Nyamkhishig Sambuughin

Nyamkhishig Sambuughin

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Nyamkhishig Sambuughin

Nyamkhishig Sambuughin

Publications by authors named "Nyamkhishig Sambuughin"

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Estimating prevalence of malignant hyperthermia susceptibility through population genomics data.

Br J Anaesth 2019 Sep 10;123(3):e461-e463. Epub 2019 Jul 10.

Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bja.2019.06.010DOI Listing
September 2019

Response to Finsterer and Zarrouk-Mahjoub.

Mol Genet Metab Rep 2018 Dec 31;17. Epub 2018 Aug 31.

Consortium for Health and Military Performance, Department of Military and Emergency Medicine, Hébert School of Medicine, Uniformed Services University, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2018.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6120606PMC
December 2018

Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait.

Case Rep Genet 2018 7;2018:6898546. Epub 2018 Nov 7.

Consortium for Health and Military Performance, Department of Military and Emergency Medicine, Hébert School of Medicine, Uniformed Services University, 4301 Jones Bridge Rd., Bethesda, MD 20184, USA.

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http://dx.doi.org/10.1155/2018/6898546DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247656PMC
November 2018

Pathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysis.

Mol Genet Metab Rep 2018 Sep 1;16:76-81. Epub 2018 Aug 1.

Consortium for Health and Military Performance, Department of Military and Emergency Medicine, Uniformed Services University, Bethesda, MD 20814, United States.

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http://dx.doi.org/10.1016/j.ymgmr.2018.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6072915PMC
September 2018

Improving awareness of nonanesthesia-related malignant hyperthermia presentations: a tale of two brothers.

A A Case Rep 2014 Jul;3(2):23-6

From the *Department of Anesthesiology, Walter Reed National Military Medical Center, Bethesda; †DVCIPM, Rockville; ‡Department of Anesthesiology, Uniformed Services University of the Health Sciences; Departments of §Neurosurgery and ‖Neurology, Walter Reed National Military Medical Center, Bethesda, Maryland; ¶Department of Military Medicine, Uniformed Services University of the Health Sciences; and **Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1213/XAA.0000000000000043DOI Listing
July 2014

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.

Neuromuscul Disord 2014 Mar 11;24(3):241-4. Epub 2013 Dec 11.

Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle NE1 3BZ, United Kingdom; Department of Neurology, Royal Victoria Infirmary, Queen Victoria Road, Newcastle NE1 4LP, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2013.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3988992PMC
March 2014

Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia.

J Hum Genet 2013 Apr 31;58(4):226-8. Epub 2013 Jan 31.

Department of Anesthesiology, Uniformed Services University, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/jhg.2012.156DOI Listing
April 2013

Case report: Death in the emergency department: an unrecognized awake malignant hyperthermia-like reaction in a six-year-old.

Anesth Analg 2013 Feb 24;116(2):420-3. Epub 2012 Dec 24.

Office of the District 5 Medical Examiner, Leesburg, Florida, USA.

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http://dx.doi.org/10.1213/ANE.0b013e3182768f99DOI Listing
February 2013

Investigation of the relationship between serum creatine kinase and genetic polymorphisms in military recruits.

Mil Med 2012 Nov;177(11):1359-65

Department of Neurology, Walter Reed National Military Medical Center, 8901 Wisconsin Avenue, Bethesda, MD 20815, USA.

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http://dx.doi.org/10.7205/milmed-d-12-00086DOI Listing
November 2012

KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase.

Biochem Biophys Res Commun 2012 May 20;421(4):743-9. Epub 2012 Apr 20.

Department of Anesthesiology, Uniformed Services University, 4301 Jones Bridge Rd., Bethesda, MD 20814, USA.

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http://dx.doi.org/10.1016/j.bbrc.2012.04.074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5148137PMC
May 2012

Nemaline myopathy type 6: clinical and myopathological features.

Muscle Nerve 2010 Dec;42(6):901-7

Institute of Neuropathology, Pathology Department, IDIBELL-Hospital de Bellvitge and CIBERNED, Hospitalet de Llobregat, Feixa Llarga s/n, Hospitalet de Llobregat, Barcelona 08907, Spain.

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http://dx.doi.org/10.1002/mus.21788DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3057880PMC
December 2010

A protocol comparison for the analysis of heat shock protein A1B +A1538G SNP.

Cell Stress Chaperones 2010 Mar 6;15(2):205-9. Epub 2009 Aug 6.

Department of Military and Emergency Medicine, Uniformed Services University of the Health Sciences, Bethesda, MD, 20184, USA.

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http://dx.doi.org/10.1007/s12192-009-0134-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2866985PMC
March 2010

Trauma, systemic inflammatory response syndrome, dietary supplements, illicit steroid use and a questionable malignant hyperthermia reaction.

Anesth Analg 2009 Mar;108(3):900-3

Uniformed Services University of the Health Sciences, Department of Anesthesiology, 4301 Jones Bridge Rd., Bethesda, MD 20814, USA.

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http://dx.doi.org/10.1213/ane.0b013e31819240a5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2740653PMC
March 2009

Histopathologic progression and a novel mutation in a child with nemaline myopathy.

J Child Neurol 2008 Jul 16;23(7):813-7. Epub 2008 May 16.

Neuromuscular Research Center, Scottsdale, AZ 85258, USA.

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http://dx.doi.org/10.1177/0883073808314363DOI Listing
July 2008

Identification of risk factors for exertional heat illness: a brief commentary on genetic testing.

J Sport Rehabil 2007 Aug;16(3):222-6

Department of Anesthesiology, Uniformed Services University, Bethesda, MD, USA.

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August 2007

Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation.

Int J Cardiol 2007 Apr 4;117(2):244-53. Epub 2006 Aug 4.

Department of Internal Medicine, Hypertension and Angiology, Medical University of Warsaw, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.ijcard.2006.05.019DOI Listing
April 2007

Childhood-onset spastic paraplegia with NIPAL gene mutation.

J Child Neurol 2006 Nov;21(11):974-7

Barrow Neurological Institute, Phoenix, AZ 85013, USA.

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http://dx.doi.org/10.1177/08830738060210111501DOI Listing
November 2006

Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23.

Brain 2006 Sep 15;129(Pt 9):2318-31. Epub 2006 May 15.

National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-9404, USA.

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http://dx.doi.org/10.1093/brain/awl120DOI Listing
September 2006

Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies.

J Neurol Sci 2004 Apr;219(1-2):125-37

Institut de Neuropatologia, Hospital de Bellvitge, C/Feixa Llarga s/n degrees, 08907 Hospitalet de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.jns.2004.01.007DOI Listing
April 2004

Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002.

Anesthesiology 2004 Feb;100(2):464-5

Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/00000542-200402000-00058DOI Listing
February 2004

Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases.

Acta Neuropathol 2003 Jul 1;106(1):1-7. Epub 2003 Apr 1.

Institut de Neuropatologia, Ciutat Sanitària i Universitària de Bellvitge, C/Feixa Llarga s/n masculine, 08907 Hospitalet de Llobregat, Spain.

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http://dx.doi.org/10.1007/s00401-003-0695-0DOI Listing
July 2003

Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.

Neuromuscul Disord 2003 Mar;13(3):252-8

National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 4B37, 10 Central Drive, MSC 1361, Bethesda, MD 20892, USA.

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March 2003

Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene.

Neurology 2003 Feb;60(3):506-8

Division of Neurology, Neuromuscular Diseases Section, Barrow Neurological Institute, Phoenix, AZ 85013, USA.

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http://dx.doi.org/10.1212/01.wnl.0000044048.27971.fcDOI Listing
February 2003