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La ricerca find articoli where authors phrase all words 'Rubio, JC' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 29 riferimenti
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    1. Campos, Y; Gamez, J; Garcia, A; Andreu, AL; Rubio, JC; Martin, MA; del Hoyo, P; Navarro, C; Cervera, C; Garesse, R; Arenas, J
      A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy

      NEUROMUSCULAR DISORDERS
    2. Martin, MA; Rubio, JC; Buchbinder, J; Fernandez-Hojas, R; del Hoyo, P; Teijeira, S; Gamez, J; Navarro, C; Fernandez, JM; Cabello, A; Campos, Y; Cervera, C; Culebras, JM; Andreu, AL; Fletterick, R; Arenas, J
      Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): A genotype-phenotype correlation study

      ANNALS OF NEUROLOGY
    3. Campos, Y; Garcia-Redondo, A; Fernandez-Moreno, MA; Martinez-Pardo, M; Goda, G; Rubio, JC; Martin, MA; del Hoyo, P; Cabello, A; Bornstein, B; Garesse, R; Arenas, J
      Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome c oxidase II gene

      ANNALS OF NEUROLOGY
    4. Rubio Aragon, JC
      The male gallery owner - Can we talk of art that is asexual, neutral or nonsexual?

      ARBOR-CIENCIA PENSAMIENTO Y CULTURA
    5. Campos, Y; Garcia, A; Eiris, J; Fuster, M; Rubio, JC; Martin, MA; del Hoyo, P; Pintos, E; Castro-Gago, M; Arenas, J
      Mitochondrial myopathy, cardiomyopathy and psychiatric illness in a Spanish family harbouring the mtDNA 3303C > T mutation

      JOURNAL OF INHERITED METABOLIC DISEASE
    6. 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
    7. Campos, Y; Lorenzo, G; Martin, MA; Torregrosa, A; del Hoyo, P; Rubio, JC; Garcia, A; Arenas, J
      A mitochondrial tRNA(Lys) gene mutation (T8316C) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes

      NEUROMUSCULAR DISORDERS
    8. 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
    9. 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
    10. Campos, Y; Martin, MA; Caballero, C; Rubio, JC; de la Cruz, F; Tunon, T; Arenas, J
      Single large-scale mitochondrial DNA deletion in a patient with encephalopathy, cardiomyopathy, and prominent intestinal pseudo-obstruction

      NEUROMUSCULAR DISORDERS
    11. Martin, MA; Gomez, MA; Guillen, F; Bornstein, B; Campos, Y; Rubio, JC; de la Calzada, CS; Arenas, J
      Myocardial carnitine and carnitine palmitoyltransferase deficiencies in patients with severe heart failure

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    12. 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
    13. 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
    14. 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
    15. Martin, MA; Rubio, JC; De Bustos, F; Del Hoyo, P; Campos, Y; Garcia, A; Bornstein, B; Cabello, A; Arenas, J
      Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency

      MUSCLE & NERVE
    16. Martin, MA; Campos, Y; Garcia-Silva, MT; Rubio, JC; Del Hoyo, P; de Bustos, F; Garcia, A; Arenas, J
      Slow segregation and rapid shift to homoplasmy coexist in a family with the T8993 > G mutation

      JOURNAL OF INHERITED METABOLIC DISEASE
    17. Arenas, J; Campos, Y; Bornstein, B; Ribacoba, R; Martin, MA; Rubio, JC; Santorelli, FM; Zeviani, M; DiMauro, S; Garesse, R
      A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA(Lys) gene associated with myoclonus epilepsy with ragged-red fibers

      NEUROLOGY
    18. Campos, Y; Martin, MA; Garcia-Silva, T; del Hoyo, P; Rubio, JC; Castro-Gago, M; Garcia-Penas, J; Casas, J; Cabello, A; Ricoy, JR; Arenas, J
      Clinical heterogeneity associated with mitochondrial DNA depletion in muscle

      NEUROMUSCULAR DISORDERS
    19. Arenas, J; Rubio, JC; Martin, MA; Campos, Y
      Biological roles of L-carnitine in perinatal metabolism

      EARLY HUMAN DEVELOPMENT
    20. ARENAS J; CAMPOS Y; RIBACOBA R; MARTIN MA; RUBIO JC; ABLANEDO P; CABELLO A
      COMPLEX-I DEFECT IN MUSCLE FROM PATIENTS WITH HUNTINGTONS-DISEASE

      Annals of neurology
    21. RUBIO JC; DEBUSTOS F; MOLINA JA; JIMENEZJIMENEZ FJ; BENITOLEON J; MARTIN MA; CAMPOS Y; ORTIPAREJA M; CABRERAVALDIVIA F; ARENAS J
      CEREBROSPINAL-FLUID CARNITINE LEVELS IN PATIENTS WITH ALZHEIMERS-DISEASE

      Journal of the neurological sciences
    22. 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
    23. 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
    24. JIMENEZJIMENEZ FJ; DEBUSTOS F; MOLINA JA; BENITOLEON J; TALLONBARRANCO A; GASALLA T; ORTIPAREJA M; GUILLAMON F; RUBIO JC; ARENAS J; ENRIQUEZDESALAMANCA R
      CEREBROSPINAL-FLUID LEVELS OF ALPHA-TOCOPHEROL (VITAMIN-E) IN ALZHEIMERS-DISEASE

      Journal of neural transmission
    25. CAMPOS Y; MARTIN MA; RUBIO JC; SOLANA LG; GARCIABENAYAS C; TERRADAS JL; ARENAS J
      LEIGH-SYNDROME ASSOCIATED WITH THE T9176C MUTATION IN THE ATPASE-6 GENE OF MITOCHONDRIAL-DNA

      Neurology
    26. JIMENEZJIMENEZ FJ; RUBIO JC; MOLINA JA; MARTIN MA; CAMPOS Y; BENITOLEON J; ORTIPAREJA M; GASALLA T; ARENAS J
      CEREBROSPINAL-FLUID CARNITINE LEVELS IN PATIENTS WITH PARKINSONS-DISEASE

      Journal of the neurological sciences
    27. CAMPOS Y; MARTIN MA; RUBIO JC; DELOLMO MCG; CABELLO A; ARENAS J
      BILATERAL STRIATAL NECROSIS AND MELAS ASSOCIATED WITH A NEW T3308C MUTATION IN THE MITOCHONDRIAL ND1 GENE

      Biochemical and biophysical research communications
    28. COEDO AG; DORADO MT; RUIZ J; ESCUDERO M; RUBIO JC
      EVALUATION OF FLOW-INJECTION SAMPLE TO STANDARD ADDITION METHOD FOR THE INDUCTIVELY-COUPLED PLASMA-MASS SPECTROMETRIC DETERMINATION OF ALUMINUM IN BIOLOGICAL TISSUES

      Journal of mass spectrometry.
    29. CANPOS Y; MARTIN MA; RUBIO JC; RICARD C; CABELLO A; ARENAS J
      MULTIPLE DELETIONS OF MITOCHONDRIAL-DNA IN MUSCLE FROM A PATIENT WITHBENIGN PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

      Journal of inherited metabolic disease


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/05/20 alle ore 00:39:01