Results 131 to 140 of about 11,986 (188)

Anesthesia Management in a Patient With a History of Fulminant Malignant Hyperthermia and a Homozygous RYR1 p.Arg530His Variant Undergoing Laparoscopic Surgery: A Case Report. [PDF]

Am J Case Rep
Murao Y, Mukaida K, Kondo H, Nao Y, Ueki M, Hashimoto K, Ikeda T, Miyoshi H, Tsutsumi YM.   +8 more
europepmc   +1 more source

Genomic Reanalysis of Neurodevelopmental Disorders With and Without Epilepsy: Diagnostic Yield and Mechanisms of Newly Established Diagnoses. [PDF]

Genes (Basel)
Yoon DH, Seol CA, Rhim JW, Han JY.
europepmc   +1 more source

Malignant Hyperthermia in Sweden: Clinical Presentations and Genetic Findings. [PDF]

Acta Anaesthesiol Scand
Hellblom A, Soller M, Samuelsson C.
europepmc   +1 more source

A New Paradigm for Precision Medicine in Heatstroke: From Molecular Subtyping to Targeted Prevention and Treatment. [PDF]

J Inflamm Res
Xia Y, Zhang P, Zhang Z, Gan L, Yao R.
europepmc   +1 more source

Pathogenic Ca_V1.1 Variants Cause Hyperpolarizing Shift of Depolarization-Induced Ca²⁺ Release in Malignant Hyperthermia Susceptibility. [PDF]

Commun Biol
Murayama T, Numaga-Tomita T, Miyoshi H, Ikeda T, Mukaida K, Kobayashi T, Kurebayashi N, Nakada T, Tomida T, Adachi-Akahane S, Tsutsumi YM, Yamada M, Sakurai T.   +12 more
europepmc   +1 more source

<i>Drosophila</i> ryanodine receptor gene triggers functional and developmental muscle properties and could be used to assess the impact of human <i>RYR1</i> mutations. [PDF]

Elife
Zmojdzian M, Jagla T, Cherik F, Dubinska-Magiera M, Migocka-Patrzałek M, Daczewska M, Rendu J, Jagla K, Sarret C.   +8 more
europepmc   +1 more source

Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients. [PDF]

Eur J Hum Genet
Zanotti S, Magri F, Salani S, Napoli L, Ripolone M, Pagliarani S, Ronchi D, Fortunato F, Ciscato P, Cassandrini D, Fattori F, D'Angelo MG, Albamonte E, Nigro V, Sciacco M, Corti S, Comi GP, Piga D.   +17 more
europepmc   +1 more source

Advanced modelling of RYR1-related myopathies using human iPS cells and 3D engineered skeletal muscles

Rossi L, Choi S, Olden IT, Biehler A, Healy L, Muntoni F, Baranello G, Sarkozy A, Lionello VM, Tedesco FS.   +9 more
europepmc   +1 more source

A bitter melon natural compound ameliorates the myotonic dystrophy type 1 skeletal muscle phenotype in a sex-specific manner. [PDF]

Neurotherapeutics
Atieh SA, Fahmi C, Liu J, Tang C, Ye Y, Ravel-Chapuis A, Jasmin BJ.   +6 more
europepmc   +1 more source

Structural and Dynamic Perturbations in the RyR1 Selectivity Filter Induced by Ala4893 Mutations: Implications for Malignant Hyperthermia and Myopathy. [PDF]

ACS Omega
Taweechat P, Boonamnaj P, Lerttanakij P, Sompornpisut P.   +3 more
europepmc   +1 more source