Results 181 to 190 of about 16,999 (238)

Alternating Hemispheric Diffusion-Weighted Imaging Abnormalities: A Characteristic Imaging Pattern in RHOBTB2 Encephalopathy. [PDF]

Korean J Radiol
Guo Y, Peng X.
europepmc   +1 more source

Editorial: Reviews in pharmacology of ion channels and channelopathies

Frontiers in Pharmacology
Jinwei Zhang, Jinwei Zhang, Jinwei Zhang, Jean-Marc Sabatier, Mohamed Chahine, Domenico Tricarico   +5 more
doaj   +1 more source

High-throughput screens identify genotype-specific therapeutics for channelopathies. [PDF]

JCI Insight
Egly CL, Shen A, Do TQ, Tellet Cabiya C, Ritschel PA, Woo S, Ku M, Delisle BP, Kroncke BM, Knollmann BC.   +9 more
europepmc   +1 more source

Nonsteroidal Anti-Inflammatory Drugs as Modulators of Cation Channels: Fenamates Repurposing in Channelopathies. [PDF]

ChemMedChem
Laghetti P, Altamura C, Dell'Atti S, Desaphy JF, Saltarella I.   +4 more
europepmc   +1 more source

Fetal Rapid Eye Movement Sleep Dysfunction as a Potential Early Indicator for NALCN-Related CLIFAHDD Syndrome: A Case Report. [PDF]

Prenat Diagn
Fukumori F, Maeda Y, Maki K, Takenouchi T, Kosaki K, Funato H, Kondo E, Ikeda T.   +7 more
europepmc   +1 more source

Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia. [PDF]

Ann Neurol
Routledge N, Lammens M, Maroofian R, Beland B, Murphy D, Mir A, Ullah Z, Alvi JR, Sultan T, Efthymiou S, Bosmans F, Houlden H.   +11 more
europepmc   +1 more source

Sudden cardiac death in the young: single-center study of Bari autopsy cases. [PDF]

Front Cardiovasc Med
Salzillo C, Ciccone MM, Introna F, Santobuono VE, Solarino B, Marzullo A.   +5 more
europepmc   +1 more source

India-specific cardiogenetic aspects: Focus on cardiomyopathies and inherited arrhythmia syndromes. [PDF]

Indian Pacing Electrophysiol J
Chockalingam P, Anantharaman R.
europepmc   +1 more source

Making Sense of Missense: Benchmarking MutScore for Variant Interpretation in Inherited Cardiac Diseases. [PDF]

Mol Diagn Ther
Porretta AP, Fressart V, Surget E, Morgat C, Bloch A, Messali A, Algalarrondo V, Vedrenne G, Pruvot E, Leenhardt A, Denjoy I, Extramiana F.   +11 more
europepmc   +1 more source

[Channelopathies].

Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine, 1999
openaire   +1 more source