Results 251 to 260 of about 3,896,599 (361)

Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology

Movement Disorders, EarlyView.
Abstract Background Therapeutic interventions in Friedreich's ataxia (FRDA) are progressing into clinical trials, and the need for robust and easily accessible biomarkers has arisen. Objective This study aimed to consolidate preliminary findings of changes in the levels of neurofilament light (NfL), glial fibrillary acidic protein (GFAP), Tau, and ...
Christian Rummey, Gilbert Thomas‐Black, Hector Garcia‐Moreno, David R. Lynch, Rosella Abeti, Huseyin Arisoy, Amanda Heslegrave, Henrik Zetterberg, Paola Giunti, the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)   +9 more
wiley   +1 more source

Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis

Movement Disorders, EarlyView.
Abstract Background Very long chain fatty acids (VLCFAs) are an integral component of myelin and the epidermal water barrier. Variants in genes encoding enzymes responsible for catalyzing the first and rate limiting step in the production of VLCFAs, elongation of VLCFAs (ELOVLs), underlie a novel group of metabolic disorders. Objectives The goal was to
Keit Men Wong, Reza Maroofian, Kolja Meier, Susann Diegmann, Tinatin Tkemaladze, Javeria Raza Alvi, Behnoosh Tasharrofi, Stephanie Efthymiou, Alexander Munchau, G. Christoph Korenke, Naif Almontashiri, Wafaa Eyaid, Amna Kashgari, Modhi Alotaibi, Jutta Gärtner, Brenda Huppke, Mostafa Asadollahi, Gocha Chikvinidze, Mohammad Keramatipour, Tipu Sultan, Holger Thiele, Peter Nürnberg, Markus H. Gräler, Henry Houlden, Peter Huppke   +24 more
wiley   +1 more source

Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Biallelic loss‐of‐function variants in PI4K2A have been associated with a neurodevelopmental disorder characterized by seizures and movement disorders, including orofacial dyskinesia. However, only 4 cases have been reported. Orolingual dyskinesia—defined as involuntary movements of the mouth and tongue—is observed in various ...
Reza Maroofian, Juan Darío Ortigoza‐Escobar, Pooja Rohilla, Javeria Raza Alvi, Aziza M. Mushiba, Naif A.M. Almontashiri, Stephanie Efthymiou, Tipu Sultan, Tamas Balla, Henry Houlden   +9 more
wiley   +1 more source

Multi‐Frequency Electrical Impedance Myography as a Predictor of Muscle Function in Older Adults

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims This study examined the potential of multi‐frequency electrical impedance myography (EIM) to predict hand grip strength (HGS) variability among adults, including a large proportion of older adults, with and without sarcopenia.
Niladri Kumar Mahato, Buket Sonbas Cobb, Seward B. Rutkove, W. David Arnold, Brian C. Clark   +4 more
wiley   +1 more source

Monitoring of neuromuscular block

Continuing Education in Anaesthesia Critical Care & Pain, 2006
Jennifer M Hunter, Conor D McGrath
openaire   +2 more sources

MGBase: A Global, Observational Registry for Collaborative Research in Myasthenia Gravis

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Patient registries are valuable tools for outcomes research in rare diseases such as myasthenia gravis (MG). Existing MG registries are limited by factors including a lack of geographical scope. MGBase has been designed as a global, observational registry aimed at studying clinical practice outcomes in MG.
Katherine A. Buzzard, Anneke Van der Walt, Helmut Butzkueven, Wen Wen Zhang, Carolina Barnett‐Tapia, Gary Cutter, Jeannine M. Heckmann, Pamela Farr, Carolyn Tran, Charlotte Sartori, Dusko Stupar, Rein More, Linda Sim, Alison Le, Qingxiao Tang, Stephen W. Reddel, the MGBase Study Group, Stefan Blum, Gabvor Lovas, Pamela McCombe, Elisabeth Chroni, Belinda Cruse, Raed Alroughani, John Tzartos, Enrique Gomex‐Figueroa, Cavit Boz, Guntis Karelis, Allan Kermode, Nicholas Crump   +28 more
wiley   +1 more source

Neuromuscular monitoring should be required when neuromuscular blocking drugs are used: Is it time to change the Canadian guidelines?

Canadian Journal of Anesthesia/Journal canadien d'anesthésie, 2016
R. Hudson
semanticscholar   +1 more source

Motor Unit Number Index (MUNIX) in Control Children: Reference Values and Reliability

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims The motor unit number index (MUNIX) is recognized as a reliable electrophysiological biomarker, and reference values are available for healthy adults but not for children. The aim of this study was to determine reference MUNIX values in healthy children.
Christophe Boulay, Emilien Delmont, Frédérique Audic, Cécile Halbert, Sébastien Pesenti, Brigitte Chabrol, Béatrice Desnous, Shahram Attarian   +7 more
wiley   +1 more source

Monitoring of Neuromuscular Junction.

Indian Journal of Anaesthesia, 2002
D Padmaja, Srinivas Mantha
doaj  

Clinical Utility of Far‐Field Potentials in Amyotrophic Lateral Sclerosis

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Far field potentials (FFP) have been proposed as a reliable neurophysiological prognostic biomarker in amyotrophic lateral sclerosis (ALS). This study evaluates the diagnostic utility of ulnar nerve FFP in ALS. Methods Comprehensive peripheral neurophysiological assessments were conducted in 62 ALS and 43 ALS‐mimicking ...
Aicee Dawn Calma, Nathan Pavey, Claudia Santos Silva, Yukiko Tsuji, Mehdi A. J. Van den Bos, Michelle A. Farrar, Parvathi Menon, Steve Vucic   +7 more
wiley   +1 more source