Results 71 to 80 of about 2,165 (235)

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

Consequences of quantum noise control for the relaxation resonance frequency and phase noise in heterogeneous Silicon/III–V lasers

Scientific Reports, 2022
We have recently introduced a new semiconductor laser design which is based on an extreme, 99%, reduction of the laser mode absorption losses. In previous reports, we showed that this was achieved by a laser mode design which confines the great majority ...
Dongwan Kim, Mark Harfouche, Huolei Wang, Christos T. Santis, Yaakov Vilenchik, Naresh Satyan, George Rakuljic, Amnon Yariv   +7 more
doaj   +1 more source

Ofatumumab in Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease: A Comparison With Rituximab

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the efficacy and safety of ofatumumab in patients with myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), and compare it with rituximab. Methods We conducted a single–center, observational study including 22 MOGAD patients treated with ofatumumab and 21 treated with rituximab.
Yuxin Fan, Lei Zhou, Jingzi ZhangBao, Hongmei Tan, Zhouzhou Wang, Chao Quan   +5 more
wiley   +1 more source

Soft molecularly imprinted nanoparticles with simultaneous lossy mode and surface plasmon multi-resonances for femtomolar sensing of serum transferrin protein

Scientific Reports, 2023
The simultaneous interrogation of both lossy mode (LMR) and surface plasmon (SPR) resonances was herein exploited for the first time to devise a sensor in combination with soft molecularly imprinting of nanoparticles (nanoMIPs), specifically entailed of ...
Francesco Arcadio, Laurent Noël, Domenico Del Prete, Devid Maniglio, Mimimorena Seggio, Olivier Soppera, Nunzio Cennamo, Alessandra Maria Bossi, Luigi Zeni   +8 more
doaj   +1 more source

Lossy Mode Resonance-based Aptasensor for CRP Detection

Procedia Technology, 2017
Abstract In this work, a CRP detection by Aptasensor based on LMR is presented. A thin film of Tin Dioxide (SnO2) has been used as LMR generator, and the CRP Aptamer has blind onto the optical fiber to perform the measures.
P. Sanchez, P. Zubiate, F.J. Munoz, F.J. Arregui, I.R. Matias, C.R. Zamarreño   +5 more
openaire   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Optical Fiber Exhaled Breath Sensor Based on Lossy Mode Resonance Using a Graphene Oxide Sensitive Coating

Proceedings, 2017
Optical fiber sensors (OFS) have attracted increasing attention due to their benefits over [...]
Pedro Sanchez, Miguel Hernaez, Carlos Ruiz Zamarreño, Francisco Javier Arregui, Andrew G. Mayes, Sonia Melendi-Espina   +5 more
doaj   +1 more source

Sex‐Stratified Association of Regional Dopamine Transporter Binding With Disease Progression in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To clarify the clinical relevance of dopamine transporter single‐photon emission computed tomography (DAT‐SPECT) abnormalities in amyotrophic lateral sclerosis (ALS), with a prespecified focus on sex‐stratified associations with disease progression and short‐term prognosis.
Tomoya Kawazoe, Keizo Sugaya, Kentaro Hayashi, Keiko Hino, Yasuhiro Nakata, Kota Bokuda, Toshio Shimizu, Kazushi Takahashi   +7 more
wiley   +1 more source

A review on lossy mode resonance-based sensors: Fundamentals and applications

Sensors and Actuators B: Chemical
Lossy mode resonance (LMR) sensors have garnered significant attention over the past 20 years due to their high sensitivity, broad applicability, and multiparameter detection capability. This review systematically summarizes progress in theoretical models, experimental validations, and applications during this period.
Ignacio Del Villar, Jose J. Imas, Ignacio R. Matias   +2 more
openaire   +3 more sources

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