Results 51 to 60 of about 489,393 (127)

Biochemical Abnormalities of Muscle Ribosomes During Attacks of Hyperkalemic Periodic Paralysis

, 1973
Three familial cases (a mother and 2 sons) with hyperkalemic periodic paralysis are presented. Myotonia (orbicularis oculi and hands) was noted all 3 cases. Exposure to cold produced weakness in the 2 older patients.
Ionasescu, V., Conway, T. W., Schochet, S. S., Zellweger, H.   +3 more
core   +1 more source

Mechanisms underlying the distinct K+ dependencies of periodic paralysis. [PDF]

J Gen Physiol
Patients with periodic paralysis have attacks of weakness precipitated by depolarization of muscle. Each form of periodic paralysis is associated with unique changes in serum K+ during attacks of weakness. In hypokalemic periodic paralysis (hypoKPP), the
Foy BD, Dupont C, Walker PV, Denman K, Engisch KL, Rich MM.   +5 more
europepmc   +2 more sources

PCR-DIAGNOSTICATION OF INHERITED DISEASES OF HORSES

Животновъдни науки, 2013
PCR-diagnostication of two inherited diseases of horses: severe combined immunodeficiency and hyperkalemic periodic paralysis was conducted. There were not found carriers of mutations among the tested animals.
Yriy Kurilenko
doaj  

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing

American Journal of Medical Genetics Part A, Volume 194, Issue 11, November 2024.
Abstract The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults.
Angela M. Bard, Lindsay V. Clark, Erdal Cosgun, Kimberly A. Aldinger, Andrew Timms, Lely A. Quina, Juan M. Lavista Ferres, David Jardine, Elisabeth A. Haas, Tatiana M. Becker, Chelsea M. Pagan, Avni Santani, Diego Martinez, Soumitra Barua, Zakkary McNutt, Addie Nesbitt, Edwin A. Mitchell, Jan‐Marino Ramirez   +17 more
wiley   +1 more source

Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita

, 1992
Two polymorphic dinucleotide repeats–one (dGdA) n and one (dGdT) n –have been identified at the SCN4A locus, encoding the α-subunit of the adult skeletal muscle sodium channel.
McKenna-Yasek, Diane, Brown, Robert H, Gusella, James F, Raskind, Wendy, Worthen, Hilary G, Radosavljevic, Danica, Pericak-Vance, Margaret, Bird, Thomas, Arahata, Kiichi, Haines, Jonathan L, Van den Bergh, Peter, Gilchrist, James, McClatchey, Andrea I, Trofatter, James   +13 more
core   +4 more sources

Dynamic nasopharyngeal collapse in horses: What we know so far

Equine Veterinary Journal, Volume 56, Issue 6, Page 1129-1137, November 2024.
Abstract Dynamic nasopharyngeal collapse (NPC) is an obstructive upper airway disease that affects mainly the inspiratory phase of respiration in horses undergoing strenuous exercise. It occurs when the neuromuscular activity of the nasopharynx is overwhelmed by the intense negative pressures generated during exercise.
Sharon Jeong, Stephanie L. Bond, Albert Sole‐Guitart   +2 more
wiley   +1 more source

The Role of the Defective Nav1.4 Channels in the Mechanism of Hyperkalemic Periodic Paralysis

, 2012
Hyperkalemic periodic paralysis (HyperKPP) is an autosomal dominant human skeletal muscle channelopathy that causes periods of myotonic discharge and periodic paralysis due to defective Nav1.4 sodium channels.
Lucas, Brooke
core   +2 more sources

Muscle channelopathies and electrophysiological approach

Annals of Indian Academy of Neurology, 2008
Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly by muscle stiffness or episodic attacks of weakness.
Cherian Ajith, Baheti Neeraj, Kuruvilla Abraham   +2 more
doaj  

Calcium Alleviates Symptoms in Hyperkalemic Periodic Paralysis by Reducing the Abnormal Sodium Influx

, 2012
Hyperkalemic periodic paralysis, HyperKPP, is an inherited progressive disorder of the muscles caused by mutations in the voltage gated sodium channel (NaV1.4).
DeJong, Danica
core   +2 more sources

Congenital heart defects in Arabian horses and the prospects of genetic testing: A review

Equine Veterinary Journal, Volume 56, Issue 5, Page 884-891, September 2024.
Abstract Congenital heart defects (CHDs) can have profound and potentially life‐threatening consequences on horses' health and performance capability. While CHDs are rare in the general horse population, the Arabian breed is disproportionately overrepresented and thus is widely suspected to be genetically predisposed.
Caitlin Brown, Monika Stefaniuk‐Szmukier, Annelies Decloedt, Niek Beijerink, Natasha A. Hamilton, Brandon D. Velie   +5 more
wiley   +1 more source