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Referral Indications for Malignant Hyperthermia Susceptibility Diagnostics in Patients without Adverse Anesthetic Events in the Era of Next-generation Sequencing

Luuk R. van den Bersselaar, M.D.,M.Sc., Anna Hellblom, M.D., M.Sc., Mejdan Gashi, B.Sc., Erik-Jan Kamsteeg, Ph.D., Nicol C. Voermans, M.D., Ph.D., Heinz Jungbluth, M.D., Ph.D., Joris de Puydt, M.D., M.Sc., Luc Heytens, M.D., Ph.D., Sheila Riazi, M.D., M.Sc., Marc M. J. Snoeck, M.D., Ph.D.

Anesthesiology. June 2022: 136(6):940–953

DOI: https://doi.org/10.1097/ALN.0000000000004199

Published: June 2022

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Articles

Molecular Modification of Transient Receptor Potential Canonical 6 Channels Modulates Calcium Dyshomeostasis in a Mouse Model Relevant to Malignant Hyperthermia

Jose Rafael Lopez, M.D., Ph.D., Arkady Uryash, M.D., Ph.D., Jose Adams, M.D., Philip M. Hopkins, M.D., F.R.C.A., Paul D. Allen, M.D., Ph.D.

Anesthesiology. February 2021: 134(2):234–247

DOI: https://doi.org/10.1097/ALN.0000000000003635

Published: February 2021

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Articles

Transient Receptor Potential Cation Channels and Calcium Dyshomeostasis in a Mouse Model Relevant to Malignant Hyperthermia

Jose Rafael Lopez, M.D., Ph.D., Vikas Kaura, M.D., Phillip Hopkins, M.D., Xiaochen Liu, Ph.D., Arkady Uryach, M.D., Ph.D., Jose Adams, M.D., Paul D. Allen, M.D., Ph.D

Anesthesiology. August 2020: 133(2):364–376

DOI: https://doi.org/10.1097/ALN.0000000000003387

Published: August 2020

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Articles

An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations

Carlos A. Ibarra Moreno, M.D., Ph.D., Sally Hu, M.D., Natalia Kraeva, Ph.D., Frank Schuster, M.D., Stephan Johannsen, M.D., Henrik Rueffert, M.D., Werner Klingler, M.D., Ph.D., Luc Heytens, M.D., Ph.D., Sheila Riazi, M.Sc., M.D.

Anesthesiology. November 2019: 131(5):983–991

DOI: https://doi.org/10.1097/ALN.0000000000002813

Published: November 2019

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Articles

Malignant Hyperthermia Susceptibility and Related Diseases

Ronald S. Litman, D.O., Sarah M. Griggs, B.S., James J. Dowling, M.D., Ph.D., Sheila Riazi, M.D.

Anesthesiology. January 2018: 128(1):159–167

DOI: https://doi.org/10.1097/ALN.0000000000001877

Published: January 2018

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Articles

Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept

Sheila Riazi, M.Sc., M.D., Natalia Kraeva, Ph.D., Philip M. Hopkins, M.D., F.R.C.A.

Anesthesiology. January 2018: 128(1):168–180

DOI: https://doi.org/10.1097/ALN.0000000000001878

Published: January 2018

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Articles

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

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

Published: November 2013

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Articles

Using Exome Data to Identify Malignant Hyperthermia Susceptibility Mutations

Stephen G. Gonsalves, M.S.N., David Ng, M.D., Jennifer J. Johnston, Ph.D., Jamie K. Teer, Ph.D., Peter D. Stenson, Ph.D., David N. Cooper, Ph.D., James C. Mullikin, Ph.D., Leslie G. Biesecker, M.D.

Anesthesiology. November 2013: 119(5):1043–1053

DOI: https://doi.org/10.1097/ALN.0b013e3182a8a8e7

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

DOI: 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

DOI: 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

DOI: 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

DOI: 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

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

Published: September 2008

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Articles

Malignant Hyperthermia Genetic Testing in North America Working Group Meeting.

Yoshitatsu Sei, M.D., Ph.D., Nyamkhishig Sambuughin, Ph.D., Sheila Muldoon, M.D., David O. Warner, M.D.

Anesthesiology. February 2004: 100(2):464–465

DOI: https://doi.org/10.1097/00000542-200402000-00058

Published: February 2004

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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

DOI: 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

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

Published: August 2003

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Articles

Patients with Malignant Hyperthermia Demonstrate an Altered Calcium Control Mechanism in B Lymphocytes

Yoshitatsu Sei, M.D., Ph.D., Barbara W. Brandom, M.D., Saiid Bina, Ph.D., Eiji Hosoi, Ph.D., Kathleen L. Gallagher, M.S., Hadley W. Wyre, Paul A. Pudimat, M.D., Steve J. Holman, M.D., David J. Venzon, Ph.D., John W. Daly, Ph.D., Sheila Muldoon, M.D.

Anesthesiology. November 2002: 97(5):1052–1058

DOI: https://doi.org/10.1097/00000542-200211000-00005

Published: November 2002

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Articles

Presence of Two Different Genetic Traits in Malignant Hyperthermia Families: Implication for Genetic Analysis, Diagnosis, and Incidence of Malignant Hyperthermia Susceptibility

Nicole Monnier, Ph.D., Renée Krivosic-Horber, M.D., Jean-François Payen, M.D., Ph.D., Geneviève Kozak-Ribbens, M.D., Ph.D., Yves Nivoche, M.D., Pascal Adnet, M.D., Hugo Reyford, M.D., Joël Lunardi, Ph.D.

Anesthesiology. November 2002: 97(5):1067–1074

DOI: https://doi.org/10.1097/00000542-200211000-00007

Published: November 2002

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Articles

Autosomal Dominant Canine Malignant Hyperthermia Is Caused by a Mutation in the Gene Encoding the Skeletal Muscle Calcium Release Channel ( RYR1 )

Monica C. Roberts, B.S., James R. Mickelson, Ph.D., Edward E. Patterson, D.V.M., Thomas E. Nelson, Ph.D., P. Jane Armstrong, M.S., D.V.M., David B. Brunson, D.V.M., M.S., Kirk Hogan, M.D.

Anesthesiology. September 2001: 95(3):716–725

DOI: https://doi.org/10.1097/00000542-200109000-00026

Published: September 2001

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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

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

Published: September 2001

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NARROW

Referral Indications for Malignant Hyperthermia Susceptibility Diagnostics in Patients without Adverse Anesthetic Events in the Era of Next-generation Sequencing

Molecular Modification of Transient Receptor Potential Canonical 6 Channels Modulates Calcium Dyshomeostasis in a Mouse Model Relevant to Malignant Hyperthermia

Transient Receptor Potential Cation Channels and Calcium Dyshomeostasis in a Mouse Model Relevant to Malignant Hyperthermia

An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations

Malignant Hyperthermia Susceptibility and Related Diseases

Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept

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

Using Exome Data to Identify Malignant Hyperthermia Susceptibility Mutations

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

Malignant Hyperthermia Genetic Testing in North America Working Group Meeting.

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

Patients with Malignant Hyperthermia Demonstrate an Altered Calcium Control Mechanism in B Lymphocytes

Presence of Two Different Genetic Traits in Malignant Hyperthermia Families: Implication for Genetic Analysis, Diagnosis, and Incidence of Malignant Hyperthermia Susceptibility

Autosomal Dominant Canine Malignant Hyperthermia Is Caused by a Mutation in the Gene Encoding the Skeletal Muscle Calcium Release Channel ( RYR1 )

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

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