Results 131 to 140 of about 1,026,850 (295)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li +11 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Parenting style and child-feeding behavior in predicting children's weight status change in Taiwan
, 2013 [[abstract]]Objective The prevalence of overweight and obesity among children is on the rise worldwide. Prior studies find that parents’ child-feeding practices are associated with child weight status and the efficacy of specific parental child-feeding ...
董和銳;Tung, Ho-Jui;Ye, Ming-Chin;Yeh, Ming-Chin
core
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
The Predictors and Effects of Parenting Style on Student Development: A Parenting Style Model
, 1997 vi, 77 p.The purpose of the present study was to construct a parenting style model that identified predictors of parents' parenting style and the effects of the parents' parenting style on their children. Three hundred and fifty-six first-year students
Lam, Daniel K.
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem +9 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
Francesco Fortunato +7 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang +13 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective To evaluate utility of an artificial intelligence (AI) health coach for systemic sclerosis (SSc) self‐management and identify patterns associated with participant engagement. Methods We conducted a mixed methods study in which an AI health coach, powered by a large language model (LLM), was used to support self‐management for SSc.
Nirali Shah +4 more
wiley +1 more source