Results 201 to 210 of about 12,471,578 (252)

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Genomic Insights into Dementia: Precision Medicine and the Impact of Gene-Environment Interaction. [PDF]

Aging Dis
Tripathi A, Pandey VK, Sharma G, Sharma AR, Taufeeq A, Jha AK, Kim JC.   +6 more
europepmc   +1 more source

Integrated PANoptosis Profiling Identifies Immunosuppressive Subtypes and a Prognostic Signature With Functional Validation of MLKL in Glioblastoma

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The prognosis of glioblastoma (GBM) remains highly unfavorable, largely due to high tumor heterogeneity and an immunosuppressive microenvironment. However, the functional role of PANoptosis in this context is poorly understood. Methods Patients were stratified via K‐means clustering. A risk score model was constructed using prognosis‐
Langfei Tian, Minghui Zhao, Yuanbo Hu, Kaiyue Wang, Haiguang Liu, Zetong Bai, Kebin Zheng   +6 more
wiley   +1 more source

High-Fat Diet-Fed Kcnq1 Mutant Mice Have Reduced Pancreatic β-Cell Mass via Gene-Environment Interaction. [PDF]

Diabetes Metab J
Asahara SI, Inoue H, Ihara Y, Teruyama K, Imai A, Hara C, Hara M, Seike M, Yokoi A, Kido N, Suzuki H, Kanno A, Inaba Y, Watanabe H, Shioi G, Kimura-Koyanagi M, Matsumoto M, Inoue H, Nakayama KI, Ogawa W, Kasuga M, Kido Y.   +21 more
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

Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini, Giulia Tammam, Andra Ezaru, Manuela Gambella, Benoît Sanson, Luisa Villa, Michele Cavalli, Mihai‐Bogdan Ioncea, Angela Puma, Sabrina Sacconi   +9 more
wiley   +1 more source

Statistical methods for gene-environment interaction analysis. [PDF]

Wiley Interdiscip Rev Comput Stat
Miao J, Wu Y, Lu Q.
europepmc   +1 more source

Incident Comorbid Diabetes and Outcomes in Multiple Sclerosis: An English Population‐Based Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To compare the incidence of diabetes mellitus and its associations with hospitalisation and mortality in adults with multiple sclerosis (MS) and matched controls. Methods Using English primary care data from the Clinical Practice Research Datalink, linked to hospital and mortality records, we matched adults with MS with up to 10 ...
Yolanda Lau, Sedigheh Zabihi, Morghan Hartmann, Georgina Mathlin, Sube Banerjee, Ebaa Marouf, Clare Hadley, Claudia Cooper, Ruth Dobson   +8 more
wiley   +1 more source