype

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Biallelic loss‐of‐function variants in AP4S1 cause childhood‐onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same
Vicente Quiroz   +9 more
wiley   +1 more source

CSF cytokine, chemokine and injury biomarker profile of glial fibrillary acidic protein (GFAP) autoimmunity

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Defining the CSF cytokine/chemokine and injury biomarker signature of glial fibrillary acidic protein (GFAP) autoimmunity can inform immunopathogenesis. CSF GFAP‐IgG‐positive samples (N = 98) were tested for 17 cytokines/chemokines, neurofilament light chain (NfL), and GFAP (ELLA, Bio‐Techne).
Yahel Segal   +11 more
wiley   +1 more source

Twelve‐month change in quantitative MRI calf muscle fat fraction in CMT1A predicts clinical change over 4 years

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective We measured clinical and quantitative MRI outcome measures in CMT1A to assess long‐term responsiveness, establish longitudinal validity and assess MRI as a bridging biomarker. Methods Twenty patients with CMT1A and 20 matched controls underwent MRI, myometry and clinical assessments up to four times over mean 4‐year follow‐up ...
Matthew R. B. Evans   +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

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