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Exome Sequencing Reveals Novel Rare Variants in the Ryanodine Receptor and Calcium Channel Genes in Malignant Hyperthermia Families

Jerry H. Kim, M.D., Gail P. Jarvik, M.D., Ph.D., Brian L. Browning, Ph.D., Ramakrishnan Rajagopalan, M.S., Adam S. Gordon, B.A., Mark J. Rieder, Ph.D., Peggy D. Robertson, Ph.D., Deborah A. Nickerson, Ph.D., Nickla A. Fisher, M.Sc., Philip M. Hopkins, M.B.B.S., M.D., F.R.C.A.

Anesthesiology. November 2013: 119(5):1054–1065

https://doi.org/10.1097/ALN.0b013e3182a8a998

Published: November 2013

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Articles

Skeletal Muscle Ryanodine Receptor Mutations Associated with Malignant Hyperthermia Showed Enhanced Intensity and Sensitivity to Triggering Drugs when Expressed in Human Embryonic Kidney Cells

Keisaku Sato, Ph.D., Cornelia Roesl, M.Sc., Neil Pollock, M.B.Ch.B., F.R.C.A., F.A.N.Z.C.A., M.D., Kathryn M. Stowell, Ph.D.

Anesthesiology. July 2013: 119(1):111–118

https://doi.org/10.1097/ALN.0b013e31828cebfe

Published: July 2013

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Articles

Identical de novo Mutation in the Type 1 Ryanodine Receptor Gene Associated with Fatal, Stress-induced Malignant Hyperthermia in Two Unrelated Families

Linda Groom, B.Sc., Sheila M. Muldoon, M.D., Zhen Zhi Tang, Ph.D., Barbara W. Brandom, M.D., Munkhuu Bayarsaikhan, Ph.D., Saiid Bina, Ph.D., Hee-Suk Lee, M.D., Xing Qiu, Ph.D., Nyamkhishig Sambuughin, Ph.D., Robert T. Dirksen, Ph.D.

Anesthesiology. November 2011: 115(5):938–945

https://doi.org/10.1097/ALN.0b013e3182320068

Published: November 2011

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Articles

Functional Studies of RYR1 Mutations in the Skeletal Muscle Ryanodine Receptor Using Human RYR1 Complementary DNA

Keisaku Sato, M.Sc., Neil Pollock, M.B.Ch.B., Kathryn M. Stowell, Ph.D.

Anesthesiology. June 2010: 112(6):1350–1354

https://doi.org/10.1097/ALN.0b013e3181d69283

Published: June 2010

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Articles

Exertional Rhabdomyolysis and Malignant Hyperthermia in a Patient with Ryanodine Receptor Type 1 Gene, L-type Calcium Channel α-1 Subunit Gene, and Calsequestrin-1 Gene Polymorphisms

John F. Capacchione, M.D., Nyamkhishig Sambuughin, Ph.D., Saiid Bina, Ph.D., Lisa P. Mulligan, M.D., Tamara D. Lawson, M.D., Sheila M. Muldoon, M.D.

Anesthesiology. January 2010: 112(1):239–244

https://doi.org/10.1097/ALN.0b013e3181c29504

Published: January 2010

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Articles

Novel Ryanodine Receptor Mutation That May Cause Malignant Hyperthermia

Alexius Kaufmann, M.S., Birgit Kraft, M.D., Andrea Michalek-Sauberer, M.D., Lukas G. Weigl, Ph.D.

Anesthesiology. September 2008: 109(3):457–464

https://doi.org/10.1097/ALN.0b013e318182a93b

Published: September 2008

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Articles

Protocol for the Sequence Analysis of Ryanodine Receptor Subtype 1 Gene Transcripts from Human Leukocytes

Natasha Kraev, Ph.D., Julian C. P. Loke, M.B.B.S., B.Med.Sc., Alexander Kraev, Ph.D., David H. MacLennan, Ph.D.

Anesthesiology. August 2003: 99(2):289–296

https://doi.org/10.1097/00000542-200308000-00010

Published: August 2003

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Articles

Detection of a Novel Ryanodine Receptor Subtype 1 Mutation (R328W) in a Malignant Hyperthermia Family by Sequencing of a Leukocyte Transcript

Julian C. P. Loke, M.B.B.S., B.Med.Sc., Natasha Kraev, Ph.D., Parveen Sharma, Ph.D., GuoGuang Du, Ph.D., Leena Patel, M.D., Alexander Kraev, Ph.D., David H. MacLennan, Ph.D.

Anesthesiology. August 2003: 99(2):297–302

https://doi.org/10.1097/00000542-200308000-00011

Published: August 2003

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Articles

Results of Contracture Tests with Halothane, Caffeine, and Ryanodine Depend on Different Malignant Hyperthermia-associated Ryanodine Receptor Gene Mutations

Marko Fiege, M.D., Frank Wappler, M.D., Ralf Weisshorn, M.D., Mark Ulrich Gerbershagen, M.D., Markus Steinfath, M.D., Jochen Schulte am Esch, M.D.

Anesthesiology. August 2002: 97(2):345–350

https://doi.org/10.1097/00000542-200208000-00010

Published: August 2002

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Articles

North American Malignant Hyperthermia Population: Screening of the Ryanodine Receptor Gene and Identification of Novel Mutations

Nyamkhishig Sambuughin, Ph.D., Yoshitatsu Sei, M.D., Ph.D., Kathleen L. Gallagher, M.S., Hadley W. Wyre, Daniel Madsen, M.D., Thomas E. Nelson, Ph.D., Jeffrey E. Fletcher, Ph.D., Henry Rosenberg, M.D., Sheila M. Muldoon, M.D.

Anesthesiology. September 2001: 95(3):594–599

https://doi.org/10.1097/00000542-200109000-00009

Published: September 2001

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Articles

Dantrolene Sodium Can Increase or Attenuate Activity of Skeletal Muscle Ryanodine Receptor Calcium Release Channel: Clinical Implications

Thomas E. Nelson, PhD, Marina Lin, MS, Gisele Zapata-Sudo, MD, PhD, Roberto Takashi Sudo, MD, PhD

Anesthesiology. June 1996: 84(6):1368–1379

https://doi.org/10.1097/00000542-199606000-00013

Published: June 1996

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Articles

Chlorocresol, an Additive to Commercial Succinylcholine, Induces Contracture of Human Malignant Hyperthermia-susceptible Muscles Via Activation of the Ryanodine Receptor Calcium sup 2+ Channel

Vincenzo Tegazzin, MD, Erica Scutari, MSc, Susan Treves, PhD, Francesco Zorzato, MD, PhD

Anesthesiology. June 1996: 84(6):1380–1385

https://doi.org/10.1097/00000542-199606000-00014

Published: June 1996

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NARROW

Exome Sequencing Reveals Novel Rare Variants in the Ryanodine Receptor and Calcium Channel Genes in Malignant Hyperthermia Families

Skeletal Muscle Ryanodine Receptor Mutations Associated with Malignant Hyperthermia Showed Enhanced Intensity and Sensitivity to Triggering Drugs when Expressed in Human Embryonic Kidney Cells

Identical de novo Mutation in the Type 1 Ryanodine Receptor Gene Associated with Fatal, Stress-induced Malignant Hyperthermia in Two Unrelated Families

Functional Studies of RYR1 Mutations in the Skeletal Muscle Ryanodine Receptor Using Human RYR1 Complementary DNA

Exertional Rhabdomyolysis and Malignant Hyperthermia in a Patient with Ryanodine Receptor Type 1 Gene, L-type Calcium Channel α-1 Subunit Gene, and Calsequestrin-1 Gene Polymorphisms

Novel Ryanodine Receptor Mutation That May Cause Malignant Hyperthermia

Protocol for the Sequence Analysis of Ryanodine Receptor Subtype 1 Gene Transcripts from Human Leukocytes

Detection of a Novel Ryanodine Receptor Subtype 1 Mutation (R328W) in a Malignant Hyperthermia Family by Sequencing of a Leukocyte Transcript

Results of Contracture Tests with Halothane, Caffeine, and Ryanodine Depend on Different Malignant Hyperthermia-associated Ryanodine Receptor Gene Mutations

North American Malignant Hyperthermia Population: Screening of the Ryanodine Receptor Gene and Identification of Novel Mutations

Dantrolene Sodium Can Increase or Attenuate Activity of Skeletal Muscle Ryanodine Receptor Calcium Release Channel: Clinical Implications

Chlorocresol, an Additive to Commercial Succinylcholine, Induces Contracture of Human Malignant Hyperthermia-susceptible Muscles Via Activation of the Ryanodine Receptor Calcium sup 2+ Channel

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