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RYR1-related rhabdomyolysis:A common but probably underdiagnosed manifestation of defective skeletal muscle ryanodine receptor dysfunction

• Authors : Voermans, N.C.; Snoeck, M.; Jungbluth, H.

Subjects: Skeletal muscle ryanodine receptor (RYR1) gene; Ryanodine receptor (RyR1); Exertional rhabdomyolysis

• Source: Voermans , N C , Snoeck , M & Jungbluth , H 2016 , ' RYR1-related rhabdomyolysis : A common but probably underdiagnosed manifestation of defective skeletal muscle

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RYR1-related rhabdomyolysis:A common but probably underdiagnosed manifestation of defective skeletal muscle ryanodine receptor dysfunction

• Authors : Voermans, N.C.; Snoeck, M.; Jungbluth, H.

Subjects: Skeletal muscle ryanodine receptor (RYR1) gene; Ryanodine receptor (RyR1); Exertional rhabdomyolysis

• Source: Voermans , N C , Snoeck , M & Jungbluth , H 2016 , ' RYR1-related rhabdomyolysis : A common but probably underdiagnosed manifestation of defective skeletal muscle

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Ryanodine receptors are part of the myospryn complex in cardiac muscle

• Authors : Benson, Matthew A.; Tinsley, Caroline L.; Waite, Adrian J.

• Source: Benson , M A , Tinsley , C L , Waite , A J , Carlisle , F A , Sweet , S M M , Ehler , E , George , C H , Lai , F A , Martin-Rendon , E & Blake , D J 2017 , ' Ryanodine

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Ryanodine receptors are part of the myospryn complex in cardiac muscle

• Authors : Benson, Matthew A.; Tinsley, Caroline L.; Waite, Adrian J.

• Source: Benson , M A , Tinsley , C L , Waite , A J , Carlisle , F A , Sweet , S M M , Ehler , E , George , C H , Lai , F A , Martin-Rendon , E & Blake , D J 2017 , ' Ryanodine

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Pancreatitis in RYR1 -related disorders

• Authors : Famili, Dennis T.; Mistry, Arti; Gerasimenko, Oleg

Subjects: Acute pancreatitis; Calcium signalling; Ryanodine receptor

• Source: Famili , D T , Mistry , A , Gerasimenko , O , Gerasimenko , J , Tribe , R M , Kyrana , E , Dhawan , A , Goldberg , M F , Voermans , N , Willis , T & Jungbluth , H 2023 , ' Pancreatitis in RYR1

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Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility

• Authors : Van Den Bersselaar, Luuk R.; Van Alfen, Nens; Kruijt, Nick

Subjects: Anesthesia; exertional rhabdomyolysis; malignant hyperthermia

• Source: Van Den Bersselaar , L R , Van Alfen , N , Kruijt , N , Kamsteeg , E J , Fernandez-Garcia , M A , Treves , S , Riazi , S , Yang , C Y , Malagon , I , Van Eijk , L T , Van Engelen , B G M , Scheffer ,

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Parental mosaicism in RYR1 -related Central Core Disease

• Authors : Marks, S.; van Ruitenbeek, E.; Fallon, P.

Subjects: skeletal muscle ryanodine receptor (RYR1) gene; Central Core Disease (CCD); mosaicism

• Source: Marks , S , van Ruitenbeek , E , Fallon , P , Johns , P , Phadke , R , Mein , R , Mohammed , S & Jungbluth , H 2018 , ' Parental mosaicism in RYR1 -related Central Core Disease ' , Neuromuscular

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Parental mosaicism in RYR1 -related Central Core Disease

• Authors : Marks, S.; van Ruitenbeek, E.; Fallon, P.

Subjects: skeletal muscle ryanodine receptor (RYR1) gene; Central Core Disease (CCD); mosaicism

• Source: Marks , S , van Ruitenbeek , E , Fallon , P , Johns , P , Phadke , R , Mein , R , Mohammed , S & Jungbluth , H 2018 , ' Parental mosaicism in RYR1 -related Central Core Disease ' , Neuromuscular

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Hypoxic pulmonary vasoconstriction in the absence of pretone:essential role forintracellular Ca2+ release

• Authors : Connolly, Michelle J.; Prieto-Lloret, Jesus; Becker, Silke

Subjects: SMOOTH-MUSCLE-CELLS; ACTIVATED PROTEIN-KINASE; ADENINE-DINUCLEOTIDE PHOSPHATE

• Source: Connolly , M J , Prieto-Lloret , J , Becker , S , Ward , J P T & Aaronson , P I 2013 , ' Hypoxic pulmonary vasoconstriction in the absence of pretone : essential role forintracellular Ca2+ release ' ,

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Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding

• Authors : Brackmann, Florian; Türk, Matthias; Gratzki, Nils

Subjects: ryanodine receptor; RYR1; myopathy

• Source: Brackmann , F , Türk , M , Gratzki , N , Rompel , O , Jungbluth , H , Schröder , R & Trollmann , R 2017 , ' Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita

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