Myotilinopathy: refining the clinical and myopathological phenotype von Olivé, Montse, Goldfarb, Lev G., Shatunov, Alexey, Fischer, Dirk, Ferrer, Isidro

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

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Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V von Antonellis, Anthony, Ellsworth, Rachel E., Sambuughin, Nyamkhishig, Puls, Imke, Abel, Annette, Lee-Lin, Shih-Queen, Jordanova, Albena, Kremensky, Ivo, Christodoulou, Kyproula, Middleton, Lefkos T., Sivakumar, Kumaraswamy, Ionasescu, Victor, Funalot, Benoit, Vance, Jeffery M., Goldfarb, Lev G., Fischbeck, Kenneth H., Green, Eric D.

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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

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Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with Malignant hyperthermia susceptibility in the North American Population von SAMBUUGHIN, Nyamkhishig, HOLLEY, Heather, MULDOON, Sheila, BRANDOM, Barbara W, DE BANTEL, Astrid M, TOBIN, Joseph R, NELSON, Tom E, GOLDFARB, Lev G

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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.

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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

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Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations von Sivakumar, Kumaraswamy, Kyriakides, Theodoros, Puls, Imke, Nicholson, Garth A., Funalot, Benoît, Antonellis, Anthony, Sambuughin, Nyamkhishig, Christodoulou, Kyproula, Beggs, John L., Zamba-Papanicolaou, Eleni, Ionasescu, Victor, Dalakas, Marinos C., Green, Eric D., Fischbeck, Kenneth H., Goldfarb, Lev G.

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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

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Identical mutation in unrelated patients with Creutzfeldt-Jakob disease von Goldfarb, LevG, Brown, Paul, Goldgaber, Dmitry, Garruto, RalphM, Yanagihara, Richard, Asher, DavidM, Carleton Gajdusek, D

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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

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Allelic variation at alcohol metabolism genes (ADH1B, ADH1C, ALDH2) and alcohol dependence in an American Indian population von MULLIGAN, Connie J, ROBIN, Robert W, OSIER, Michael V, SAMBUUGHIN, Nyamkhishig, GOLDFARB, Lev G, KITTLES, Rick A, HESSELBROCK, Diane, GOLDMAN, David, LONG, Jeffrey C

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Increased Susceptibility to Kuru of Carriers of the PRNP 129 Methionine/Methionine Genotype von Lee, Hee-Suk, Brown, Paul, Cervenáková, Larisa, Garruto, Ralph M., Alpers, Michael P., Gajdusek, D. Carleton, Goldfarb, Lev G.

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Phenotype-Genotype Studies in Kuru: Implications for New Variant Creutzfeldt-Jakob Disease von Cervenakova, Larisa, Goldfarb, Lev G., Garruto, Ralph, Lee, Hee-Suk, Gajdusek, D. Carleton, Brown, Paul

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Variable pathogenic potentials of mutations located in the desmin alpha-helical domain von Goudeau, Bertrand, Rodrigues-Lima, Fernando, Fischer, Dirk, Casteras-Simon, Monique, Sambuughin, Nyamkhishig, de Visser, Marianne, Laforet, Pascal, Ferrer, Xavier, Chapon, Françoise, Sjöberg, Gunnar, Kostareva, Anna, Sejersen, Thomas, Dalakas, Marinos C., Goldfarb, Lev G., Vicart, Patrick

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The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation von Vrabie, Alexandra, Goldfarb, Lev G, Shatunov, Alexey, Nägele, Andrea, Fritz, Peter, Kaczmarek, Ingo, Goebel, Hans H

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Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy von Kaminska, Anna, Strelkov, Sergei V, Goudeau, Bertrand, Olivé, Montse, Dagvadorj, Ayush, Fidzianska, Anna, Simon-Casteras, Monique, Shatunov, Alexey, Dalakas, Marinos C, Ferrer, Isidro, Kwiecinski, Hubert, Vicart, Patrick, Goldfarb, Lev G

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Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis von Dobson-Stone, C, Danek, A, Rampoldi, L, Hardie, R J, Chalmers, R M, Wood, N W, Bohlega, S, Dotti, M T, Federico, A, Shizuka, M, Tanaka, M, Watanabe, M, Ikeda, Y, Brin, M, Goldfarb, L G, Karp, B I, Mohiddin, S, Fananapazir, L, Storch, A, Fryer, A E, Maddison, P, Sibon, I, Trevisol-Bittencourt, P C, Singer, C, Caballero, I R, Aasly, J O, Schmierer, K, Dengler, R, Hiersemenzel, L-P, Zeviani, M, Meiner, V, Lossos, A, Johnson, S, Mercado, F C, Sorrentino, G, Dupré, N, Rouleau, G A, Volkmann, J, Arpa, J, Lees, A, Geraud, G, Chouinard, S, Németh, A, Monaco, A P

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Giant Right Atrium in the Setting of Desmin-Related Restrictive Cardiomyopathy von Hager, Stefan, Mahrholdt, Heiko, Goldfarb, Lev G., Goebel, Hans H., Sechtem, Udo

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Kuru: the old epidemic in a new mirror von Goldfarb, Lev G.

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