Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.
Jackson M, Thomas MA, Suchet I, Mahallati H, Kuret V, Lauzon J.

A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.
Benucci S, Ruiz A, Franchini M, Ruggiero L, Zoppi D, Sitsapesan R, Lindsay C, Pelczar P, Pietrangelo L, Protasi F, Treves S, Zorzato F.,

Structural and functional interactions between the EF hand domain and S2-S3 loop in the type-1 ryanodine receptor ion channel.
Chirasani VR, Elferdink M, Kral M, Carter JS, Heitmann S, Meissner G, Yamaguchi N., Free PMC Article

Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy.
Godbout K, Rousseau J, Tremblay JP., Free PMC Article

Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies.
Vidal J, Fernandez EA, Wohlwend M, Laurila PP, Lopez-Mejia A, Ochala J, Lobrinus AJ, Kayser B, Lopez-Mejia IC, Place N, Zanou N., Free PMC Article

Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.
Noda Y, Miyoshi H, Benucci S, Gonzalez A, Bandschapp O, Girard T, Treves S, Zorzato F.

Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program.
Yu KD, Betts MN, Urban GM, Schwartz MLB, Robinson TO, Moyer RJ, Taddonio SW, Vasudevan A, Johns A, Sturm AC, Kelly MA, Williams MS, Poler SM, Buchanan AH.

Pancreatitis in RYR1-related disorders.
Famili DT, Mistry A, Gerasimenko O, Gerasimenko J, Tribe RM, Kyrana E, Dhawan A, Goldberg MF, Voermans N, Willis T, Jungbluth H.

Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations.
Sonne A, Antonovic AK, Melhedegaard E, Akter F, Andersen JL, Jungbluth H, Witting N, Vissing J, Zanoteli E, Fornili A, Ochala J., Free PMC Article

ERO1α primes the ryanodine receptor to respond to arsenite with concentration dependent Ca(2+) release sequentially triggering two different mechanisms of ROS formation.
Guidarelli A, Spina A, Buffi G, Blandino G, Fiorani M, Cantoni O.

Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.
van den Bersselaar LR, van Alfen N, Kruijt N, Kamsteeg EJ, Fernandez-Garcia MA, Treves S, Riazi S, Yang CY, Malagon I, van Eijk LT, van Engelen BGM, Scheffer GJ, Jungbluth H, Snoeck MMJ, Voermans NC., Free PMC Article

Risk of malignant hyperthermia in patients carrying a variant in the skeletal muscle ryanodine receptor 1 gene.
Janssens L, De Puydt J, Milazzo M, Symoens S, De Bleecker JL, Herdewyn S.

Functional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia.
White R, Schiemann AH, Burling SM, Bjorksten A, Bulger T, Gillies R, Hopkins PM, Kamsteeg EJ, Machon RG, Massey S, Miller D, Perry M, Snoeck MMJ, Stephens J, Street N, van den Bersselaar LR, Stowell KM.

The reduced contraction capacity of palatopharyngeal muscle in OSAHS is related to the decreased intra-cellular [Ca(2+)] mediated by low RyR1 and DHPRα1s expression.
Wang M, Zhao Q, Ma Z, Yang H, Hao L, Du K.

Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy.
Vattemi GNA, Rossi D, Galli L, Catallo MR, Pancheri E, Marchetto G, Cisterna B, Malatesta M, Pierantozzi E, Tonin P, Sorrentino V., Free PMC Article

The ryanodine receptor mutational characteristics and its indication for cancer prognosis.
Wang F, Yu J, Lin P, Sigalas C, Zhang S, Gong Y, Sitsapesan R, Song L., Free PMC Article

Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH).
Riazi S, Bersselaar LRVD, Islander G, Heytens L, Snoeck MMJ, Bjorksten A, Gillies R, Dranitsaris G, Hellblom A, Treves S, Kunst G, Voermans NC, Jungbluth H.

Molecular mechanism of the severe MH/CCD mutation Y522S in skeletal ryanodine receptor (RyR1) by cryo-EM.
Iyer KA, Hu Y, Klose T, Murayama T, Samsó M., Free PMC Article

Ryanodine receptor 1-mediated Ca(2+) signaling and mitochondrial reprogramming modulate uterine serous cancer malignant phenotypes.
Zhang L, Au-Yeung CL, Huang C, Yeung TL, Ferri-Borgogno S, Lawson BC, Kwan SY, Yin Z, Wong ST, Thomas V, Lu KH, Yip KP, Sham JSK, Mok SC., Free PMC Article

Heat-hypersensitive mutants of ryanodine receptor type 1 revealed by microscopic heating.
Oyama K, Zeeb V, Yamazawa T, Kurebayashi N, Kobirumaki-Shimozawa F, Murayama T, Oyamada H, Noguchi S, Inoue T, Inoue YU, Nishino I, Harada Y, Fukuda N, Ishiwata S, Suzuki M., Free PMC Article

Identification of Potential Biomarkers for Ryanodine Receptor 1 (RYR1) Mutation-Associated Myopathies Using Bioinformatics Approach.
Wang X, Kong C, Liu P, Geng W, Tang H., Free PMC Article

RyR1-related myopathy mutations in ATP and calcium binding sites impair channel regulation.
Yuan Q, Dridi H, Clarke OB, Reiken S, Melville Z, Wronska A, Kushnir A, Zalk R, Sittenfeld L, Marks AR., Free PMC Article

Crosstalk between ERO1α and ryanodine receptor in arsenite-dependent mitochondrial ROS formation.
Spina A, Guidarelli A, Fiorani M, Varone E, Catalani A, Zito E, Cantoni O.

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A, Cassandrini D, Fiorillo C, Codemo V, Astrea G, D'Amico A, Maggi L, Magri F, Pane M, Tasca G, Sabbatini D, Bello L, Battini R, Bernasconi P, Fattori F, Bertini ES, Comi G, Messina S, Mongini T, Moroni I, Panicucci C, Berardinelli A, Donati A, Nigro V, Pini A, Giannotta M, Dosi C, Ricci E, Mercuri E, Minervini G, Tosatto S, Santorelli F, Bruno C, Pegoraro E., Free PMC Article

Glycation of ryanodine receptor in circulating lymphocytes predicts the response to cardiac resynchronization therapy.
Gambardella J, Jankauskas SS, D'Ascia SL, Sardu C, Matarese A, Minicucci F, Mone P, Santulli G., Free PMC Article