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

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

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

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

Family Clustering of Viliuisk Encephalomyelitis in Traditional and New Geographic Regions

por Vladimirtsev, Vsevolod A., Nikitina, Raisa S., Renwick, Neil, Ivanova, Anastasia A., Danilova, Al’bina P., Platonov, Fyodor A., Krivoshapkin, Vadim G., McLean, Catriona A., Masters, Colin L., Gajdusek, D. Carleton, Goldfarb, Lev G.
Publicado 2007

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

por 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
Publicado 2015