Results 181 to 190 of about 634,419 (341)

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

ALS plasma biomarkers reveal neurofilament and pTau correlate with disease onset and progression

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective We performed a pilot screen to assess the utility of the NULISA™ (Nucleic‐acid‐Linked Immuno‐Sandwich Assay) platform in the identification of amyotrophic lateral sclerosis (ALS) biomarkers. Methods Plasma from 86 individuals (48 ALS, 18 asymptomatic C9orf72 repeat expansion carriers (AsymC9), and 20 healthy controls) was analyzed ...
Eleanor V. Thomas   +10 more
wiley   +1 more source

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs   +8 more
wiley   +1 more source

Global low-energy weak solutions for compressible magneto-micropolar fluids with discontinuous initial data in R^3

open access: yesElectronic Journal of Differential Equations, 2023
Wanping Wu, Yinghui Zhang
doaj  

Capturing what matters: Patient‐reported LGI1‐ANTibody encephalitis outcome RatiNg scale (LANTERN)

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Background LGI1‐antibody encephalitis (LGI1‐Ab‐E) is a common form of autoimmune encephalitis where most patients demonstrate ‘good’ clinician‐rated outcomes. However, more targeted questionnaires reveal numerous debilitating symptoms for many years.
Mark J Kelly   +9 more
wiley   +1 more source

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