Results 41 to 50 of about 1,270,049 (189)

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1‐Related Disease

Movement Disorders, EarlyView.
Abstract Background Cerebellar ataxia, neuropathy and vestibular are flexia syndrome (CANVAS) and RFC1‐related disease are most commonly caused by biallelic AAGGG repeat expansions in RFC1. The high population frequency of this expansion compared to the frequency of CANVAS suggests incomplete penetrance.
Xuemin Wang, Liam G. Fearnley, Kayli C. Davies, Penny Snell, Stuart Lee, Victoria E. Jackson, Justin Read, Michael Milton, Ian H. Harding, Martin B. Delatycki, David J. Szmulewicz, Paul J. Lockhart, Melanie Bahlo, Haloom Rafehi   +13 more
wiley   +1 more source

Muscle Ultrasound Shear Wave Elastography as a Non-Invasive Biomarker in Myotonia

Diagnostics, 2021
Myotonia, i.e., delayed muscle relaxation in certain hereditary muscle disorders, can be assessed quantitatively using different techniques ranging from force measurements to electrodiagnostics.
Cornelius Kronlage, Alexander Grimm, Alyssa Romano, Jan-Hendrik Stahl, Pascal Martin, Natalie Winter, Justus Marquetand   +6 more
doaj   +1 more source

Navigating the Complexity: A Comprehensive Review of GSK‐3 Inhibition in Regenerative Medicine

Medicinal Research Reviews, EarlyView.
ABSTRACT Glycogen synthase kinase‐3 (GSK‐3) is a central regulator of numerous cellular signaling pathways, with critical roles in metabolism, proliferation, differentiation, and tissue regeneration. This review explores the multifaceted effects of pharmacological GSK‐3 inhibition across multiple body districts, focusing on its highly context‐dependent
Davide Schiroli, Alessia Merra, Chiara Marraccini, Lucia Merolle, Graziella Pellegrini, Eleonora Maurizi   +5 more
wiley   +1 more source

Are Neuromuscular Disorders That Cause Fatigue a Contraindication to Sports Participation? A Case Report and Narrative Review of the Literature

Applied Sciences
Engaging in sports, particularly at a competitive level, requires sustained muscle contractions before the onset of physical fatigue. Fatigue is highly prevalent in neuromuscular diseases, especially those affecting neuromuscular transmission (e.g ...
Marianna Papadopoulou, Maria Ioanna Stefanou, Dimitrios Stasinopoulos, Vasiliki Zouvelou, George Papadimas, Christos Moschovos, Pinelopi Vlotinou, Elisabeth Chroni, Georgios Tsivgoulis   +8 more
doaj   +1 more source

Whole Body Phase Angle as a Promising Marker of Disease Severity in Facioscapulohumeral Muscular Dystrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims To investigate its potential role as a marker of disease severity in facioscapulohumeral dystrophy (FSHD), this study examined the association between whole‐body phase angle (PhA) and clinically assessed severity in FSHD patients.
Oscar Crisafulli, Renato Baptista, Andi Nuredini, Matteo Fortunati, Luca Grattarola, Rossella Tupler, Anna Odone, Giuseppe D'Antona   +7 more
wiley   +1 more source

Transcriptionally correlated subcellular dynamics of MBNL1 during lens development and their implication for the molecular pathology of myotonic dystrophy type 1 [PDF]

, 2014
This work is supported by the Scottish Universities Life Science Alliance (SULSA) and the Biotechnology and Biological Sciences Research Council (BBSRC) via a Ph.D.
Coleman, Stewart, Sleeman, Judith E., Coleman, Stewart M., Prescott, Alan R., Sleeman, Judith Elizabeth, Prescott, Alan R.; id_orcid   +5 more
core   +1 more source

Anesthetic Considerations in a Patient with Myotonic Dystrophy for Hip Labral Repair

Case Reports in Anesthesiology, 2017
Myotonic Dystrophy (DM) affects multiple organ systems. Disorders such as hyperthyroidism, progressive musculoskeletal weakness, cardiac dysrhythmias, hypoventilation, and cognitive-behavioral disorders may be present in these patients.
Ramon Go, David Wang, Danielle Ludwin
doaj   +1 more source

A Sedation Protocol for Endoscopic Baton‐Plate Adjustment in Neonates With Pierre Robin Sequence

Pediatric Anesthesia, EarlyView.
ABSTRACT Background Robin sequence (RS) is characterized by upper airway obstruction leading to life‐threatening desaturations in neonates. Procedural sedation in this population presents unique challenges due to anatomical airway anomalies, young patient age, and associated comorbidities.
Nicolas Leister, Sarah Achterrath, Uwe Trieschmann, Teresa Kruse, Bert Braumann, Volker C. Schick   +5 more
wiley   +1 more source

Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds

Disease Models & Mechanisms, 2017
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant neuromuscular diseases caused by microsatellite expansions and belong to the family of RNA-dominant disorders.
Ludovic Arandel, Micaela Polay Espinoza, Magdalena Matloka, Audrey Bazinet, Damily De Dea Diniz, Naïra Naouar, Frédérique Rau, Arnaud Jollet, Frédérique Edom-Vovard, Kamel Mamchaoui, Mark Tarnopolsky, Jack Puymirat, Christophe Battail, Anne Boland, Jean-Francois Deleuze, Vincent Mouly, Arnaud F. Klein, Denis Furling   +17 more
doaj   +1 more source

Autism spectrum disorder assessment in cerebral palsy and other early‐onset motor conditions: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To map diagnostic procedures and standardized instruments reportedly used to identify autism spectrum disorder (ASD) in people with cerebral palsy or other early‐onset motor conditions (EOMC) including Rett syndrome and muscular dystrophy.
Olga Laporta‐Hoyos, Marina Fernández‐Andújar, Lee Reid, Marta Oporto‐Alonso, Júlia Ballester‐Plané, América Carrascal‐Zuluaga, María Gutiérrez‐del Hoyo, Jacqui Ferraiolo, Magnus Påhlman, Kate Himmelmann, Somer Bishop, Roser Pueyo   +11 more
wiley   +1 more source