Results 111 to 120 of about 4,093,745 (349)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Fixel‐Based Analysis of Diffusion Imaging as a Quantitative Marker of Disease State in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCAs) are a group of genetically heterogeneous neurodegenerative diseases causing progressive deterioration and reduced quality of life. Therapeutic advances have been limited by a lack of sensitive anatomic, functional, or diffusion imaging‐based biomarkers.
David J. Arpin, S. H. Subramony, the READISCA Consortium, David E. Vaillancourt, Tetsuo Ashizawa, Alexandra Durr, Thomas Mareci, Thomas Klockgether, Jennifer Faber, Henry L. Paulson, Gülin Öz, Matthew R. Burns   +11 more
wiley   +1 more source

Identification of Dementia With Lewy Bodies by Skin Biopsy in Recent‐Onset Cognitive Impairment

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Immunofluorescence for phosphorylated alpha‐synuclein in skin biopsy samples is an emerging biomarker in synucleinopathies comprising Dementia with Lewy bodies. In this pilot study, 19 patients with recent‐onset (≤ 18 months) cognitive impairment underwent skin biopsy at baseline, with follow‐up clinical re‐evaluation.
Alessandro Furia, Alex Incensi, Cecilia Delprete, Giovanni Rizzo, Salvatore Bonvegna, Marco Piatti, Enrica Olivola, Francesco Ventruto, Veria Vacchiano, Enrico Fileccia, Roberto Cilia, Nicola Modugno, Rocco Liguori, Vincenzo Donadio   +13 more
wiley   +1 more source

Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Chris Dupont, Adam Deardorff, Murad Nawaz, Andrew A. Voss, Mark M. Rich   +4 more
wiley   +1 more source

Interfacial Performance of Carbon Fiber Reinforced Bismaleimide Composites with Different Sizing Agents Under High Temperature and Humidity Condition

Medžiagotyra
This study addresses the crucial need to understand the interfacial behavior of GQ4522 carbon fiber reinforced bismaleimide (BMI) resin under conditions of high temperature and humidity, with a particular focus on the role of sizing agents.
Quansheng MA, Zongjie CONG, Xiaoguang LIU   +2 more
doaj   +1 more source

Lateral Stress Sensor Based on an In-Fiber Mach–Zehnder Interferometer and Fourier Analysis

IEEE Photonics Journal, 2016
A novel lateral stress sensor based on a compact in-fiber Mach–Zehnder interferometer (MZI) and Fourier analysis is proposed and demonstrated. The in-fiber MZI is formed by cascading two offset splicing joints.
Xiujuan Yu, Dan Bu, Xuefeng Chen, Jintao Zhang, Shengchun Liu   +4 more
doaj   +1 more source

A Test Resonator for Kagome Hollow-Core Photonic Crystal Fibers for Resonant Rotation Sensing

, 2016
We build ring resonators to assess the potentialities of Kagome Hollow-Core Photonic Crystal Fibers for future applications to resonant rotation sensing.
Baz, Assaad, Benabid, Fetah, Bretenaker, Fabien, Debord, Benoît, Feugnet, Gilles, Fsaifes, Ihsan, Gérôme, Frédéric, Humbert, Georges, Ravaille, Alexia, Schwartz, Sylvain   +9 more
core   +1 more source

Multimodal Autonomic Biomarkers Predict Phenoconversion in Pure Autonomic Failure

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Pure autonomic failure (PAF) presents with autonomic failure without other neurological features. A third develop central neurological features, fulfilling criteria for multiple system atrophy (MSA) and Lewy body diseases (LBD), including Parkinson's disease and Dementia with Lewy bodies.
S. Koay, E. Vichayanrat, F. Bremner, F. Valerio, R. Mackenzie, G. Chiaro, G. Ingle, P. McNamara, L. Watson, J. N. Panicker, M. P. Lunn, C. Mathias, V. Iodice   +12 more
wiley   +1 more source

Fiber glass reinforced structural materials for aerospace application [PDF]

, 1968
Evaluation of fiber glass reinforced plastic materials concludes that fiber glass construction is lighter than aluminum alloy construction.
Bartlett, D. H.
core   +1 more source

Health benefits of dietary fiber.

Nutrition reviews, 2009
Dietary fiber intake provides many health benefits. However, average fiber intakes for US children and adults are less than half of the recommended levels.
James W. Anderson, P. Baird, R. Davis, S. Ferreri, M. Knudtson, Ashraf Koraym, V. Waters, Christine L. Williams   +7 more
semanticscholar   +1 more source