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Browsing Category
Neuromuscular Disorders
The Hippo pathway: horizons for innovative treatments of peripheral nerve diseases.
ABSTRACT
Initially identified in Drosophila, the Hippo signaling pathway regulates how cells respond to their environment by controlling proliferation, migration and differentiation. Many recent studies have focused on characterizing Hippo…
A Systematic Review of Late-onset and Very-late-onset Multiple Acyl-coenzyme A Dehydrogenase…
Yih-Chih Kuo, Hsueh-Wen Hsueh, Sung-Ju Hsueh, Ni-Chung Lee, Ming-Ju Hsieh, Chi-Chao Chao, Yin-Hsiu Chien, Pei-Hsin Huang, Chih-Chao Yang
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Multiple acyl-coenzyme A dehydrogenase deficiency (MADD), which is also called glutaric aciduria type II, is a rare autosomal recessive inherited disorder of fatty acid oxidation that is mainly caused by pathogenic variants in ETFA, ETFB,…
Urinary titin as a biomarker in Fukuyama congenital muscular dystrophy
Takatoshi Sato, Hiroyuki Awano, Kumiko Ishiguro, Minobu Shichiji, Terumi Murakami, Taku Shirakawa, Masafumi Matsuo, Satoru Nagata, Keiko Ishigaki
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Fukuyama congenital muscular dystrophy (FCMD) is the second most common childhood-onset muscular dystrophy in Japan . It is an autosomal recessive disorder caused by a mutation in the fukutin (FKTN) gene, and is characterized by muscle…
Corrigendum to “Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne…
Kathryn R. Wagner, Hoda Z. Abdel-Hamid, Jean K. Mah, Craig Campbell, Michela Guglieri, Francesco Muntoni, Yasuhiro Takeshima, Craig M. McDonald, Anna Kostera-Pruszczyk, Peter Karachunski, Russell J. Butterfield, Eugenio Mercuri, Chiara Fiorillo, Enrico S. Bertini, Cuixia Tian, Jeffery Statland, Alesia B. Sadosky, Vivek S. Purohit, Sarah P. Sherlock, Jeffrey P. Palmer, Michael Binks, Lawrence Charnas, Shannon Marraffino, Brenda L. Wong
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This article reported on the results from a phase 2 trial of domagrozumab and its open-label extension in patients with Duchenne muscular dystrophy (Clinicaltrials.gov identifiers: NCT02310763 and NCT02907619). The manuscript also provided…
Electrophysiological investigation of motor axonal excitability in a mouse model of nerve…
Preet G. S. Makker,
Brooke A. Keating,
Justin G. Lees,
David Burke,
James Howells,
Gila Moalem‐Taylor
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Abstract
Background and aims
Peripheral nerve injuries caused by focal constriction are characterised by local nerve ischaemia, axonal degeneration, demyelination and neuroinflammation. The aim of this study was to understand temporal…
Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial…
Niklas Darin, Triinu Siibak, Bradley Peter, Carola Hedberg-Oldfors, Gittan Kollberg, Vassili Kalbin, Ali-Reza Moslemi, Bertil Macao, Anders Oldfors, Maria Falkenberg
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DNA polymerase gamma (POLγ) is a nuclear-encoded protein that replicates mitochondrial DNA (mtDNA). Human POLγ is a heterotrimer comprising the catalytic POLγA subunit and a dimeric POLγB processivity factor . POLγA has 5′-3′ DNA polymerase…
Cutaneous and muscular afferents from the foot and sensory fusion processing: physiology and…
Abstract
The foot‐sole cutaneous receptors (section 2), their function in stance control (sway minimisation, exploratory role) (2.1), and the modulation of their effects by gait pattern and intended behaviour (2.2) are reviewed.…
2020 Peripheral Nerve Society Virtual Event—Continued Abstracts
Journal of the Peripheral Nervous System, EarlyView.
Characterization of Cannabis Use by Patients with Myotonic Dystrophy Type 1: a pilot study
William Beauchesne, Catherine Savard, Marika Côté-Hamel, Émilie Poliquin, Valérie Gagné-Ouellet, Cynthia Gagnon, Karine Tremblay
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Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disease characterized by the presence of progressive muscle weakness and myotonia . Patients also often report pain, fatigue, impaired sleep and diverse functional limitations…
Prevalence of Atrial Fibrillation in Myotonic Dystrophy type 1: a systematic review
Vincenzo Russo, Andrea Antonio Papa, Michele Lioncino, Anna Rago, Francesco Di Fraia, Alberto Palladino, Luisa Politano, Paolo Golino, Gerardo Nigro
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Myotonic dystrophy type 1 (DM1) is the most prevalent inherited neuromuscular disease of adult life, with an estimated incidence of 1:8000 births and a worldwide prevalence that ranges from 2.1 to 14/100000 inhabitants1. Cardiac involvement…