ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu +5 more
wiley +1 more source
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
The development of false-belief understanding in Japanese children: Delay and difference?
Mika Naito, Kayo Koyama
openalex +2 more sources
Inhibition of Classical and Alternative Complement Pathway by Ravulizumab and Eculizumab
ABSTRACT Objective To explore the feasibility of classical (CH50) and alternative (AH50) complement pathway activity as potential biomarkers for treatment guidance and monitoring during therapy with ravulizumab in patients with generalized myasthenia gravis (gMG) and compare these to therapeutic drug monitoring under eculizumab.
Lea Gerischer +14 more
wiley +1 more source
MAKING AND MANAGING ELECTRONIC CHILDREN: E-assessment in child welfare
Sue Peckover, Susan W. White, Ian Hall
openalex +2 more sources
Excess weight in preschool children: The role of food intake [PDF]
Dayse Rafaele Lima Dos SANTOS +2 more
openalex +1 more source
Changes in Immune‐Inflammation Status and Acute Ischemic Stroke Prognosis in Prospective Cohort
ABSTRACT Background Inflammation is a critical risk factor for poor outcomes in cerebral infarction. Prior studies focused primarily on baseline inflammation status, neglecting dynamic longitudinal changes. We try to investigate the association between immune‐inflammation status alterations and stroke prognosis, and evaluated three systemic biomarkers'
Songfang Chen +11 more
wiley +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
Transfer of spatial search between environments in human adults and young children (Homo sapiens): Implications for representation of local geometry by spatial systems [PDF]
Adina R. Lew +6 more
openalex +1 more source
Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source

