Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
Sambuughin, Nyamkhishig, Yau, Kyle S., Olivé, Montse, Duff, Rachael M., Bayarsaikhan, Munkhuu, Lu, Shajia, Gonzalez-Mera, Laura, Sivadorai, Padma, Nowak, Kristen J., Ravenscroft, Gianina, Mastaglia, Frank L., North, Kathryn N., Ilkovski, Biljana, Kremer, Hannie, Lammens, Martin, van Engelen, Baziel G.M., Fabian, Vicki, Lamont, Phillipa, Davis, Mark R., Laing, Nigel G., Goldfarb, Lev G.
Published in American journal of human genetics (10.12.2010)
Published in American journal of human genetics (10.12.2010)
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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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In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy
SHATUNOV, Alexey, OLIVE, Montse, STRAUB, Volker, HILTON-JONES, David, DAMIAN, Maxwell S, KAMINSKA, Anna, VICART, Patrick, BUSHBY, Kate, DALAKAS, Marinos C, SAMBUUGHIN, Nyamkhishig, FERRER, Isidro, GOEBEL, Hans H, ODGEREL, Zagaa, GOLDFARB, Lev G, STADELMANN-NESSLER, Christine, IRLBACHER, Kerstin, VAN LANDEGHEM, Frank, BAYARSAIKHAN, Munkhuu, LEE, Hee-Suk, GOUDEAU, Bertrand, CHINNERY, Patrick F
Published in European journal of human genetics : EJHG (01.05.2009)
Published in European journal of human genetics : EJHG (01.05.2009)
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The Functional Impact of Cis Acting Ryanodine Receptor Type 1 Mutations in a Child with a Fatal Spontaneous MH Event
Groom, Linda, Muldoon, Sheila, Bayarsaikhan, Munkhuu, Bina, Saiid, Lee, Hee-Suk, Brandom, Barbara W., Sambuughin, Nyamkhishig, Dirksen, Robert T.
Published in Biophysical journal (01.02.2011)
Published in Biophysical journal (01.02.2011)
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Journal Article
Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
Sambuughin, Nyamkhishig, Yau, Kyle S., Olivé, Montse, Duff, Rachael M., Bayarsaikhan, Munkhuu, Lu, Shajia, Gonzalez-Mera, Laura, Sivadorai, Padma, Nowak, Kristen J., Ravenscroft, Gianina, Mastaglia, Frank L., North, Kathryn N., Ilkovski, Biljana, Kremer, Hannie, Lammens, Martin, van Engelen, Baziel G.M., Fabian, Vicki, Lamont, Phillipa, Davis, Mark R., Laing, Nigel G., Goldfarb, Lev G.
Published in American journal of human genetics (07.01.2011)
Published in American journal of human genetics (07.01.2011)
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Regulation of N-cadherin-based cell–cell interaction by JSAP1 scaffold in PC12h cells
Bayarsaikhan, Munkhuu, Takino, Takahisa, Gantulga, Davaakhuu, Sato, Hiroshi, Ito, Takashi, Yoshioka, Katsuji
Published in Biochemical and biophysical research communications (09.02.2007)
Published in Biochemical and biophysical research communications (09.02.2007)
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