Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease

Por Goldfarb, Lev G., Dalakas, Marinos C.
Publicado em 2009

Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease

Por Goldfarb, Lev G., Dalakas, Marinos C.
Publicado em 2010

Myofibrillar myopathies: new developments

Por Olivé, Montse, Kley, Rudolf A., Goldfarb, Lev G.
Publicado no Curr Opin Neurol (2013)

Intermediate Filament Diseases: Desminopathy

Por Goldfarb, Lev G., Olivé, Montse, Vicart, Patrick, Goebel, Hans H.
Publicado em 2008

Phenotype-genotype studies in kuru: Implications for new variant Creutzfeldt–Jakob disease

Por Cervenáková, Larisa, Goldfarb, Lev G., Garruto, Ralph, Lee, Hee-Suk, Gajdusek, D. Carleton, Brown, Paul
Publicado em 1998

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 em 2014

Kuru: Genes, Cannibals and Neuropathology

Por Liberski, Pawel P., Sikorska, Beata, Lindenbaum, Shirley, Goldfarb, Lev G., McLean, Catriona, Hainfellner, Johannes A., Brown, Paul
Publicado no J Neuropathol Exp Neurol (2012)

Viliuisk encephalomyelitis in Eastern Siberia – analysis of 390 cases: In memory of D Carleton Gajdusek

Por Goldfarb, Lev G, Vladimirtsev, Vsevolod A, Platonov, Fyodor A, Lee, Hee-Suk, McLean, Catriona A, Masters, Colin L
Publicado em 2009

Filamin C-related myopathies: pathology and mechanisms

Por Fürst, Dieter O., Goldfarb, Lev G., Kley, Rudolf A., Vorgerd, Matthias, Olivé, Montse, van der Ven, Peter F. M.
Publicado no Acta Neuropathol (2012)

Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia

Por Tasca, Giorgio, Odgerel, Zagaa, Monforte, Mauro, Aurino, Stefania, Clarke, Nigel F., Waddell, Leigh B., Udd, Bjarne, Ricci, Enzo, Goldfarb, Lev G.
Publicado em 2012

Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations

Por Kley, Rudolf A., van der Ven, Peter F.M., Olivé, Montse, Höhfeld, Jörg, Goldfarb, Lev G., Fürst, Dieter O., Vorgerd, Matthias
Publicado em 2013

Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient

Por Olivé, Montse, Shatunov, Alexey, Gonzalez, Laura, Carmona, Olga, Moreno, Dolores, Quereda, Lidia Gonzalez, Martinez-Matos, J.A., Goldfarb, Lev G., Ferrer, Isidro
Publicado em 2008

Mutational analysis of glycyl-tRNA synthetase (GARS) gene in Hirayama Disease

Por Blumen, Sergiu C., Drory, Vivian E., Sadeh, Menachem, El-Ad, Baruch, Soimu, Uri, Groozman, Galina B., Bouchard, Jean-Pierre, Goldfarb, Lev G.
Publicado em 2010

Nemaline myopathy type 6: clinical and myopathological features

Por Olivé, Montse, Goldfarb, Lev G, Lee, Hee-Suk, Odgerel, Zagaa, Blokhin, Andre, Gonzalez-Mera, Laura, Moreno, Dolores, Laing, Nigel G, Sambuughin, Nyamkhishig
Publicado em 2010

Clinical and Myopathological Characteristics of Desminopathy Caused by a Mutation in Desmin Tail Domain

Por Maddison, Paul, Damian, Maxwell S., Sewry, Caroline, McGorrian, Catherine, Winer, John B., Odgerel, Zagaa, Shatunov, Alexey, Lee, Hee Suk., Goldfarb, Lev G.
Publicado em 2012

Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin

Por Piñol-Ripoll, Gerard, Shatunov, Alexey, Cabello, Ana, Larrodé, Pilar, de la Puerta, Iris, Pelegrín, Juana, Ramos, Feliciano J, Olivé, Montse, Goldfarb, Lev G
Publicado em 2009

Genetic variants in potassium channels are associated with type 2 diabetes in Mongolian population

Por Odgerel, Zagaa, Lee, Hee S, Erdenebileg, Narnygerel, Gandbold, Suren, Luvsanjamba, Munkhjargal, Sambuughin, Nyamkhishig, Sonomtseren, Sainbileg, Sharavdorj, Purevdulam, Jodov, Erdenezul, Altaisaikhan, Khasag, Goldfarb, Lev G
Publicado em 2012

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 em 2013

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

Por Odgerel, Zagaa, Sarkozy, Anna, Lee, Hee-Suk, McKenna, Caoimhe, Rankin, Julia, Straub, Volker, Lochmüller, Hanns, Paola, Francalanci, D’Amico, Adele, Bertini, Enrico, Bushby, Kate, Goldfarb, Lev G
Publicado em 2010

Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1

Por Platonov, Fedor A., Tyryshkin, Kathrin, Tikhonov, Dmitriy G., Neustroyeva, Tatyana S., Sivtseva, Tatyana M., Yakovleva, Natalya V., Nikolaev, Valerian P., Sidorova, Oksana G., Kononova, Sardana K., Goldfarb, Lev G., Renwick, Neil M.
Publicado no Neurogenetics (2016)