Results 161 to 170 of about 576,432 (292)

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

Optical mapping of the interface between iPSC-derived grafts and swine myocardium suggests potential arrhythmia mechanisms. [PDF]

NPJ Regen Med
Guragain B, Zhang H, Wei Y, Ye L, Walcott GP, Rogers JM, Zhang J.   +6 more
europepmc   +1 more source

An improved assembly of the pearl millet reference genome using Oxford Nanopore long reads and optical mapping. [PDF]

G3 (Bethesda), 2023
Salson M, Orjuela J, Mariac C, Zekraouï L, Couderc M, Arribat S, Rodde N, Faye A, Kane NA, Tranchant-Dubreuil C, Vigouroux Y, Berthouly-Salazar C.   +11 more
europepmc   +1 more source

Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein, Maximilian Mönch, Meret Herdick, Frauke Stascheit, Sarah Hoffmann, Hannah Preßler, Philipp Mergenthaler, Carla Dusemund, Paolo Doksani, Haoqi Sun, Pushpa Narayanaswami, Andreas Meisel, Lea Gerischer, Sophie Lehnerer   +13 more
wiley   +1 more source

Protocol for dual-optical mapping of voltage and calcium sensors in human pluripotent stem cell-derived cardiomyocytes. [PDF]

STAR Protoc
Alibhai FJ, Masoumi A, Kim HJ, Kim N, Kim W, Gomez-Garcia J, Lee P, Laflamme MA.   +7 more
europepmc   +1 more source

High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing. [PDF]

Genome Med, 2023
Yilmaz F, Gurusamy U, Mosley TJ, Hallast P, Kim K, Mostovoy Y, Purcell RH, Shaikh TH, Zwick ME, Kwok PY, Lee C, Mulle JG.   +11 more
europepmc   +1 more source

Adult‐Onset Subacute Sclerosing Panencephalitis Presenting With Subacute Cognitive Deficits

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We describe the case of a 41‐year‐old man diagnosed with adult‐onset subacute sclerosing panencephalitis (SSPE). The patient presented with subacute progressive cognitive deficits and a neuropsychological profile indicating predominant frontoparietal dysfunction. MRI showed only mild parietal‐predominant cerebral atrophy.
Dennis Yeow, Nicola McKern, Vincent Oxenham, Kate Ahmad, Omar Ahmad   +4 more
wiley   +1 more source

Upward propagation of gigantic jets revealed by 3D radio and optical mapping. [PDF]

Sci Adv, 2022
Boggs LD, Mach D, Bruning E, Liu N, van der Velde OA, Montanyá J, Cummer S, Palivec K, Chmielewski V, MacGorman D, Peterson M.   +10 more
europepmc   +1 more source

Real‐World Performance of CSF Kappa Free Light Chains in the 2024 McDonald Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Kappa free light chains (KFLCs) in the cerebrospinal fluid (CSF) have a similar performance to CSF‐restricted oligoclonal bands (OCB) for multiple sclerosis (MS) diagnosis. To help with implementation, we set out to resolve several remaining uncertainties: (1) performance in a real‐world cohort and the 2024 McDonald criteria; (2 ...
Maya M. Leibowitz, Ryan Cooper, Stefania Kaninia, Kathryn I. Challis, Will Greenway, Maria Bonello, Mahmoud Elbahnasawi, Deborah T. Shode, Dominika Gajdasik, Victor Iliev, Alison M. E. Whitelegg, Ian Galea   +11 more
wiley   +1 more source

Protocol for high-resolution optical mapping of ex vivo rat heart for electrophysiological studies. [PDF]

STAR Protoc
Sung YL, Tsai YS, Chang CL, Hu YF.
europepmc   +1 more source