Results 221 to 230 of about 851,546 (305)

Distinct metabolic signatures of Alzheimer's and Parkinson's disease revealed through genetic overlap. [PDF]

EBioMedicine
Stinson SE, Shadrin AA, Rahman Z, Rødevand L, Broce IJ, Selbæk G, Stefansson H, Haavik J, Parker N, Koch E, Frei O, O'Connell KS, Smeland OB, Djurovic S, Dale AM, van der Meer D, Andreassen OA.   +16 more
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

Research progress in the role and mechanism of GALNT3 in human diseases (Review). [PDF]

Biomed Rep
Su L, Lin Y, Hu X, Liu Z.
europepmc   +1 more source

GAD65 Antibody ELISA With Extended Reportable Range: Validation and Guidance for Neurological Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon, Dana Olofson, Diana Anissian, Divyanshu Dubey, Eoin P. Flanagan, Max C. Herman, Sarosh R. Irani, Daniel H. Lachance, Maria A. Willrich, Sean Pittock, John R. Mills, Anastasia Zekeridou   +11 more
wiley   +1 more source

Genetic insights: proband- only exome sequencing in pediatric neurological disorders. [PDF]

J Community Genet
Uppal K, Kaushik H, Gupta MB, Polipalli SK, Kumar S, Kapoor S.   +5 more
europepmc   +1 more source

Reclassification of Hypophosphatemic Bone Disease as X-Linked Hypophosphatemia Following Genetic Testing in Adulthood

AACE Endocrinology and Diabetes
Loay Kamel, Abdullah Hussain, Ahmed Elmewafy, Dalal S. Ali, Aliya A. Khan   +4 more
openaire   +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

The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype-Phenotype Correlations. [PDF]

Int J Mol Sci
Butnariu LI, Russu R, Babici RG, Băgiag A, Trandafir LM, Țarcă E, Popovici P, Gimiga N, Starcea IM.   +8 more
europepmc   +1 more source

Ethical, Legal, and Social Issues in Genetic Testing for Complex Genetic Diseases [PDF]

, 2011
Andrews, Lori, Zuiker, Erin Shaugnessy
core   +2 more sources

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source