Results 201 to 210 of about 864,768 (299)

Prognostic Implications of Sleep Architecture for Patients Admitted to the Intensive Care Unit With Status Epilepticus

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Status epilepticus (SE) is associated with significant mortality. Sleep architecture may reflect normal brain function. Impaired sleep architecture is associated with poorer outcomes in numerous conditions. Here we investigate the association of sleep architecture in continuous EEG (cEEG) with survival in SE.
Ran R. Liu, Marcus C. Ng, Gavin P. Winston, Sabrina Schaly, Garima Shukla, Lysa Boissé Lomax   +5 more
wiley   +1 more source

Molecular residual disease assessment in colorectal and bladder cancer by somatic structural variant analysis of cell-free DNA whole-genome sequencing data. [PDF]

J Transl Med
Sørensen EE, Frydendahl A, Rasmussen MH, Nordentoft I, Knudsen M, Henriksen TV, Lindskrog SV, Dyrskjøt L, Andersen CL, Bramsen JB.   +9 more
europepmc   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Pooled, Long-read Sequencing for Structural Variant Characterization in Schistosome Populations. [PDF]

Genome Biol Evol
Nair S, Li X, Anderson TJC, Platt RN.
europepmc   +1 more source

Clinical Spectrum and Outcomes of SOX1 Antibody‐Associated Paraneoplastic Neurological Syndromes: A Chinese Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye, Zu‐Ying Kuang, Bo Li, Meng‐Qiu Pan, Li‐Hua Zhou, Yang‐Yang Dai, Si‐Fen Xie, Xian‐Guang Lin, Ye‐Peng Hu, Li‐Hong Jiang, Zhan‐Hang Wang, Wei‐Jing Zhang   +11 more
wiley   +1 more source

A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies. [PDF]

Biomedicines
Nardone GG, Andrioletti V, Santin A, Morgan A, Spedicati B, Concas MP, Gasparini P, Girotto G, Limongelli I.   +8 more
europepmc   +1 more source

Brainstem and Cerebellar Volume Loss and Associated Clinical Features in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel, Timothy P. Siejka, Cassandra Marotta, Josh J. Y. Lee, Kelly Bertram, Terence J. O'Brien, Meng Law, Lucy Vivash, Ian H. Harding   +8 more
wiley   +1 more source

Blackbird: structural variant detection using synthetic and low-coverage long-reads. [PDF]

Bioinform Adv
Meleshko D, Yang R, Maharjan S, Danko DC, Korobeynikov A, Hajirasouliha I.   +5 more
europepmc   +1 more source

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source

Accurate, Scalable Structural Variant Genotyping in Complex Genomes at Population Scales. [PDF]

Mol Biol Evol
Hu M, Wan P, Chen C, Tang S, Chen J, Wang L, Chakraborty M, Zhou Y, Chen J, Gaut BS, Emerson JJ, Liao Y.   +11 more
europepmc   +1 more source