Results 221 to 230 of about 158,757 (318)

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan   +14 more
wiley   +1 more source

Shady Dealings: A Qualitative Review of Internet‐Based Sunglasses‐Related Misinformation

open access: yes
JEADV Clinical Practice, EarlyView.
A. M. O'Leary, C. O'Connor, M. Murphy
wiley   +1 more source

Progressive Supranuclear Palsy in India: Insights from a Large Multicenter Clinical Cohort (Project PAIR‐PSP)

open access: yesMovement Disorders Clinical Practice, EarlyView.
Background Progressive supranuclear palsy (PSP) is a rare and devastating tauopathy with limited global data. Given India's large population, genetic diversity, and clinical heterogeneity, large multicenter datasets are crucial to enrich global understanding of PSP. Objective To characterize the demographic, clinical, and phenotypic profiles of a large
Prashanth Lingappa Kukkle   +31 more
wiley   +1 more source

Cognitive, Motor and Oculomotor Contributions to the Trail Making Test in Progressive Supranuclear Palsy

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Progressive supranuclear palsy (PSP) is a neurodegenerative disorder characterized by motor, oculomotor and cognitive impairments. Yet disentangling cognitive deficits from motor and oculomotor dysfunction remains a diagnostic and methodological challenge.
Indira Garcia‐Cordero   +12 more
wiley   +1 more source

A Brainstem Radiomics Framework to Distinguish Progressive Supranuclear Palsy from Parkinson's Disease

open access: yesMovement Disorders, EarlyView.
Abstract Background Differentiating progressive supranuclear palsy (PSP) from Parkinson's disease (PD) can be clinically challenging. In the neuroimaging field, radiomics has emerged as a promising approach to capture subtle microstructural and textural image alterations, improving differential diagnoses.
Chiara Camastra   +8 more
wiley   +1 more source

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