Desmin myopathy von Goldfarb, L. G., Vicart, P., Goebel, H. H., Dalakas, M. C.

Volltext

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins von Muntoni, F., Bonne, G., Goldfarb, L. G., Mercuri, E., Piercy, R. J., Burke, M., Yaou, R. Ben, Richard, P., Récan, D., Shatunov, A., Sewry, C. A., Brown, S. C.

Volltext

New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses von Maerkens, A, Olivé, M, Schreiner, A, Feldkirchner, S, Schessl, J, Uszkoreit, J, Barkovits, K, Güttsches, A K, Theis, V, Eisenacher, M, Tegenthoff, M, Goldfarb, L G, Schröder, R, Schoser, B, van der Ven, P F M, Fürst, D O, Vorgerd, M, Marcus, K, Kley, R A

Volltext

T cell receptor profiling in muscle and blood lymphocytes in sporadic inclusion body myositis von SALAJEGHEH, M, RAKOCEVIC, G, RAJU, R, SHATUNOV, A, GOLDFARB, L. G, DALAKAS, M. C

Volltext

Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene von Dalakas, Marinos C, Park, Kye-Yoon, Semino-Mora, Cristina, Lee, Hee Suk, Sivakumar, Kumaraswamy, Goldfarb, Lev G

Volltext

Missense mutations in desmin associated with familial cardiac and skeletal myopathy von Goldfarb, Lev G, Park, Kye-Yoon, Cervenáková, Larisa, Gorokhova, Svetlana, Lee, Hee-Suk, Vasconcelos, Olavo, Nagle, James W, Semino-Mora, Christina, Sivakumar, Kumaraswamy, Dalakas, Marinos C

Volltext

Human spongiform encephalopathy: The national institutes of health series of 300 cases of experimentally transmitted disease von Brown, Paul, Gibbs Jr, C. J., Rodgers-Johnson, Pamela, Asher, David M., Sulima, Michael P., Bacote, Alfred, Goldfarb, Lev G., Gajdusek, D. Carleton

Volltext

Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy von Maerkens, A., Kley, R.A., Olivé, M., Theis, V., van der Ven, P.F.M., Reimann, J., Milting, H., Schreiner, A., Uszkoreit, J., Eisenacher, M., Barkovits, K., Güttsches, A.K., Tonillo, J., Kuhlmann, K., Meyer, H.E., Schröder, R., Tegenthoff, M., Fürst, D.O., Müller, T., Goldfarb, L.G., Vorgerd, M., Marcus, K.

Volltext

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease von Altarescu, GM, Goldfarb, LG, Park, K-Y, Kaneski, C, Jeffries, N, Litvak, S, Nagle, JW, Schiffmann, R

Volltext

A simple and efficient method for apolipoprotein E genotype determination von CHAPMAN, J, ESTUPINAN, J, ASHEROV, A, GOLDFARB, L. G

Volltext

Inherited prion encephalopathy associated with the novel PRNP H187R mutation : A clinical study von BÜTEFISCH, C. M, GAMBETTI, P, CERVENAKOVA, L, PARK, K.-Y, HALLETT, M, GOLDFARB, L. G

Volltext

Fatal Familial Insomnia and Familial Creutzfeldt-Jakob Disease: Different Prion Proteins Determined by a DNA Polymorphism von Monari, Lucia, Chen, Shu G., Brown, Paul, Parchi, Piero, Petersen, Robert B., Mikol, Jacqueline, Gray, Franscoise, Cortelli, Pietro, Montagna, Pasquale, Ghetti, Bernardino, Goldfarb, Lev G., Gajdusek, D. Carleton, Lugaresi, Elio, Gambetti, Pierluigi, Autilio-Gambetti, Lucila

Volltext

Desmin splice variants causing cardiac and skeletal myopathy von Park, Kye-Yoon, Dalakas, Marinos C, Goebel, Hans H, Ferrans, Victor J, Semino-Mora, Christina, Litvak, Svetlana, Takeda, Kazuyo, Goldfarb, Lev G

Volltext

Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1 von Goldfarb, L. G, Vasconcelos, O., Platonov, F. A., Lunkes, A., Kipnis, V., Kononova, S., Chabrashvili, T., Vladimirtsev, V. A., Alexeev, V. P., Gajdusek, D. C.

Volltext

Ancestral Origins and Worldwide Distribution of the PRNP 200K Mutation Causing Familial Creutzfeldt-Jakob Disease von Lee, Hee Suk, Sambuughin, Nyamkhishig, Cervenakova, Larisa, Chapman, Joab, Pocchiari, Maurizio, Litvak, Svetlana, Qi, Hai Yan, Budka, Herbert, del Ser, Teodoro, Furukawa, Hisako, Brown, Paul, Gajdusek, D. Carleton, Long, Jeffrey C., Korczyn, Amos D., Goldfarb, Lev G.

Volltext

Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease von Shatunov, A, Fridman, EA, Pagan, FI, Leib, J, Singleton, A, Hallett, M, Goldfarb, LG

Volltext

The new biology of spongiform encephalopathy: infectious amyloidoses with a genetic twist von Brown, P., Goldfarb, L.G., Carleton Gajdusek, D.

Volltext

The transmissible spongiform encephalopathies von GOLDFARB, L. G, BROWN, P

Volltext

Clinical and genetic studies of fatal familial insomnia von REDER, A. T, MEDNICK, A. S, GAJDUSEK, D. C, ROOS, R. P, BROWN, P, SPIRE, J. P, VAN CAUTER, E, WOLLMANN, R. L, CERVENAKOVA, L, GOLDFARB, L. G, GARAY, A, OVSIEW, F

Volltext

Creutzfeldt-Jakob disease in a husband and wife von BROWN, P, CERVENAKOVA, L, MCSHANE, L, GOLDFARB, L. G, BISHOP, K, BASTIAN, F, KIRKPATRICK, J, PICCARDO, P, GHETTI, B, GAJDUSEK, D. C

Volltext