Results 161 to 170 of about 7,946,195 (290)

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

Long-read sequencing for neurological disorders: opportunities, challenges, and future directions. [PDF]

Neurol Sci
Geiger H, Furuta Y, Perera BLA, Stewart R, Tinker RJ, Phillips JA.   +5 more
europepmc   +1 more source

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

Untangling the Copy Number Variation at the Basis of Belted Phenotypes in Cattle Using Long-Read Sequencing. [PDF]

Anim Genet
Hogers RAH, Bosse M, Rattink AP, González-Prendes R, Gòdia M, Laport K, Groenen MAM, Crooijmans RPMA, Bouwman AC.   +8 more
europepmc   +1 more source

Understanding Further the Phenotypic Spectrum of Central Nervous System Inflammatory Demyelinating Disorders Using Unsupervised Clustering

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec, Elif Everest, Melih Tutuncu, Ugur Bilge, Sabahattin Saip, Ugur Uygunoglu, Aksel Siva   +6 more
wiley   +1 more source

Long-Read Sequencing as an Interpretive Layer for Spatial Biology

Spatial transcriptomics has enabled unprecedented localization of gene expression within tissues and environments, but most spatial workflows rely on short-read sequencing that collapses transcript structure and obscures isoform diversity, allelic ...
Ivan Lebedev
core   +3 more sources

Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease. [PDF]

Brain
Akçimen F, Daida K, Lange LM, Moller A, Miano-Burkhardt A, Malik L, Paquette K, Alvarez Jerez P, Mingle J, Baker B, Meredith M, Kouam C, Jarreau P, Markham A, Anderson J, Jain M, Chaisson M, Cookson M, Casey B, Iwaki H, Bandres-Ciga S, Saffie-Awad P, Nalls MA, Fang ZH, Singleton AB, Blauwendraat C, Billingsley KJ.   +26 more
europepmc   +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

Protocol for haplotype-resolved structural variant detection via long-read sequencing using cuteHap. [PDF]

STAR Protoc
Cao S, Wu C, He Y, Jiang T.
europepmc   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source