Results 201 to 210 of about 4,312,287 (298)

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

The impact of job burnout on public service motivation and the moderating role of perceived organizational support: a survey among resident work team members in Chinese villages. [PDF]

Front Psychol
Zhu Z, Shao L, Zou H, Xu W, Sheng Y.
europepmc   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

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, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

CSF Cytokine Network Organization Predicts Progression Independent of Relapse and MRI Activity in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progression independent of relapse activity is a major determinant of long‐term disability in multiple sclerosis, but its immunopathologic basis remains incompletely understood. We investigated whether relapse‐independent progression in radiologically stable relapsing–remitting multiple sclerosis is associated with distinct ...
Antonio Bruno, Matteo Conti, Ettore Dolcetti, Federica Azzolini, Angela Borrelli, Roberta Fantozzi, Mario Stampanoni Bassi, Giovanni Galifi, Giuseppe Maccarrone, Luca Montaguti, Marco Cervigni, Maddalena Dal Pozzo, Roberto Furlan, Annamaria Finardi, Girolama Alessandra Marfia, Marco Salvetti, Antonella Conte, Fabio Buttari, Diego Centonze, Luana Gilio   +19 more
wiley   +1 more source

Strategic leadership in elite sport organizations: a systematic review of governance, leadership, and performance systems. [PDF]

Front Sports Act Living
Qarouach A, Cairney J, Saqri N.
europepmc   +1 more source

The Comprehensive Live Cell‐Based Cytotoxicity Assay for Monitoring Disease Activity and Guiding Rescue Therapy in Acute Attacks of NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a devastating neurological disease that lacks serological biomarkers that can accurately reflect disease activity. We established a live cell‐based assay (LCBA) using serum with endogenous complement to quantify the overall cytotoxicity, offering a novel functional tool for monitoring
Xiaona Xu, Jie Ding, Yupeng Du, Guibao Luo, Jinming Li, Rui Liu, Xiaoyi Xu, Xiao Li, Minshu Li, Wei Jiang, Chunsheng Yang   +10 more
wiley   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

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, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Leadership and Employees' Mental Health Under Disruption: A Scoping Review and Critical Interpretive Synthesis. [PDF]

Eur J Investig Health Psychol Educ
Santiago-Torner C, Tarrats-Pons E, Corral-Marfil JA.   +2 more
europepmc   +1 more source

Boundary‐Dependent Sleep–Wake Dysregulation in Idiopathic Hypersomnia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Idiopathic hypersomnia (IH) presents with excessive daytime sleepiness (EDS) despite apparently preserved nocturnal sleep, challenging traditional models of hypersomnolence based on sleep loss or fragmentation. We aimed to test the hypothesis that EDS in IH reflects excessive stabilization of the sleep state, consistent with ...
Samantha Mombelli, Karine Lacourse, Hélène Blais, Anne‐Sophie Deshaies‐Rugama, Cynthia Thompson, Alex Desautels, Jacques Montplaisir, Milan Nigam, Christophe Moderie, Boshra Khajehpiri, Catherine Duclos, Jean Marc Lina, Julie Carrier, Nadia Gosselin   +13 more
wiley   +1 more source

Clinical Impact of MGMT Promoter Methylation in IDH‐Mutant Gliomas: Influence of Threshold Selection and Clinical Confounding

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background The clinical relevance of MGMT promoter methylation in IDH‐mutant gliomas remains controversial in the era of molecular classification. We aimed to systematically evaluate its clinical relevance by integrating quantitative assessment, cutoff exploration, and adjustment for clinical confounding.
Haihui Jiang, Linxi Cao, Xiaodong Chen, Siqi Tong, Qinghui Zhu, Jun Yang, Song Lin, Yong Cui   +7 more
wiley   +1 more source