Results 41 to 50 of about 1,058 (195)

Neuroleukemiosis Masquerading as Drug Toxicity in an Adolescent With Refractory AML

American Journal of Hematology, EarlyView.
Nia Choi, Deborah Schady, Tim Lotze, Jill Ann Jarrell, Alexandra Rodriguez‐Hernandez, Sandra Aziz, Karen K. Moeller, Joanna S. Yi, Suzanne Woodbury, Andrea N. Marcogliese, Zoann E. Dreyer, Eric S. Schafer   +11 more
wiley   +1 more source

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

The Nutritional and Bioactive Components, Potential Health Function and Comprehensive Utilization of Hawthorn: A Review

Food Frontiers, EarlyView.
This review systematically and comprehensively analyzes hawthorn (Crataegus spp.), covering its bioactive constituents, properties, and processed products. ABSTRACT Hawthorn is widely cultivated in China, with excellent varieties and steadily increasing production.
Wenteng Yang, Quanhong Gao, Kun Ran, Mingyue Jiao, Xiaodan Fu, Zhenlin Han, Chao Liu, Ningyang Li   +7 more
wiley   +1 more source

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, EarlyView.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

MR‐Guidance of Gene Therapy for Brain Diseases: Moving From Palliative Treatment to Cures

Journal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT Regulatory bodies in the U.S. and Europe recently approved a gene therapy for aromatic L‐amino acid decarboxylase (AADC) deficiency, a rare neurologic disorder where a genetic mutation prevents dopamine production in the brain. Affected children fail to develop normal motor and cognitive functions.
Dalton H. Bermudez, Thomas Lilieholm, Walter F. Block   +2 more
wiley   +1 more source

Cell Apoptosis and Glucocorticoid‐Induced Osteonecrosis

Med Research, EarlyView.
The review identifies glucocorticoid‐induced osteocyte/osteoblast apoptosis as central to femoral head osteonecrosis (GION), mediated through STAT1‐caspase‐3, PI3K/Akt, Wnt/β‐catenin, and oxidative stress pathways. Emerging therapies targeting these pathways (e.g., HIF‐1α stabilization, AMPK activation, and exosome‐mediated miRNA delivery) show ...
Xiumei Tang, Yanyun Pang, Peijia Zhu, Zhengdong Zhang, Sen Guo, Zhijian Wei, Wenzhao Wang, Bin Ning   +7 more
wiley   +1 more source

Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology

Movement Disorders, EarlyView.
Abstract Background Therapeutic interventions in Friedreich's ataxia (FRDA) are progressing into clinical trials, and the need for robust and easily accessible biomarkers has arisen. Objective This study aimed to consolidate preliminary findings of changes in the levels of neurofilament light (NfL), glial fibrillary acidic protein (GFAP), Tau, and ...
Christian Rummey, Gilbert Thomas‐Black, Hector Garcia‐Moreno, David R. Lynch, Rosella Abeti, Huseyin Arisoy, Amanda Heslegrave, Henrik Zetterberg, Paola Giunti, the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)   +9 more
wiley   +1 more source

Central Pathophysiology and Brain Network Changes Related to Camptocormia in Parkinson's Disease

Movement Disorders, EarlyView.
ABSTRACT Background Studies on brain connectivity offer important insights into the changes that occur in central network diseases such as Parkinson's disease (PD). Camptocormia, a condition characterized by abnormal flexion of the trunk, often occurs in advanced PD, but its underlying mechanisms are not yet clear.
Tauqeer Anjum, Jan Raethjen, Hao Ding, Nabin Koirala, Rüdiger Pryss, Robin Wolke, Chi Wang Ip, Günther Deuschl, Jens Volkmann, Nils G. Margraf, Muthuraman Muthuraman   +10 more
wiley   +1 more source

Motor Unit Number Index (MUNIX) in Control Children: Reference Values and Reliability

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims The motor unit number index (MUNIX) is recognized as a reliable electrophysiological biomarker, and reference values are available for healthy adults but not for children. The aim of this study was to determine reference MUNIX values in healthy children.
Christophe Boulay, Emilien Delmont, Frédérique Audic, Cécile Halbert, Sébastien Pesenti, Brigitte Chabrol, Béatrice Desnous, Shahram Attarian   +7 more
wiley   +1 more source

Chronic generalized spinal muscular atrophy of infancy and childhood: Arrested Werdnig-Hoffmann disease [PDF]

, 1973
John Pearn, John Wilson
openalex   +1 more source