Results 261 to 270 of about 3,963,364 (363)

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

Design of a 2D Melting Curve–Based Multiplex PCR Assay for Detection of SARS-CoV-2/RSV/Influenza A-B

Canadian Journal of Infectious Diseases and Medical Microbiology
Murat Sayan, Ayse Arikan, Tahaberk Atesoğlu   +2 more
doaj   +1 more source

Evaluation of a Novel Multiplex PCR Assay for Vesicular Viruses. [PDF]

Int J Mol Sci
Sberna G, Valli MB, Colavita F, Brillo F, Rozera G, Minosse C, Maggi F, Lalle E.   +7 more
europepmc   +1 more source

Perfiles PCR de virus y bacterias en secreciones respiratorias como método diagnóstico de neumonía en pediatría [PDF]

J. Canul, Lucía Escobedo Berumen, María Citlalli Casillas Casillas, Horacio Silva Ramírez, Diana Camila Jimenez Arrieta, I Aguilar   +5 more
openalex   +1 more source

Comparing the Effect of Semi‐Immersive Virtual Reality, Computerized Cognitive Training, and Traditional Rehabilitation on Cognitive Function in Multiple Sclerosis: A Randomized Clinical Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...
Maria Grazia Maggio, Desiree Latella, Lilla Bonanno, Paulo Cezar Rocha dos Santos, Marcos Maldonado‐Díaz, Meir Plotnik, Rosaria De Luca, Angelo Quartarone, Rocco Salvatore Calabrò   +8 more
wiley   +1 more source

SuperSelective PCR primers for determining cis/trans configurations of mutations within the same gene. [PDF]

PLoS One
Vargas DY, Kramer FR.
europepmc   +1 more source

The information content of biological material for the study of the urogenital tract in men by real-time PCR (pilot trail)

, 2019
Д. Г. Почерников, М Н Болдырева, Group of companies «DNA-Technology», Yu.G. Vitvitskaya, Group of companies «DNA-Technology», И. С. Галкина, Group of companies «DNA-Technology»   +6 more
openalex   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Prevalence and risk factors of human trichostrongylosis in Satun, southern Thailand. [PDF]

Parasite
Kusolsuk T, Kophachon T, Sa-Nguankiat S, Homsuwan N, Lappuechudom W, Srithongtae S, Wattanawong O, Nawa Y, Sungpradit S.   +8 more
europepmc   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source