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

by Pfeffer, Gerald, Sambuughin, Nyamkhishig, Olivé, Montse, Tyndel, Felix, Toro, Camilo, Goldfarb, Lev G., Chinnery, Patrick F.
Published 2014

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

by Toro, Camilo, Olivé, Montse, Dalakas, Marinos C, Sivakumar, Kumaraswami, Bilbao, Juan M, Tyndel, Felix, Vidal, Noemí, Farrero, Eva, Sambuughin, Nyamkhishig, Goldfarb, Lev G
Published 2013

Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility

by Sambuughin, Nyamkhishig, Zvaritch, Elena, Kraeva, Natasha, Sizova, Olga, Sivak, Erica, Dickson, Kelley, Weglinski, Margaret, Capacchione, John, Muldoon, Sheila, Riazi, Sheila, Hamilton, Susan, Brandom, Barbara, MacLennan, David H
Published 2014

Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2

by Sambuughin, Nyamkhishig, Goldfarb, Lev G., Sivtseva, Tatiana M., Davydova, Tatiana K., Vladimirtsev, Vsevolod A., Osakovskiy, Vladimir L., Danilova, Al’bina P., Nikitina, Raisa S., Ylakhova, Anastasia N., Diachkovskaya, Margarita P., Sundborger, Anna C., Renwick, Neil M., Platonov, Fyodor A., Hinshaw, Jenny E., Toro, Camilo
Published 2015