نتائج البحث - Lev G. Goldfarb
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Myofibrillar myopathies حسب Montse Olivé, Rudolf A. Kley, Lev G. Goldfarb
منشور في 2013Revisão -
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Intermediate Filament Diseases: Desminopathy حسب Lev G. Goldfarb, Montse Olivé, Patrick Vicart, Hans H. Goebel
منشور في 2008Artigo -
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Kuru حسب Paweł P. Liberski, Beata Sikorska, Shirley Lindenbaum, Lev G. Goldfarb, Catriona McLean, Johannes A. Hainfellner, Paul Brown
منشور في 2012Revisão -
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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 حسب Nyamkhishig Sambuughin, Heather Holley, Sheila M. Muldoon, Barbara W. Brandom, Astrid M. de Bantel, Joseph R. Tobin, Tom E. Nelson, Lev G. Goldfarb
منشور في 2005Artigo -
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Allelic variation at alcohol metabolism genes ( ADH1B , ADH1C , ALDH2 ) and alcohol dependence in an American Indian population حسب 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
منشور في 2003Artigo -
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Functional Analyses of Glycyl-tRNA Synthetase Mutations Suggest a Key Role for tRNA-Charging Enzymes in Peripheral Axons حسب 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
منشور في 2006Artigo -
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Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. حسب 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
منشور في 1991Artigo -
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Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins حسب 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
منشور في 2006Artigo -
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Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation حسب 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
منشور في 2010Artigo -
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Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies حسب 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
منشور في 2007Artigo -
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Ancestral Origins and Worldwide Distribution of the PRNP 200K Mutation Causing Familial Creutzfeldt-Jakob Disease حسب 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
منشور في 1999Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Genetics
Gene
Medicine
Pathology
Myopathy
Mutation
Internal medicine
Myofibril
Cell
Desmin
Immunohistochemistry
Vimentin
Anatomy
Cytoskeleton
Disease
Phenotype
Heart failure
Molecular biology
Biochemistry
Cardiomyopathy
Intermediate filament
Skeletal muscle
Virology
Cell biology
Immunology
PRNP
Prion protein
Protein aggregation
Weakness