Results 301 to 310 of about 2,908,916 (364)

Heterozygous variants in AP4S1 are not associated with a neurological phenotype

open access: yesAnnals of Clinical and Translational Neurology, Volume 12, Issue 4, Page 851-854, April 2025.
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

JACMP 2025–2029 and beyond

open access: yes
Journal of Applied Clinical Medical Physics, EarlyView.
Michael Mills
wiley   +1 more source

Ethnoracial disparities in gray matter atrophy are mediated by structural disconnectivity in multiple sclerosis

open access: yesAnnals of Clinical and Translational Neurology, Volume 12, Issue 3, Page 615-630, March 2025.
This study aimed to assess gray matter (GM) atrophy, the contribution of white matter (WM) lesions, and consequent structural disconnectivity in minority patients with multiple sclerosis (PwMS). Minority PwMS were found to have greater lesion burden and GM atrophy. Differences in GM atrophy were partially mediated by WM pathology. Abstract Objective To
Ahmed Bayoumi   +8 more
wiley   +1 more source

Novel pathogenic mtDNA variants in Chinese children with neurological mitochondrial disorders

open access: yesAnnals of Clinical and Translational Neurology, Volume 12, Issue 3, Page 586-601, March 2025.
Abstract Objective Pathogenic variations in the mitochondrial genome are tightly linked to neurological mitochondrial disorders in children. However, the mutation spectrum of mitochondrial DNA (mtDNA) in the Chinese population remains incomplete. Therefore, the primary objective of our study was to comprehensively characterize pathogenic mtDNA variants
Zhimei Liu   +15 more
wiley   +1 more source

Comparison of offspring outcomes in women with and without epilepsy

open access: yesAnnals of Clinical and Translational Neurology, Volume 12, Issue 3, Page 577-585, March 2025.
Abstract Objective The potential impact of antiseizure medications (ASMs) on abortion rate and bone metabolism in the offspring of pregnant women with epilepsy (WWE) is currently unknown. This research aimed to assess the potential risk by conducting a comparative analysis of bone metabolism‐related indicators in the offspring of WWE.
Huali Luo   +5 more
wiley   +1 more source

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

open access: yesAnnals of Clinical and Translational Neurology, Volume 12, Issue 4, Page 821-831, April 2025.
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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