Results 71 to 80 of about 1,955 (161)

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Antiarrhythmic effects of dantrolene in human diseased cardiomyocytes

, 2017
BACKGROUND Cardiac type 2 ryanodine receptors (RyR(2)s) Play a pivotal role in cellular electrophysiology and contractility. Increased RyR(2)-mediated diastolic sarcoplasmic reticulum (SR) Ca2+ release is linked to heart failure (HF) and arrhythmias ...
Schatter, Felix, Maier, Lars S., Renner, André, Herting, Jonas, Schotola, Hanna, Pabel, Steffen, Sossalla, Samuel, Hartmann, Nico, Danner, Bernhard C., Fischer, Thomas H., Frey, Norbert, Gummert, Jan, Hasenfuss, Gerd   +12 more
core   +1 more source

Understanding CPVT pathogenic mechanisms based on mutation location within RyR2: towards personalized medicine?

The Journal of Physiology, Volume 604, Issue 16, Page 6558-6560, 15 August 2026.
Jean‐Pierre Benitah, Esther Zorio, Ana María Gómez   +2 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Dantrolene sodium이 적혈구의 calcium이동에 미치는 영향

, 1984
의학과/박사[영문] [한글] Dantrolene sodium은 malignant hyperthermia를 유발하는 근강직(muscle spasticity)의 치료에 널리 사용되고 있는 골격근 이완제로써 그 작용방식은 sarcoplasmic reticulum에 서 calcium의 유리를 억제하여 excitation-contraction coupling과정을 방해함으로써 근 육수축을 감소시키는 것으로 보고되었다.
노용수
core  

Impairment of Glucose Uptake Induced by Elevated Intracellular Ca²⁺ in Hippocampal Neurons of Malignant Hyperthermia-Susceptible Mice

Cells
Malignant hyperthermia (MH) is a genetic disorder triggered by depolarizing muscle relaxants or halogenated inhalational anesthetics in genetically predisposed individuals who have a chronic elevated intracellular Ca2+ concentration ([Ca2+]i) in their ...
Arkady Uryash, Alfredo Mijares, Jose A. Adams, Jose R. Lopez   +3 more
doaj   +1 more source

Dantrolene is neuroprotective in Huntington's disease transgenic mouse model

Molecular Neurodegeneration, 2011
Background Huntington's disease (HD) is a progressive neurodegenerative disorder caused by a polyglutamine expansion in the Huntingtin protein which results in the selective degeneration of striatal medium spiny neurons (MSNs).
Chen Xi, Wu Jun, Lvovskaya Svetlana, Herndon Emily, Supnet Charlene, Bezprozvanny Ilya   +5 more
doaj   +1 more source

Selective inhibition of glucose-stimulated insulin release by dantrolene

, 1982
Dantrolene sodium, which interferes with excitation-contraction coupling by inhibiting the Ca2+ release from sarcoplasmic reticulum in muscle, was used to investigate the role of stored calcium in the stimulation of insulin release by various ...
C. B. Wollheim, G. W. Sharp, D. Janjic
core   +1 more source

Acute postoperative sepsis mimicking symptomology suspicious for malignant hyperthermia: case report

Brazilian Journal of Anesthesiology, 2019
Background: Sepsis is a life-threatening organ dysfunction with non-specific clinical features that can mimic other clinical conditions with hyper metabolic state such as malignant hyperthermia.
Vendhan Ramanujam, Christopher R. Hoffman, Kevin Russo, Michael S. Green   +3 more
doaj   +1 more source

การรักษา malignant hyperthermia สำเร็จด้วยยา dantrolene: รายงานผู้ป่วย

, 2023
Malignant hyperthermia (MH) is a pharmacogenetic disease of striated muscle induced by exposure to inhalational agents and succinylcholine, which can lead to serious anesthetic complications and even death.
Phojai, Sirada
core   +1 more source