ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source
Interaction patterns for refining behaviour specifications of context-aware mobile services
Laura Daniele +2 more
openalex +2 more sources
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela +13 more
wiley +1 more source
Correction: Leverage zones in Responsible AI: towards a systems thinking conceptualization
Ehsan Nabavi, Chris Browne
doaj +1 more source
Awareness is Not Enough: Commitment, Adoption, and Performance Implications of Supply Chain Integration [PDF]
Yao Jin +2 more
openalex
Body Oracle: Exploring Somatic Hieroglyphs for Collective Bodily Awareness [PDF]
Danlin Huang +3 more
openalex +1 more source
Awareness, Views, Perceptions, and Beliefs of Pharmacy Interns Regarding Digital Health in Saudi Arabia: Cross-sectional Study [PDF]
Saud Alsahali
openalex +1 more source
The Case of a 28‐Year‐Old Woman With Medically Refractory Focal Epilepsy
ABSTRACT We present the case of a 28‐year‐old right‐handed woman with medically refractory focal epilepsy. Her seizure semiology and electroencephalography (EEG) indicated a seizure onset zone in the right central‐parietal area. However, both MRI and PET scans were unremarkable, showing no focal lesions or areas of altered metabolism.
Rishi Sharma +5 more
wiley +1 more source
Use of Symptomatic Drug Treatment for Fatigue in Multiple Sclerosis and Patterns of Work Loss
ABSTRACT Objective To describe the use of central stimulants and amantadine for fatigue in MS and evaluate a potential association with reduced work loss in people with MS. Methods We conducted a nationwide, matched, register‐based cohort study in Sweden (2006 to 2023) using national registers with prospective data collection.
Simon Englund +3 more
wiley +1 more source
Post‐COVID Fatigue Is Associated With Reduced Cortical Thickness After Hospitalization
ABSTRACT Objective Neuropsychiatric symptoms are among the most prevalent sequelae of COVID‐19, particularly among hospitalized patients. Recent research has identified volumetric brain changes associated with COVID‐19. However, it currently remains poorly understood how brain changes relate to post‐COVID fatigue and cognitive deficits.
Tim J. Hartung +190 more
wiley +1 more source

