Results 71 to 80 of about 4,944 (184)

Safety and efficacy of a 6-month home-based exercise program in patients with facioscapulohumeral muscular dystrophy [PDF]

, 2016
Background: Previous randomized controlled trials investigating exercise training programs in facioscapulohumeral muscular dystrophy (FSHD) patients are scarce and of short duration only.
Antoine, Jean-Christophe, Bachasson, Damien, Bankolé, Landry-Cyrille, Féasson, Léonard, Kadi, Fawzi, Millet, Guillaume, Ponsot, Elodie, Ravelojaona, Marion, Temesi, John, Verges, Samuel, Wuyam, Bernard   +10 more
core   +4 more sources

Molecular cloning of ion channels in Felis catus that are related to periodic paralyses in man: a contribution to the understanding of the genetic susceptibility to feline neck ventroflexion and paralysis [PDF]

, 2014
Neck ventroflexion in cats has different causes; however, the most common is the hypokalemia associated with flaccid paralysis secondary to chronic renal failure.
Castillo, Victor A., Dias-da-Silva, Magnus Régios, Kunii, Ilda Shizue, Maciel, Rui Monteiro de Barros, Paninka, Rolf M., Reche, Archivaldo, Simoes, Denise M. N., Zapata, Marlyn   +7 more
core   +4 more sources

Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy [PDF]

, 2021
Skeletal muscle ion channelopathies (SMICs) are a large heterogeneous group of rare genetic disorders caused by mutations in genes encoding ion channel subunits in the skeletal muscle mainly characterized by myotonia or periodic paralysis, potentially ...
Concetta Altamura, Jean-Francois Desaphy, Lorenzo Maggi, Silvia Bonanno   +3 more
core   +1 more source

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

Andersen-Tawil Syndrome Presenting with Complete Heart Block

Journal of Neuromuscular Diseases, 2020
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant neuromuscular disorder due to mutations in the KCNJ2 gene. The classical phenotype of ATS consists of a triad of periodic paralysis, cardiac conduction abnormalities and dysmorphic features.
Suetterlin K, Männikkö R, Flossmann E, Sud R, Fialho D, Vivekanandam V, James N, Gossios TD, Hanna MG, Savvatis K, Matthews E   +10 more
openaire   +5 more sources

Translating cardiovascular ion channel and Ca2+ signalling mechanisms into therapeutic insights

The Journal of Physiology, EarlyView.
Abstract figure legend This white paper integrates mechanistic discoveries across ion channel biology, Ca2+ signalling and multiscale cardiovascular physiology to highlight new opportunities for accelerating research and guiding next‐generation therapies.
Silvia Marchianò, Miguel Martín‐Aragón Baudel, Charlotte E. R. Smith, Gonzalo Hernandez Hernandez, Donald M. Bers, Patrick M. Boyle, Dobromir Dobrev, Shanna Hamilton, Osama F. Harraz, Na Li, Thomas A. Longden, William E. Louch, Madeline Nieves‐Cintron, Matthew A. Nystoriak, Walter Lee Murfee, Przemysław B. Radwański, Swapnil K. Sonkusare, Manuel F. Navedo, Eleonora Grandi   +18 more
wiley   +1 more source

Chronic Propafenone Application Increases Functional K_IR2.1 Expression In Vitro

Pharmaceuticals, 2023
Expression and activity of inwardly rectifying potassium (KIR) channels within the heart are strictly regulated. KIR channels have an important role in shaping cardiac action potentials, having a limited conductance at depolarized potentials but ...
Encan Li, Willy Kool, Liset Woolschot, Marcel A. G. van der Heyden   +3 more
doaj   +1 more source

An inwardly rectifying K+ channel is required for patterning. [PDF]

, 2012
Mutations that disrupt function of the human inwardly rectifying potassium channel KIR2.1 are associated with the craniofacial and digital defects of Andersen-Tawil Syndrome, but the contribution of Kir channels to development is undefined.
Bates, Emily, Dahal, Giri Raj, Gassaway, Brandon, Kwok, Benjamin, Ptácek, Louis J, Rawson, Joel, Tong, Ying   +6 more
core  

Hyperthyroid Hypokalemic Periodic Paralysis in a Nepali Male; A Case Report

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Hyperthyroid Hypokalemic Periodic Paralysis (HHPP), marked by acute weakness and hypokalemia. Prompt potassium replacement and hyperthyroidism management are essential to prevent life‐threatening outcomes. This case highlights its presentation in a Nepali male, reinforcing the need for high clinical suspicion.
Ashish Tamang, Prakash Sapkota, Sankalpa Humagain, Kemisha Dhakal, Chhavi Sachdeva, Deshant Shah, Prakriti Lamsal   +6 more
wiley   +1 more source

Exploring the perspectives and voices of students with autism on the academic adjustments they receive: A systematic review

Journal of Research in Special Educational Needs, Volume 25, Issue 4, Page 958-972, October 2025.
Abstract As the number of students with autism enrolled in general education increases, there remains a need to support their academic achievement. While much of the existing literature presents the ways that teachers can support the social, emotional or sensory needs of students with autism, research into the academic supports for school‐aged students
Aidan McKeegan, Jessica Zoe Zanuttini
wiley   +1 more source