Results 41 to 50 of about 16,644 (257)

Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family

Frontiers in Genetics, 2023
Myotonia congenita (MC) is a rare neuromuscular disease caused by mutations within the CLCN1 gene encoding skeletal muscle chloride channels. MC is characterized by delayed muscle relaxation during contraction, resulting in muscle stiffness.
Nurul Huda Musa, Nurul Huda Musa, Karuppiah Thilakavathy, Karuppiah Thilakavathy, Nur Afiqah Mohamad, Nur Afiqah Mohamad, Marina L. Kennerson, Marina L. Kennerson, Liyana Najwa Inche Mat, Wei Chao Loh, Anna Misyail Abdul Rashid, Janudin Baharin, Azliza Ibrahim, Wan Aliaa Wan Sulaiman, Fan Kee Hoo, Hamidon Basri, Abdul Hanif Khan Yusof Khan   +16 more
doaj   +1 more source

Temporal discrimination: Mechanisms and relevance to adult-onset dystonia [PDF]

, 2017
Temporal discrimination is the ability to determine that two sequential sensory stimuli are separated in time. For any individual, the temporal discrimination threshold (TDT) is the minimum interval at which paired sequential stimuli are perceived as ...
Beck, Rebecca, Conte, Antonella, Hutchinson, Michael, Killian, Owen, Mcgovern, Eavan M., Narasimham, Shruti, O'Riordan, Sean, Reilly, Richard B.   +7 more
core   +1 more source

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

Reciprocal Inhibition Post-stroke is Related to Reflex Excitability and Movement Ability [PDF]

, 2012
Objective Decreased reciprocal inhibition (RI) of motor neurons may contribute to spasticity after stroke. However, decreased RI is not a uniform observation among stroke survivors, suggesting that this spinal circuit may be influenced by other stroke ...
Ashworth, Bohannon, Capaday, Cramp, Crone, Crone, Crone, Crone, Crone, Crone, DeMyer, Fugl-Meyer, Hultborn, Jankowska, Kido, Kido, Lance, Mizuno, Neha Bhagchandani, Nielsen, Okuma, Petersen, Schindler-Ivens, Sheila Schindler-Ivens, Tanaka, Yanagisawa   +25 more
core   +2 more sources

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

Training load and injury incidence over one season in adolescent Arab table tennis players : a pilot study [PDF]

, 2019
Background: It has been established that injury incidence data and training load in table tennis is somewhat limited. Objectives: The purpose of this study was to analyze and report training load and injury incidence.
Cardinale, Marco, Pullinger, Samuel Andrew, Rejeb, Abdallah, Varamenti, Evdokia   +3 more
core   +1 more source

Meta‐Rod Mechanical Metamaterials With Programmable Reconfiguration

Advanced Functional Materials, EarlyView.
Existing mechanical metamaterials achieve programmable large deformations in planar square or cubic configurations, restricted by required complex boundary conditions. This research proposes a 1D metamaterial, Meta‐rod, with linear, bending, twisting, area, and volume deformation modes.
Atharva Pande, Lyes Kadem, Hang Xu
wiley   +1 more source

Multi‐Scale Interface Engineering of MXenes for Multifunctional Sensory Systems

Advanced Functional Materials, EarlyView.
MXenes, as two‐dimensional transition metal carbides and nitrides, demonstrate remarkable capabilities for multifunctional sensing applications. This review systematically examines multi‐scale interface engineering approaches that enhance sensing performance, enable diverse detection functionalities, and improve system‐level compatibility in MXene ...
Jiaying Liao, Sin‐Yi Pang, Jianhua Hao
wiley   +1 more source

The likely effects of thermal climate change on vertebrate skeletal muscle mechanics with possible consequences for animal movement and behaviour [PDF]

, 2019
Climate change can involve alteration in the local temperature that an animal is exposed to, which in turn may affect skeletal muscle temperature.
Abrahams, Allan, Allen, Altringham, Altringham, Angilletta, Angilletta, Barany, Beever, Bennett, Bennett, Bennett, Berchtold, Bernal, Bershitsky, Brenner, Caiozzo, Chown, Colombini, Cotton, Coughlin, Coupland, Crowley, De Ruiter, Debold, Decostre, Donley, Donley, Edwards, Evans, Ferguson, Fitts, Gabriel, Glanville, Herrel, Herrel, Hertz, Higham, Hill, Hochachka, Hou, Hudson, Huey, Husak, IPCC, James, James, James, James, John-Alder, Johnson, Johnson, Johnston, Johnston, Jones, Josephson, Lailvaux, Le Roy, Mantle, Marsh, Mautz, Michelangeli, Miles, Niehaus, Nocella, Olberding, Perry, Pinder, Place, Rall, Ranatunga, Ranatunga, Ranatunga, Rand, Reilly, Rome, Roots, Rummel, Seebacher, Seebacher, Seebacher, Seebacher, Seebacher, Seebacher, Segal, Segre, Shuman, Somero, Stein, Storey, Swoap, Syme, Symonds, Vanhooydonck, Watkins, West, Wilson, Wilson, Wilson, Wilson, Wilson   +100 more
core   +1 more source

Decellularized Extracellular Matrix (dECM) in Tendon Regeneration: A Comprehensive Review

Advanced Healthcare Materials, EarlyView.
Decellularized Extracellular Matrix (dECM) offers a promising solution by replicating the native tendon microenvironment and promoting regeneration. This review highlights advances in the decellularization methods, as well as their integration with emerging technologies and translational progress in tendon tissue engineering.
Kumaresan Sakthiabirami, Yeonwoo Park, Seong Kyeong Jo, Min Hee Kim, Jae Hwang Song   +4 more
wiley   +1 more source