Results 181 to 190 of about 5,590,230 (287)

Ofatumumab Therapy and Long‐Term Seizure Outcomes of Patients With Relapsing Anti‐NMDA Receptor Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There is a lack of studies on seizure outcomes associated with ofatumumab therapy in patients for relapsing anti‐N‐methyl‐D‐aspartate (NMDA) receptor encephalitis. We aimed to evaluate long‐term seizure outcomes of ofatumumab therapy for relapsing anti‐NMDA receptor encephalitis.
Jian Wang, Mengjiao Li, Ping Kong
wiley   +1 more source

Joint processing of long- and short-read sequencing data with deep learning improves variant calling. [PDF]

Cell Rep Methods
Gambardella G.
europepmc   +2 more sources

gplasCC: classification and recovery of plasmids from short-read sequencing data for any bacterial species. [PDF]

NAR Genom Bioinform
Paganini JA, Kerkvliet JJ, Jordan O, Teunis G, Plantinga NL, Meneses R, Willems RJL, Arredondo-Alonso S, Schürch AC.   +8 more
europepmc   +1 more source

Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategies. [PDF]

Mol Genet Genomic Med, 2023
McClinton B, Crinnion LA, McKibbin M, Mukherjee R, Poulter JA, Smith CEL, Ali M, Watson CM, Inglehearn CF, Toomes C.   +9 more
europepmc   +1 more source

Diffusion Basis Spectrum Imaging of Tissue Microstructure and Early Treatment in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Conventional MRI cannot resolve the coexisting pathological processes within multiple sclerosis tissue. Diffusion Basis Spectrum Imaging decomposes the diffusion signal into fiber, cell, and hindered ratios indexing axonal integrity, cellularity, and extracellular space, respectively.
Apisit Kaewsanit, Aime Luna, Bradley Judge, Nicole Shelley, Karl Friedrichsen, Jayashree Rajamanickam, Zhude Tu, Yong Wang, Tammie L. S. Benzinger, Qing Wang, Matthew R. Brier   +10 more
wiley   +1 more source

Detection and evaluation of copy number variation using both linked-read and short-read sequencing in New Zealand dairy cattle. [PDF]

Front Genet
Wang Y, Nugroho T, Johnson TJJ, Couldrey C, Harris BL.   +4 more
europepmc   +1 more source

eXNVerify: coverage analysis for long and short-read sequencing data in clinical context. [PDF]

F1000Res, 2022
Porębski S, Stokowy T.
europepmc   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Benchmarking the empirical accuracy of short-read sequencing across the M. tuberculosis genome. [PDF]

Bioinformatics, 2022
Marin M, Vargas R, Harris M, Jeffrey B, Epperson LE, Durbin D, Strong M, Salfinger M, Iqbal Z, Akhundova I, Vashakidze S, Crudu V, Rosenthal A, Farhat MR.   +13 more
europepmc   +1 more source

The Association of Amyloid‐β and Tau With Synaptic Dysfunction in Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To clarify the relative contributions of amyloid and tau to synaptic dysfunction in Alzheimer's disease (AD). Methods We included 109 cognitively unimpaired and impaired individuals from the Geneva Memory Center with available CSF synaptic biomarkers (neurogranin, SNAP‐25, GAP‐43). Participants were stratified according to amyloid (A)
Fausto Roveta, Augusto J. Mendes, Valentina Garibotto, Cecilia Boccalini, Aurelien Lathuiliere, Innocenzo Rainero, Elisa Rubino, Henrik Zetterberg, Nicholas J. Ashton, Federica Ribaldi, Giovanni B. Frisoni, for the Alzheimer's Disease Neuroimaging Initiative   +11 more
wiley   +1 more source