检索结果 - Lev G. Goldfarb

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  1. 1
    Desmin myopathy

    Desmin myopathy 由 Lev G. Goldfarb

    出版 2004
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  2. 2
    Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease

    Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease 由 Lev G. Goldfarb, Marinos C. Dalakas

    出版 2009
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  3. 3
    Myofibrillar myopathies

    Myofibrillar myopathies 由 Montse Olivé, Rudolf A. Kley, Lev G. Goldfarb

    出版 2013
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  4. 4
    Intermediate Filament Diseases: Desminopathy

    Intermediate Filament Diseases: Desminopathy 由 Lev G. Goldfarb, Montse Olivé, Patrick Vicart, Hans H. Goebel

    出版 2008
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  5. 5
    Myotilinopathy: refining the clinical and myopathological phenotype

    Myotilinopathy: refining the clinical and myopathological phenotype 由 Montse Olivé, Lev G. Goldfarb, Aleksey Shatunov, Dirk Fischer, Isidró Ferrer

    出版 2005
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  6. 6
    Phenotype-genotype studies in kuru: Implications for new variant Creutzfeldt–Jakob disease

    Phenotype-genotype studies in kuru: Implications for new variant Creutzfeldt–Jakob disease 由 Larisa Červen̆áková, Lev G. Goldfarb, Ralph M. Garruto, Hee-Suk Lee, D. Carleton Gajdusek, Paul S. Brown

    出版 1998
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  7. 7
    Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene

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

    出版 2000
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  8. 8
    Kuru

    Kuru 由 Paweł P. Liberski, Beata Sikorska, Shirley Lindenbaum, Lev G. Goldfarb, Catriona McLean, Johannes A. Hainfellner, Paul Brown

    出版 2012
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  9. 9
    Filamin C-related myopathies: pathology and mechanisms

    Filamin C-related myopathies: pathology and mechanisms 由 Dieter O. Fürst, Lev G. Goldfarb, Rudolf A. Kley, Matthias Vorgerd, Montse Olivé, Peter F. M. van der Ven

    出版 2012
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  10. 10
    Increased Susceptibility to Kuru of Carriers of the<i>PRNP</i>129 Methionine/Methionine Genotype

    Increased Susceptibility to Kuru of Carriers of the<i>PRNP</i>129 Methionine/Methionine Genotype 由 Hee‐Suk Lee, Paul Brown, Larisa Červen̆áková, Ralph M. Garruto, Michael P. Alpers, D. Carleton Gajdusek, Lev G. Goldfarb

    出版 2001
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  11. 11
    Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin

    Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin 由 Gerard Piñol‐Ripoll, Aleksey Shatunov, Ana Cabello, P Larrodé, Iris de la Puerta, Juana Pelegrín, Feliciano J. Ramos, Montse Olivé, Lev G. Goldfarb

    出版 2009
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  12. 12
    Screening of the Entire Ryanodine Receptor Type 1 Coding Region for Sequence Variants Associated with Malignant Hyperthermia Susceptibility in the North American Population

    Screening of the Entire Ryanodine Receptor Type 1 Coding Region for Sequence Variants Associated with Malignant Hyperthermia Susceptibility in the North American Population 由 Nyamkhishig Sambuughin, Heather Holley, Sheila M. Muldoon, Barbara W. Brandom, Astrid M. de Bantel, Joseph R. Tobin, Tom E. Nelson, Lev G. Goldfarb

    出版 2005
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  13. 13
    Allelic variation at alcohol metabolism genes ( ADH1B , ADH1C , ALDH2 ) and alcohol dependence in an American Indian population

    Allelic variation at alcohol metabolism genes ( ADH1B , ADH1C , ALDH2 ) and alcohol dependence in an American Indian population 由 Connie J. Mulligan, Robert W. Robin, Michael V. Osier, Nyamkhishig Sambuughin, Lev G. Goldfarb, Rick A. Kittles, Diane R. Hesselbrock, David Goldman, Jeffrey C. Long

    出版 2003
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  14. 14
    Functional Analyses of Glycyl-tRNA Synthetase Mutations Suggest a Key Role for tRNA-Charging Enzymes in Peripheral Axons

    Functional Analyses of Glycyl-tRNA Synthetase Mutations Suggest a Key Role for tRNA-Charging Enzymes in Peripheral Axons 由 Anthony Antonellis, Shih-Queen Lee-Lin, Amy S. Wasterlain, Paul Leo, Martha Quezado, Lev G. Goldfarb, Kyungjae Myung, Shawn M. Burgess, Kenneth H. Fischbeck, Eric D. Green

    出版 2006
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  15. 15
    Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene.

    Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. 由 Lev G. Goldfarb, Paul Brown, W. Richard McCombie, Dmitry Goldgaber, Gary D. Swergold, Peter R. Wills, Larisa Červen̆áková, H Baron, Clarence J. Gibbs, D. Carleton Gajdusek

    出版 1991
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  16. 16
    Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins

    Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins 由 Francesco Muntoni, Gisèle Bonne, Lev G. Goldfarb, Eugenio Mercuri, Richard J. Piercy, Margaret Burke, Rabah Ben Yaou, Pascale Richard, Dominique Récan, Aleksey Shatunov, Caroline A. Sewry, S. Brown

    出版 2006
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  17. 17
    Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

    Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation 由 Zagaa Odgerel, Anna Sárközy, Hee-Suk Lee, Caoimhe McKenna, Julia Rankin, Volker Straub, Hanns Lochmüller, Paola Francalanci, Adele D’Amico, Enrico Bertini, Kate Bushby, Lev G. Goldfarb

    出版 2010
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  18. 18
    Natural History of Fabry Renal Disease

    Natural History of Fabry Renal Disease 由 Mary H. Branton, Raphael Schiffmann, Sharda G. Sabnis, Gary J. Murray, Jane M. Quirk, Gheona Altarescu, Lev G. Goldfarb, Roscoe O. Brady, James E. Balow, Howard A. Austin, Jeffrey B. Kopp

    出版 2002
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  19. 19
    Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies

    Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies 由 Harald Bär, Bertrand Goudeau, Sarah Wälde, Monique Casteras-Simon, Norbert Mücke, Aleksey Shatunov, Y. Paul Goldberg, Charles Clarke, Janice L. Holton, B. Eymard, Hugo A. Katus, Michel Fardeau, Lev G. Goldfarb, Patrick Vicart, Harald Herrmann

    出版 2007
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  20. 20
    Ancestral Origins and Worldwide Distribution of the PRNP 200K Mutation Causing Familial Creutzfeldt-Jakob Disease

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

    出版 1999
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