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La ricerca find articoli where soggetti phrase all words 'myophosphorylase' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 37 riferimenti
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    1. Vladutiu, GD
      Heterozygosity: An expanding role in proteomics

      MOLECULAR GENETICS AND METABOLISM
    2. 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
    3. 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
    4. 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
    5. Bruno, C; Bertini, E; Santorelli, FM; DiMauro, S
      HyperCKemia as the only sign of McArdle's disease in a child

      JOURNAL OF CHILD NEUROLOGY
    6. Sabina, RL
      Myoadenylate deaminase deficiency - A common inherited defect with heterogeneous clinical presentation

      NEUROLOGIC CLINICS
    7. Buhrer, C; van Landeghem, F; Bruck, W; Felderhoff-Muser, U; Vorgerd, M; Obladen, M
      Fetal-onset severe skeletal muscle glycogenosis associated with phosphorylase-b kinase deficiency

      NEUROPEDIATRICS
    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. 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
    15. 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
    16. Martinuzzi, A; Schievano, G; Nascimbeni, A; Fanin, M
      McArdle's disease - The unsolved mystery of the reappearing enzyme

      AMERICAN JOURNAL OF PATHOLOGY
    17. DIMAURO S; BRUNO C
      GLYCOGEN-STORAGE DISEASES OF MUSCLE

      Current opinion in neurology
    18. CHANG S; ROSENBERG MJ; MORTON H; FRANCOMANO CA; BIESECKER LG
      IDENTIFICATION OF A MUTATION IN LIVER-GLYCOGEN PHOSPHORYLASE IN GLYCOGEN-STORAGE-DISEASE TYPE-VI

      Human molecular genetics
    19. PHOENIX J; HOPKINS P; BARTRAM C; BEYNON RJ; QUINLIVAN RCM; EDWARDS RHT
      EFFECT OF VITAMIN-B6 SUPPLEMENTATION IN MCARDLES-DISEASE - A STRATEGIC CASE-STUDY

      Neuromuscular disorders
    20. ANDREU AL; BRUNO C; GAMEZ J; SHANSKE S; CERVERA C; NAVARRO C; ARBOS MA; TAMBURINO L; SCHWARTZ S; DIMAURO S
      MOLECULAR-GENETIC ANALYSIS OF MCARDLES-DISEASE IN SPANISH PATIENTS

      Neurology
    21. 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
    22. VISSING J; VISSING SF; MACLEAN DA; SALTIN B; QUISTORFF B; HALLER RG
      SYMPATHETIC ACTIVATION IN EXERCISE IS NOT DEPENDENT ON MUSCLE ACIDOSIS - DIRECT EVIDENCE FROM STUDIES IN METABOLIC MYOPATHIES

      The Journal of clinical investigation
    23. Nishio, T; Sunohara, N; Nonaka, I; Tsujino, S; Sugie, H
      Myophosphorylase deficiency and limb-girdle muscular dystrophy in the samepedigree

      ACTA NEUROLOGICA SCANDINAVICA
    24. RUBIO JC; MARTIN MA; BAUTISTA J; CAMPOS Y; SEGURA D; ARENAS J
      ASSOCIATION OF GENETICALLY PROVEN DEFICIENCIES OF MYOPHOSPHORYLASE AND AMP-DEAMINASE - A 2ND CASE OF DOUBLE TROUBLE

      Neuromuscular disorders
    25. TAN P; ALLEN JG; WILTON SD; AKKARI PA; HUXTABLE CR; LAING NG
      A SPLICE-SITE MUTATION CAUSING OVINE MCARDLES-DISEASE

      Neuromuscular disorders
    26. ELSCHAHAWI M; BRUNO C; TSUJINO S; SARRAZIN AM; SHANSKE S; LEROUX MG; DIMAURO S
      SUDDEN-INFANT-DEATH-SYNDROME (SIDS) IN A FAMILY WITH MYOPHOSPHORYLASEDEFICIENCY

      Neuromuscular disorders
    27. IYENGAR S; KALINSKY H; WEISS S; KOROSTISHEVSKY M; SADEH M; ZHAO Y; KIDD KK; BONNETAMIR B
      HOMOZYGOSITY BY DESCENT FOR A RARE MUTATION IN THE MYOPHOSPHORYLASE GENE IS ASSOCIATED WITH VARIABLE PHENOTYPES IN A DRUZE FAMILY WITH MCARDLE DISEASE

      Journal of Medical Genetics
    28. NICHOLLS DP; CAMPBELL NPS; STEVENSON HP; PATTERSON VH
      ANGINA IN MCARDLES-DISEASE

      HEART
    29. TSUJINO S; SHANSKE S; VALBERG SJ; CARDINET GH; SMITH BP; DIMAURO S
      CLONING OF BOVINE MUSCLE GLYCOGEN-PHOSPHORYLASE CDNA AND IDENTIFICATION OF A MUTATION IN CATTLE WITH MYOPHOSPHORYLASE DEFICIENCY, AN ANIMAL-MODEL FOR MCARDLES-DISEASE

      Neuromuscular disorders
    30. STEELE IC; PATTERSON VH; NICHOLLS DP
      A DOUBLE-BLIND, PLACEBO-CONTROLLED, CROSSOVER TRIAL OF D-RIBOSE IN MCARDLES-DISEASE

      Journal of the neurological sciences
    31. VESTERGAARDPOULSEN P; THOMSEN C; SINKJAER T; HENRIKSEN O
      SIMULTANEOUS P-31-NMR SPECTROSCOPY AND EMG IN EXERCISING AND RECOVERING HUMAN SKELETAL-MUSCLE - A CORRELATION STUDY

      Journal of applied physiology
    32. TSUJINO S; SHANSKE S; CARROLL JE; SABINA RL; DIMAURO S
      DOUBLE TROUBLE - COMBINED MYOPHOSPHORYLASE AND AMP-DEAMINASE DEFICIENCY IN A CHILD HOMOZYGOUS FOR NONSENSE MUTATIONS AT BOTH LOCI

      Neuromuscular disorders
    33. BARTRAM C; EDWARDS RHT; BEYNON RJ
      MCARDLES-DISEASE - MUSCLE GLYCOGEN-PHOSPHORYLASE DEFICIENCY

      Biochimica et biophysica acta. Molecular basis of disease
    34. ANGELOS S; VALBERG SJ; SMITH BP; MCQUARRIE PS; SHANSKE S; TSUJINO S; DIMAURO S; CARDINET GH
      MYOPHOSPHORYLASE DEFICIENCY ASSOCIATED WITH RHABDOMYOLYSIS AND EXERCISE INTOLERANCE IN 6 RELATED CHAROLAIS CATTLE

      Muscle & nerve
    35. SUGIE H; SUGIE Y; ITO M; FUKUDA T; NONAKA I; IGARASHI Y
      GENETIC-ANALYSIS OF JAPANESE PATIENTS WITH MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE) - SINGLE-CODON DELETION IN EXON-17 IS THE PREDOMINANT MUTATION

      Clinica chimica acta
    36. BARTRAM C; EDWARDS RHT; CLAGUE J; BEYNON RJ
      MCARDLES-DISEASE - A RARE FRAMESHIFT MUTATION IN EXON-1 OF THE MUSCLEGLYCOGEN-PHOSPHORYLASE GENE

      Biochimica et biophysica acta. Molecular basis of disease
    37. REICHEL H; JURETSCHKE HP; HUMBURGER F; RIEKE K; MEINCK HM; HORL WH; RITZ E
      ACUTE MYOGLOBINURIC RENAL-FAILURE IN MCARDLES DISEASE - DIAGNOSTIC-SIGNIFICANCE OF P-31-MAGNETIC RESONANCE SPECTROSCOPY

      Deutsche Medizinische Wochenschrift


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/06/20 alle ore 01:54:43