Showing 1 - 6 results of 6 for search 'Salvatore Di Mauro', query time: 0.03s Refine Results
  1. 1
    Deficiência muscular de carnitina: relato de 8 casos com estudo clínico, eletromiográfico, histoquímico e bioquímico muscular

    Deficiência muscular de carnitina: relato de 8 casos com estudo clínico, eletromiográfico, histoquímico e bioquímico muscular by Lineu Cesar Werneck, Salvatore Di Mauro

    Published 1985-09-01
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  2. 2
    Miopatia por deficiência de carnitina-palmitil-transferase: relato de 2 casos com dosagens enzimáticas no tecido muscular

    Miopatia por deficiência de carnitina-palmitil-transferase: relato de 2 casos com dosagens enzimáticas no tecido muscular by Lineu Cesar Werneck, Carlos Alberto de Almeida Boer, Alexandros Papadimitriou, Salvatore Di Mauro

    Published 1983-12-01
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  3. 3
    Microanalysis of cardiolipin in small biopsies including skeletal muscle from patients with mitochondrial disease

    Microanalysis of cardiolipin in small biopsies including skeletal muscle from patients with mitochondrial disease by Michael Schlame, Sara Shanske, Steven Doty, Thomas König, Thomas Sculco, Salvatore DiMauro, Thomas J.J. Blanck

    Published 1999-09-01
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  4. 4
    A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck.

    A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck. by Francesco Pallotti, Giorgio Binelli, Raffaella Fabbri, Maria L Valentino, Rossella Vicenti, Maria Macciocca, Sabina Cevoli, Agostino Baruzzi, Salvatore DiMauro, Valerio Carelli

    Published 2014-01-01
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  5. 5
    Visual memory failure presages conversion to MELAS phenotype

    Visual memory failure presages conversion to MELAS phenotype by Emily B. Leaffer, Darryl C. De Vivo, Kristin Engelstad, Robert H. Fryer, Yian Gu, Dikoma C. Shungu, Michio Hirano, Salvatore DiMauro, Veronica J. Hinton

    Published 2022-06-01
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  6. 6
    Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy.

    Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy. by Karen M Vernau, Jonathan A Runstadler, Emily A Brown, Jessie M Cameron, Heather J Huson, Robert J Higgins, Cameron Ackerley, Beverly K Sturges, Peter J Dickinson, Birgit Puschner, Cecilia Giulivi, G Diane Shelton, Brian H Robinson, Salvatore DiMauro, Andrew W Bollen, Danika L Bannasch

    Published 2013-01-01
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