Results 91 to 100 of about 1,026,979 (255)

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

Detection of Modern Spinal Implants by Handheld Metal Detectors: A Prospective Observational Study. [PDF]

Cureus
Dave BR, Singh A, Rai RR, Krishnan A, Mayi SC, Dave MB, Panthackel M, Vashishtha A, Sagar M, Adodariya Y, Agarawal SS.   +10 more
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

Real-time energy measurement of clinical carbon ion beams using a cross-correlation time-of-flight method with parallel-plate chambers. [PDF]

Med Phys
Kwon NH, Choi SW, Han S, Yun Y, Han MC, Hong CS, Kim HJ, Lee H, Kim C, Kim DW, Koom WS, Kim JS, Carolino N, Lopes L, Kim DW, Fonte PJR.   +15 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

Light people: Professor Mengkun Liu. [PDF]

Light Sci Appl
Zheng W, Guo S.
europepmc   +1 more source

A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento, Daniela F. Santos, Tuane C. R. G. Vieira, Tiago F. Outeiro   +3 more
wiley   +1 more source

Single-event fast neutron time-of-flight spectrometry with a petawatt-laser-driven neutron source. [PDF]

Nat Commun
Millán-Callado MA, Scheuren S, Alejo A, Benlliure J, Beyer R, Cowan TE, Fernández B, Griesmayer E, Junghans AR, Kohl J, Kroll F, Metzkes-Ng J, Prencipe I, Quesada JM, Rehwald M, Rödel C, Rodríguez-González T, Schramm U, Roth M, Štefaníková R, Urlass S, Weiss C, Zeil K, Ziegler T, Guerrero C.   +24 more
europepmc   +1 more source

Dimethyl Fumarate, But Not Rituximab, Reduces Serum GFAP Levels and PIRMA in Relapsing–Remitting MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Serum neurofilament light chain (sNfL) and glial fibrillary acidic protein (sGFAP) levels are believed to reflect mainly acute and chronic disease processes in multiple sclerosis (MS), respectively. In this study, we investigated whether dimethyl fumarate (DMF) and rituximab (RTX) differentially affect these biomarkers.
F. Shawket, J. Lycke, J. Salzer, F. Piehl, K. Fink, N. Lange, J. Mellergård, C. Malmeström, P. Sundström, I. Erngren, A. al‐Grety, E. Freyhult, K. Kultima, J. Burman, A. Svenningsson   +14 more
wiley   +1 more source

InAlN/GaN Detectors for Real-Time Dosimetry in Ultra-High Dose Rate FLASH Radiotherapy. [PDF]

IEEE Sens Lett
Choi SY, Anderson C, Dai K, Fratelli I, Liu YC, Ballentine P, Tan Y, Bardash M, Garty G, Harken A, Kymissis I, Eisner S.   +11 more
europepmc   +1 more source