Identical de novo Mutation in the Type 1 Ryanodine Receptor Gene Associated with Fatal, Stress-induced Malignant Hyperthermia in Two Unrelated Families
GROOM, Linda, MULDOON, Sheila M, ZHEN ZHI TANG, BRANDOM, Barbara W, BAYARSAIKHAN, Munkhuu, BINA, Saiid, LEE, Hee-Suk, XING QIU, SAMBUUGHIN, Nyamkhishig, DIRKSEN, Robert T
Published in Anesthesiology (Philadelphia) (01.11.2011)
Published in Anesthesiology (Philadelphia) (01.11.2011)
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Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States
Brandom, Barbara W, Bina, Saiid, Wong, Cynthia A, Wallace, Tarina, Visoiu, Mihaela, Isackson, Paul J, Vladutiu, Georgirene D, Sambuughin, Nyamkhishig, Muldoon, Sheila M
Published in Anesthesia and analgesia (01.05.2013)
Published in Anesthesia and analgesia (01.05.2013)
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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
CAPACCHIONE, John F, SAMBUUGHIN, Nyamkhishig, BINA, Saiid, MULLIGAN, Lisa P, LAWSON, Tamara D, MULDOON, Sheila M
Published in Anesthesiology (Philadelphia) (2010)
Published in Anesthesiology (Philadelphia) (2010)
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Genetic polymorphisms associated with exertional rhabdomyolysis
Deuster, Patricia A., Contreras-Sesvold, Carmen L., O’Connor, Francis G., Campbell, William W., Kenney, Kimbra, Capacchione, John F., Landau, Mark E., Muldoon, Sheila M., Rushing, Elisabeth J., Heled, Yuval
Published in European journal of applied physiology (01.08.2013)
Published in European journal of applied physiology (01.08.2013)
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Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference
Riazi, Sheila, Kraeva, Natalia, Muldoon, Sheila M., Dowling, James, Ho, Clara, Petre, Maria-Alexandra, Parness, Jerome, Dirksen, Robert T., Rosenberg, Henry
Published in Canadian journal of anaesthesia = Journal canadien d'anesthesie (01.11.2014)
Published in Canadian journal of anaesthesia = Journal canadien d'anesthesie (01.11.2014)
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Conference Proceeding
Pathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysis
Sambuughin, Nyamkhishig, Mungunsukh, Ognoon, Ren, Mingqiang, Capacchione, John F., Horkayne-Szakaly, Iren, Chuang, Kevin, Muldoon, Sheila M., Smith, Jonathan K., O'Connor, Francis G., Deuster, Patricia A.
Published in Molecular genetics and metabolism reports (01.09.2018)
Published in Molecular genetics and metabolism reports (01.09.2018)
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Round Table on Malignant Hyperthermia in Physically Active Populations: Meeting Proceedings
Hosokawa, Yuri, Casa, Douglas J, Rosenberg, Henry, Capacchione, John F, Sagui, Emmanuel, Riazi, Sheila, Belval, Luke N, Deuster, Patricia A, Jardine, John F, Kavouras, Stavros A, Lee, Elaine C, Miller, Kevin C, Muldoon, Sheila M, O'Connor, Francis G, Sailor, Scott R, Sambuughin, Nyamkhishig, Stearns, Rebecca L, Adams, William M, Huggins, Robert A, Vandermark, Lesley W
Published in Journal of athletic training (01.04.2017)
Published in Journal of athletic training (01.04.2017)
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Conference Proceeding
Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia
Sambuughin, Nyamkhishig, Liu, Xinyue, Bijarnia, Sunita, Wallace, Tarina, Verma, Ishwar C, Hamilton, Susan, Muldoon, Sheila, Tallon, Luke J, Wang, Shuishu
Published in Journal of human genetics (01.04.2013)
Published in Journal of human genetics (01.04.2013)
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Improving awareness of nonanesthesia-related malignant hyperthermia presentations: a tale of two brothers
Potts, Lauren E, Longwell, Jason J, Bedocs, Peter, Sambuughin, Nyamkhishig, Bina, Saiid, Cooper, Patrick B, Carroll, Craig G, O'Connor, Francis, Deuster, Patricia, Muldoon, Sheila M, Hamilton, Susan, Capacchione, John F
Published in A & A case reports (15.07.2014)
Published in A & A case reports (15.07.2014)
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Malignant hyperthermia in North America: Genetic screening of the three hot spots in the type I ryanodine receptor gene
SEI, Yoshitatsu, SAMBUUGHIN, Nyamkhishig N, DAVIS, Edward J, SACHS, Daniel, CUENCA, Phil B, BRANDOM, Barbara W, TAUTZ, Timothy, ROSENBERG, Henry, NELSON, Thomas E, MULDOON, Sheila M
Published in Anesthesiology (Philadelphia) (01.10.2004)
Published in Anesthesiology (Philadelphia) (01.10.2004)
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Trauma, Systemic Inflammatory Response Syndrome, Dietary Supplements, Illicit Steroid Use and a Questionable Malignant Hyperthermia Reaction
CAPACCHIONE, John F, RADIMER, Matthew C, SAGEL, Jeffrey S, KRAUS, Gregory P, SAMBUUGHIN, Nyamkhishig, MULDOON, Sheila M
Published in Anesthesia and analgesia (01.03.2009)
Published in Anesthesia and analgesia (01.03.2009)
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Genetic testing for malignant hyperthermia in North America
Nelson, Thomas E, Rosenberg, Henry, Muldoon, Sheila M
Published in Anesthesiology (Philadelphia) (01.02.2004)
Published in Anesthesiology (Philadelphia) (01.02.2004)
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XXIVth Annual Meeting of the European Malignant Hyperthermia Group
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Conference Proceeding
North American malignant hyperthermia population: Screening of the ryanodine receptor gene and identification of novel mutations
SAMBUUGHIN, Nyamkhishig, SEI, Yoshitatsu, GALLAGHER, Kathleen L, WYRE, Hadley W, MADSEN, Daniel, NELSON, Thomas E, FLETCHER, Jeffrey E, ROSENBERG, Henry, MULDOON, Sheila M
Published in Anesthesiology (Philadelphia) (01.09.2001)
Published in Anesthesiology (Philadelphia) (01.09.2001)
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A clinical grading scale to predict malignant hyperthermia susceptibility
Larach, M G, Localio, A R, Allen, G C, Denborough, M A, Ellis, F R, Gronert, G A, Kaplan, R F, Muldoon, S M, Nelson, T E, Ording, H
Published in Anesthesiology (Philadelphia) (01.04.1994)
Published in Anesthesiology (Philadelphia) (01.04.1994)
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