Results 241 to 250 of about 451,044 (311)

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

A federated learning framework for deep imputation of missing data in heterogeneous ICU time series. [PDF]

Sci Rep
Vavekanand R, Sathio AA, Sultani M.
europepmc   +1 more source

Effectiveness of rTMS on Working Memory and Inhibitory Impairments in Patients With Post‐Stroke Executive Deficits

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Considerable efforts have been dedicated to developing effective treatments for post‐stroke executive impairment (PSEI), among which repetitive transcranial magnetic stimulation (rTMS) has shown great potential. This study aimed to investigate the therapeutic effects of high‐frequency rTMS on working memory (WM) and response ...
Mengting Lao, Rongwei Du, Zhujun Wang, Yang Gao, Meiling Cheng, Xianglong Wang, Wen Wu   +6 more
wiley   +1 more source

Risk of Ocular Hypertension With Intravitreal Triamcinolone Compared to the Dexamethasone Implant. [PDF]

J Vitreoretin Dis
Chebolu AP, Chen Y, Jin F, VanderBeek BL.   +3 more
europepmc   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Automated identification of MRI series using a hierarchical modular machine-learning pipeline. [PDF]

Eur Radiol Exp
Kujawa MJ, Fernández-Patón M, Cerdá Alberich L, Veiga-Canuto D, Martí-Bonmatí L.   +4 more
europepmc   +1 more source

Learning new perceptual skills: Individual differences in the computations that integrate novel sensory cues into depth perception. [PDF]

iScience
Scheller M, Aston S, Chazelle T, Allen C, Slater H, Nardini M.   +5 more
europepmc   +1 more source

Stakeholder priorities for sustaining operations and maintenance of school sanitation facilities in Kampala City, Uganda. [PDF]

Discov Public Health
Byansi JZ, Semiyaga S, Katukiza AY, Bateganya NL, Nakaye AM, Kansiime F, Kulabako RN.   +6 more
europepmc   +1 more source

Evaluating the Impact of Robot-Assisted Laparoscopic Pyeloplasty (RALP) on Pediatric Hydronephrosis with and Without Abdominal Pain Symptoms: A Cohort Study Using Inverse Probability of Treatment Weighting (IPTW). [PDF]

J Clin Med
Zhao Y, Yang F, Zhu L, Huang W, Wang X, Yan X, Chen G.   +6 more
europepmc   +1 more source

Housing Displacement, Employment Disruption, and Mental Health After the 2023 Maui Wildfires.

JAMA Psychiatry
Juarez R, Le B, Knightsbridge C, Lowery M, Maunakea AK.   +4 more
europepmc   +1 more source