Results 171 to 180 of about 7,946,195 (290)

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis. [PDF]

Mol Genet Genomic Med
Nakamura N, Nishio Y, Nyuzuki H, Fukushima A, Miura M, Kobayashi Y, Ishioka R, Tsukada K, Oka Y, Tsujikawa K, Morinaga H, Inaba M, Tohyama J, Nakazawa Y, Ikeuchi T, Ono T, Saitoh S, Ogi T.   +17 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

Long-read sequencing for cancer liquid biopsy: advancing precision oncology. [PDF]

Front Oncol
Guzman G, Rodriguez A.
europepmc   +1 more source

Peripheral Neutrophil Activation and Extracellular Trap Formation in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
Markers of neutrophil activation are increased in plasma during ALS, and markers of NET formation associate with ALS survival. ABSTRACT Objectives Peripheral neutrophil levels in amyotrophic lateral sclerosis (ALS) inversely correlate with survival, suggesting a role for neutrophils in disease progression.
Lillia A. Baird, Haley McQuown, Jihyun Park, Samuel J. Teener, Ian F. Webber‐Davis, Andrew D. Carter, Dae‐Gyu Jang, Eva L. Feldman, Stephen A. Goutman, Benjamin J. Murdock   +9 more
wiley   +1 more source

Long-read sequencing reveals widespread novel splicing and neojunction-derived neoantigens in nasopharyngeal carcinoma. [PDF]

Genome Res
Shuai Y, Yao H, Wang B, Chung GTY, Wang X, Zhong M, Zhu Z, Li CS, Tsang CM, Lo KW, Wang X.   +10 more
europepmc   +1 more source

Subclinical Optic Nerve Involvement in Radiologically Isolated Syndrome: Multimodal Detection and Diagnostic Impact

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay, Cassandre Landes‐Château, Lydiane Mondot, Mikael Cohen, Margherita Popolo, Jérôme de Seze, Bertrand Bourre, Françoise Durand‐Dubief, Olivier Casez, Orhun H. Kantarci, Aksel Siva, Stephanie Baillif, Darin T. Okuda, Letizia Leocani   +13 more
wiley   +1 more source

Clinical application of long-read sequencing in newborn genetic screening for congenital adrenal hyperplasia. [PDF]

Front Genet
Zhao P, Qiu X, Lin Q, Huang T, Zeng Y, Zhou J, Xu L.   +6 more
europepmc   +1 more source

Human Pegivirus Encephalitis With Brain Detection and Response to Sofosbuvir Ledipasvir

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Human pegivirus (HPgV‐1) has been associated with severe encephalomyelitis in immunocompromised patients. Its neurological spectrum remains poorly defined. We report a slowly progressive encephalitis in a person living with well‐controlled HIV, characterized by white matter abnormalities and inflammatory cerebrospinal fluid (CSF). HPgV RNA was
Antoine Moulignier, Françoise Heran, Francis Lallemand, Pierre Bourdillon   +3 more
wiley   +1 more source

Molecular diagnostic platforms for mitochondrial diseases by conventional and long-read sequencing: Missing pieces. [PDF]

Biomed J
Poon KS, Tan KM, Abdul Murad NA.
europepmc   +1 more source

Blood RNA Biomarker Signatures for Early Diagnosis and Prognosis in Ischemic and Hemorrhagic Stroke: The IBIS‐CT1 Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the expression of nine blood RNA biomarkers in a clinical trial based on genes previously identified in an experimental monkey model of stroke for diagnosis feasibility and prognostication. Methods IBIS‐CT1 was a prospective longitudinal study enrolling patients with ischemic stroke (IS) or intracerebral hemorrhage (ICH ...
Salomé Retailleau, Marie Bruguet, Irina Viakhireva‐Dovganyuk, François‐Mathias Merrien, Denis Marechal, Aurore Jourdain, Philippe Goas, Jordan Coris, Julien Asselineau, Maëlys Consigny, Gérald Le Gac, Serge Timsit   +11 more
wiley   +1 more source