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La ricerca find articoli where soggetti phrase all words 'McArdle''s disease' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 18 riferimenti
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    1. Lofberg, M; Lindholm, H; Naveri, H; Majander, A; Suomalainen, A; Paetau, A; Sovijarvi, A; Harkonen, M; Somer, H
      ATP, phosphocreatine and lactate in exercising muscle in mitochondrial disease and McArdle's disease

      NEUROMUSCULAR DISORDERS
    2. Horneff, G; Paetzke, I; Neuen-Jacob, E
      Glycogenosis type V (McArdle's diseass) mimicking atypical myositis

      CLINICAL RHEUMATOLOGY
    3. Aguilera, I; Garcia-Lozano, JR; Munoz, A; Arenas, J; Campos, Y; Chinchon, I; Roldan, AN; Bautista, J
      Mitochondrial DNA point mutation in the COI gene in a patient with McArdle's disease

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    4. Martin, MA; Rubio, JC; Garcia, A; Fernandez, MA; Campos, Y; Krawczak, M; Cooper, DN; Arenas, J
      Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease

      CLINICAL GENETICS
    5. Aasly, J; van Diggelen, OP; Boer, AM; Bronstad, G
      Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms

      EUROPEAN JOURNAL OF NEUROLOGY
    6. Martin, MA; Rubio, JC; Campos, Y; Ricoy, JR; Cabello, A; Arenas, J
      A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease

      NEUROMUSCULAR DISORDERS
    7. Rubio, JC; Martin, MA; Campos, Y; Cabello, A; Arenas, J
      A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease

      NEUROMUSCULAR DISORDERS
    8. Rubio, JC; Martin, MA; Del Hoyo, P; Bautista, J; Campos, Y; Segura, D; Navarro, C; Ricoy, JR; Cabello, A; Arenas, J
      Molecular analysis of Spanish patients with AMP deaminase deficiency

      MUSCLE & NERVE
    9. Wolfe, GI; Baker, NS; Haller, RG; Burns, DK; Barohn, RJ
      McArdle's disease presenting with asymmetric, late-onset arm weakness

      MUSCLE & NERVE
    10. Rubio, JC; Martin, MA; Campos, Y; Auciello, R; Cabello, A; Arenas, J
      A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease

      MUSCLE & NERVE
    11. Andreu, AL; Bruno, C; Tamburino, L; Gamez, J; Shanske, S; Cervera, C; Navarro, C; DiMauro, S
      New mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patientwith McArdle's disease

      NEUROMUSCULAR DISORDERS
    12. Rubio, JC; Martin, MA; Garcia, A; Campos, Y; Cabello, A; Culebras, JM; Arenas, J
      McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient

      NEUROMUSCULAR DISORDERS
    13. Bruno, C; Tamburino, L; Kawashima, N; Andreu, AL; Shanske, S; Hadjigeorgiou, GM; Kawashima, A; DiMauro, S
      A nonsense mutation in the myophosphorylase gene in a Japanese family withMcArdle's disease

      NEUROMUSCULAR DISORDERS
    14. Lin, HC; Young, C; Wang, PJ; Shen, YZ
      Muscle phosphofructokinase deficiency (Tarui's disease): Report of a case

      JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
    15. Gamez, J; Fernandez, R; Bruno, C; Andreu, AL; Cervera, C; Navarro, C; Schwartz, S; DiMauro, S
      A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact

      MUSCLE & NERVE
    16. Pari, G; Crerar, MM; Nalbantoglu, J; Shoubridge, E; Jani, A; Tsujino, S; Shanske, S; DiMauro, S; Howell, JM; Karpati, G
      Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro

      NEUROLOGY
    17. Bruno, C; Lofberg, M; Tamburino, L; Jankala, H; Hadjigeorgiou, GM; Andreu, AL; Shanske, S; Somer, H; DiMauro, S
      Molecular characterization of McArdle's disease in two large Finnish families

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    18. Rubio, JC; Martin, MA; Bautista, J; Campos, Y; Segura, D; Cabello, A; Chinchon, I; Arenas, J
      Myophosphorylase deficiency associated with a defect in complex I of the mitochondrial respiratory chain

      JOURNAL OF THE NEUROLOGICAL SCIENCES


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Documento generato il 28/05/20 alle ore 18:11:32