Results 181 to 190 of about 735,599 (336)

The Diverse Neuromuscular Spectrum of VPS13A Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger   +16 more
wiley   +1 more source

The Impact of Tilburg Frailty on Poststroke Fatigue in First‐Ever Stroke Patients: A Cross‐Sectional Study With Unified Measurement Tools and Improved Statistics

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Poststroke fatigue (PSF) and frailty share substantial overlap in their manifestations, yet previous research has yielded conflicting results due to the use of heterogeneous frailty assessment tools. Objective To evaluate the independent impact of frailty on PSF using a unified measurement system (Tilburg Frailty Indicator, TFI ...
Chuan‐Bang Chen   +6 more
wiley   +1 more source

AB0009 Genetic association of mitochondrial dna polymorphisms with behÇet's disease in a korean population [PDF]

open access: bronze, 2018
Mi‐Hye Kwon   +7 more
openalex   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco   +18 more
wiley   +1 more source

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape [PDF]

open access: gold, 2023
Tsz-sum Wong   +72 more
openalex   +1 more source

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