Catalogo Articoli (Spogli Riviste)

HELP
ATTENZIONE: attualmente gli articoli Current Contents (fonte ISI) a partire dall'anno 2002 sono consultabili sulla Risorsa On-Line

Le informazioni sugli articoli di fonte ISI sono coperte da copyright

La ricerca find articoli where soggetti phrase all words 'mitochondrial disease' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 90 riferimenti
Selezionare un intervallo

Per ulteriori informazioni selezionare i riferimenti di interesse.

    1. Finnila, S; Majamaa, K
      Phylogenetic analysis of mtDNA haplogroup TJ in a Finnish population

      JOURNAL OF HUMAN GENETICS
    2. Jacobi, FK; Meyer, J; Pusch, CM; Wissinger, B
      Quantitation of heteroplasmy in mitochondrial DNA mutations by primer extension using Vent(R)(R)(exo-) DNA polymerase and RFLP analysis

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    3. Penta, JS; Johnson, FM; Wachsman, JT; Copeland, WC
      Mitochondrial DNA in human malignancy

      MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
    4. Nagashima, T; Kato, H; Maguchi, S; Chuma, T; Mano, Y; Goto, Y; Nonaka, I; Nagashima, K
      A mitochondrial encephalo-myo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA

      NEUROMUSCULAR DISORDERS
    5. 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
    6. Ramakrishna, R; Edwards, JS; McCulloch, A; Palsson, BO
      Flux-balance analysis of mitochondrial energy metabolism: consequences of systemic stoichiometric constraints

      AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY
    7. Ramsbacher, J; Theallier-Janko, A; Stoltenburg-Didinger, G; Brock, M
      Ultrastructural changes in paravertebral muscles associated with degenerative spondylolisthesis

      SPINE
    8. Taanman, JW; Williams, SL
      Assembly of cytochrome c oxidase: what can we learn from patients with cytochrome c oxidase deficiency?

      BIOCHEMICAL SOCIETY TRANSACTIONS
    9. Yamakawa, T; Yoshida, F; Kumagai, T; Watanabe, H; Takano, A; Mizuno, M; Ikeguchi, H; Morita, Y; Sobue, G; Matsuo, S
      Glomerulocystic kidney associated with subacute necrotizing-encephalomyelopathy

      AMERICAN JOURNAL OF KIDNEY DISEASES
    10. Shoffner, JM
      An introduction: Oxidative phosphorylation diseases

      SEMINARS IN NEUROLOGY
    11. Shoubridge, EA
      Nuclear gene defects in respiratory chain disorders

      SEMINARS IN NEUROLOGY
    12. Robinson, BH
      Prenatal diagnosis of disorders of energy metabolism

      SEMINARS IN NEUROLOGY
    13. Biousse, V; Newman, NJ
      Neuro-ophthalmology of mitochondrial diseases

      SEMINARS IN NEUROLOGY
    14. Dougherty, FE
      Metabolic testing in mitochondrial disease

      SEMINARS IN NEUROLOGY
    15. Zullo, SJ
      Gene therapy of mitochondrial DNA mutations: A brief, biased history of allotopic expression in mammalian cells

      SEMINARS IN NEUROLOGY
    16. Yasukawa, T; Suzuki, T; Ishii, N; Ohta, S; Watanabe, K
      Wobble modification defect in tRNA disturbs codon-anticodon interaction ina mitochondrial disease

      EMBO JOURNAL
    17. Scheffler, IE
      Mitochondria make a come back

      ADVANCED DRUG DELIVERY REVIEWS
    18. Chinnery, PF; Andrews, RM; Turnbull, DM; Howell, N
      Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    19. Munnich, A; Rustin, P
      Clinical spectrum and diagnosis of mitochondrial disorders

      AMERICAN JOURNAL OF MEDICAL GENETICS
    20. Shoubridge, EA
      Cytochrome c oxidase deficiency

      AMERICAN JOURNAL OF MEDICAL GENETICS
    21. Suomalainen, A; Kaukonen, J
      Diseases caused by nuclear genes affecting mtDNA stability

      AMERICAN JOURNAL OF MEDICAL GENETICS
    22. Wallace, DC
      Mouse models for mitochondrial disease

      AMERICAN JOURNAL OF MEDICAL GENETICS
    23. Chinnery, PF; Turnbull, DM
      Epidemiology and treatment of mitochondrial disorders

      AMERICAN JOURNAL OF MEDICAL GENETICS
    24. Spruijt, L; Naviaux, RK; McGowan, KA; Nyhan, WL; Sheean, G; Haas, RH; Barshop, BA
      Nerve conduction changes in patients with mitochondrial diseases treated with dichloroacetate

      MUSCLE & NERVE
    25. Damian, MS; Sauter, W; Reichmann, H
      Subcutaneous microdialysis in mitochondrial cytopathy

      MUSCLE & NERVE
    26. Tarnopolsky, MA; Parshad, A; Walzel, B; Schlattner, U; Wallimann, T
      Creatine transporter and mitochondrial creatine kinase protein content in myopathies

      MUSCLE & NERVE
    27. Nakada, K; Inoue, K; Chen, CS; Nonaka, I; Goto, Y; Ogura, A; Hayashi, JI
      Correlation of functional and ultrastructural abnormalities of mitochondria in mouse heart carrying a pathogenic mutant mtDNA with a 4696-bp deletion

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    28. Umeda, S; Tang, YY; Okamoto, M; Hamasaki, N; Schon, EA; Kang, DC
      Both heavy strand replication origins are active in partially duplicated human mitochondrial DNAs

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    29. Yamaoka, M; Mikami, T; Ono, T; Nakada, K; Hayashi, JI
      Mice with only rat mtDNA are required as models of mitochondrial diseases

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    30. Musco, G; Stier, G; Kolmerer, B; Adinolfi, S; Martin, S; Frenkiel, T; Gibson, T; Pastore, A
      Towards a structural understanding of Friedreich's ataxia: the solution structure of frataxin

      STRUCTURE WITH FOLDING & DESIGN
    31. Rusanen, H; Majamaa, K; Hassinen, IE
      Increased activities of antioxidant enzymes and decreased ATP concentration in cultured myoblasts with the 3243A -> G mutation in mitochondrial DNA

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    32. Teragaki, M; Takeuchi, K; Toda, I; Yoshiyama, M; Akioka, K; Tanaka, M; Yoshikawa, J
      Point mutations in mitochondrial DNA of patients with alcoholic cardiomyopathy

      HEART AND VESSELS
    33. Naviaux, RK
      Mitochondrial DNA disorders

      EUROPEAN JOURNAL OF PEDIATRICS
    34. Smeitink, JAM; Sengers, RCA; Trijbels, FJM; van den Heuvel, LP
      Nuclear genes and oxidative phosphorylation disorders: a review

      EUROPEAN JOURNAL OF PEDIATRICS
    35. Lacbawan, F; Tifft, CJ; Luban, NLC; Schmandt, SM; Guerrera, M; Weinstein, S; Pennybacker, M; Wong, LJC
      Clinical heterogeneity in mitochondrial DNA deletion disorders: A diagnostic challenge of Pearson syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    36. Gattermann, N
      From sideroblastic anemia to the role of mitochondrial DNA mutations in myelodysplastic syndromes

      LEUKEMIA RESEARCH
    37. Yasukawa, T; Suzuki, T; Ishii, N; Ueda, T; Ohta, S; Watanabe, K
      Defect in modification at the anticodon wobble nucleotide of mitochondrialtRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation

      FEBS LETTERS
    38. Elliott, PM; Hanna, MG; Ward, SA; Chinnery, PF; Turnbull, DM; Wood, NW; McKenna, WJ
      Diagnostic utility of metabolic exercise testing in a patient with cardiovascular disease

      HEART
    39. Taggart, RT; Smail, D; Apolito, C; Vladutiu, GD
      Novel mutations associated with carnitine palmitoyltransferase II deficiency

      HUMAN MUTATION
    40. Melov, S; Coskun, PE; Wallace, DC
      Mouse models of mitochondrial disease, oxidative stress, and senescence

      MUTATION RESEARCH-DNA REPAIR
    41. Wallace, DC; Brown, MD; Lott, MT
      Mitochondrial DNA variation in human evolution and disease

      GENE
    42. Boles, RG; Williams, JC
      Mitochondrial disease and cyclic vomiting syndrome

      DIGESTIVE DISEASES AND SCIENCES
    43. Chinnery, PF; Zwijnenburg, PJG; Walker, M; Howell, N; Taylor, RW; Lightowlers, RN; Bindoff, L; Turnbull, DM
      Nonrandom tissue distribution of mutant mtDNA

      AMERICAN JOURNAL OF MEDICAL GENETICS
    44. Bodemer, C; Rotig, A; Rustin, P; Cormier, V; Niaudet, P; Saudubray, JM; Rabier, D; Munnich, A; de Prost, Y
      Hair and skin disorders as signs of mitochondrial disease

      PEDIATRICS
    45. Klopstock, T; Jaksch, M; Gasser, T
      Age and cause of death in mitochondrial diseases

      NEUROLOGY
    46. Chinnery, PF; Howell, N; Andrews, RM; Turnbull, DM
      Clinical mitochondrial genetics

      JOURNAL OF MEDICAL GENETICS
    47. Land, SC; Porterfield, DM; Sanger, RH; Smith, PJS
      The self-referencing oxygen-selective microelectrode: Detection of transmembrane oxygen flux from single cells

      JOURNAL OF EXPERIMENTAL BIOLOGY
    48. Seo, BB; Matsuno-Yagi, A; Yagi, T
      Modulation of oxidative phosphorylation of human kidney 293 cells by transfection with the internal rotenone-insensitive NADH-quinone oxidoreductase (NDI1) gene of Saccharomyces cerevisiae

      BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
    49. LUNARDI J; DARROUZET E; DUPUIS A; ISSARTEL JP
      THE NUOM ARG(368)HIS MUTATION IN NADH - UBIQUINONE OXIDOREDUCTASE FROM RHODOBACTER-CAPSULATUS - A MODEL FOR THE HUMAN ND4-11778 MTDNA MUTATION ASSOCIATED WITH LEBERS HEREDITARY OPTIC NEUROPATHY

      Biochimica et biophysica acta. Molecular basis of disease
    50. PEREIRA LF; OLIVEIRA MBM; CARNIERI EGS
      MITOCHONDRIAL SENSITIVITY TO AZT

      Cell biochemistry and function
    51. PEREZATAYDE AR; FOX V; TEITELBAUM JE; ANTHONY DA; FADIC R; KALSNER L; RIVKIN M; JOHNS DR; COX GF
      MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY - DIAGNOSIS BY RECTAL BIOPSY

      The American journal of surgical pathology
    52. ROSSMANITH W; KARWAN RM
      IMPAIRMENT OF TRANSFER-RNA PROCESSING BY POINT MUTATIONS IN MITOCHONDRIAL TRNA(LEU(UUR)) ASSOCIATED WITH MITOCHONDRIAL DISEASES

      FEBS letters
    53. MATHER MW; ROTTENBERG H
      INTRINSIC UNCOUPLING OF CYTOCHROME-C-OXIDASE MAY CAUSE THE MATERNALLYINHERITED MITOCHONDRIAL DISEASES MELAS AND LHON

      FEBS letters
    54. WIEDEMANN FR; KUNZ WS
      OXYGEN DEPENDENCE OF FLUX CONTROL OF CYTOCHROME-C-OXIDASE - IMPLICATIONS FOR MITOCHONDRIAL DISEASES

      FEBS letters
    55. DAMIAN MS; HERTEL A; SEIBEL P; REICHMANN H; BACHMANN G; SCHACHENMAYR W; HOER G; DORNDORF W
      FOLLOW-UP IN CARRIERS OF THE MELAS MUTATION WITHOUT STROKES

      European neurology
    56. MARUSICH MF; ROBINSON BH; TAANMAN JW; KIM SJ; SCHILLACE R; SMITH JL; CAPALDI RA
      EXPRESSION OF MTDNA AND NDNA ENCODED RESPIRATORY-CHAIN PROTEINS IN CHEMICALLY AND GENETICALLY-DERIVED RHO0 HUMAN FIBROBLASTS - A COMPARISONOF SUBUNIT PROTEINS IN NORMAL FIBROBLASTS TREATED WITH ETHIDIUM-BROMIDE AND FIBROBLASTS FROM A PATIENT WITH MTDNA DEPLETION SYNDROME

      Biochimica et biophysica acta. Molecular basis of disease
    57. KUZNETSOV AV; WINKLER K; KIRCHES E; LINS H; FEISTNER H; KUNZ WS
      APPLICATION OF INHIBITOR TITRATIONS FOR THE DETECTION OF OXIDATIVE-PHOSPHORYLATION DEFECTS IN SAPONIN-SKINNED MUSCLE-FIBERS OF PATIENTS WITH MITOCHONDRIAL DISEASES

      Biochimica et biophysica acta. Molecular basis of disease
    58. SUOMALAINEN A
      MITOCHONDRIAL-DNA AND DISEASE

      Annals of medicine
    59. MATTHEWS PM; TAIVASSALO T
      APPLICATIONS OF MAGNETIC-RESONANCE SPECTROSCOPY TO DIAGNOSIS AND MONITORING OF MITOCHONDRIAL DISEASE

      Italian journal of neurological sciences
    60. WHEELER VC; AITKEN M; COUTELLE C
      MODIFICATION OF THE MOUSE MITOCHONDRIAL GENOME BY INSERTION OF AN EXOGENOUS GENE

      Gene
    61. INFANTE JP; HUSZAGH VA
      ON THE MOLECULAR ETIOLOGY OF DECREASED ARACHIDONIC (20 4N-6), DOCOSAPENTAENOIC (22/5N-6) AND DOCOSAHEXAENOIC (22/6N-3) ACIDS IN ZELLWEGER-SYNDROME AND OTHER PEROXISOMAL DISORDERS/

      Molecular and cellular biochemistry
    62. FROMENTY B; CARROZZO R; SHANSKE S; SCHON EA
      HIGH PROPORTIONS OF MTDNA DUPLICATIONS IN PATIENTS WITH KEARNS-SAYRE-SYNDROME OCCUR IN THE HEART

      American journal of medical genetics
    63. WALLACE DC; STUGARD C; MURDOCK D; SCHURR T; BROWN MD
      ANCIENT MTDNA SEQUENCES IN THE HUMAN NUCLEAR GENOME - A POTENTIAL SOURCE OF ERRORS IN IDENTIFYING PATHOGENIC MUTATIONS

      Proceedings of the National Academy of Sciences of the United Statesof America
    64. KORNLUBETZKI I; BLUMENFELD A; GOMORI JM; SOFFER D; STEINER I
      PROGRESSIVE DYSTONIA WITH OPTIC ATROPHY IN A JEWISH-IRAQI FAMILY

      Journal of the neurological sciences
    65. MAJANDER A; LAMMINEN T; JUVONEN V; AULA P; NIKOSKELAINEN E; SAVONTAUS ML; WIKSTROM M
      MUTATIONS IN SUBUNIT-6 OF THE F1F0-ATP SYNTHASE CAUSE 2 ENTIRELY DIFFERENT DISEASES

      FEBS letters
    66. BARACCA A; BUCCHI L; GHELLI A; LENAZ G
      PROTONOPHORIC ACTIVITY OF NADH COENZYME-Q REDUCTASE AND ATP SYNTHASE IN COUPLED SUBMITOCHONDRIAL PARTICLES FROM HORSE PLATELETS

      Biochemical and biophysical research communications
    67. CICCOTELLI KK; PRAK EL; MURAVCHICK S
      AN ADULT WITH INHERITED MITOCHONDRIAL ENCEPHALOMYOPATHY - REPORT OF ACASE

      Anesthesiology
    68. ARGOV Z; DESTEFANO N; ARNOLD DL
      ADP RECOVERY AFTER A BRIEF ISCHEMIC EXERCISE IN NORMAL AND DISEASED HUMAN MUSCLE - A P-31 MRS STUDY

      NMR in biomedicine
    69. BOUZIDI MF; CARRIER H; GODINOT C
      ANTIMYCIN RESISTANCE AND UBIQUINOL CYTOCHROME-C REDUCTASE INSTABILITYASSOCIATED WITH A HUMAN CYTOCHROME-B MUTATION

      Biochimica et biophysica acta. Molecular basis of disease
    70. MARINGARCIA J; ANANTHAKRISHNAN R; KORSON M; GOLDENTHAL MJ; PEREZATAYDE A
      CARDIAC MITOCHONDRIAL DYSFUNCTION IN LEIGH-SYNDROME

      Pediatric cardiology
    71. TOSCANO A; SANTORO M; VITA G; GIRLANDA P; SINICROPI S; FAZIO MC; MAZZEO A; RODOLICO C; AGUENNOUZ M; BARTOLONE S; BET L; COMI GP; MESSINA C
      LATE-ONSET MITOCHONDRIAL NEUROMYOPATHY - AN AGE-RELATED PHENOMENON

      Archives of gerontology and geriatrics
    72. DAMIAN MS; SEIBEL P; SCHACHENMAYR W; REICHMANN H; DORNDORF W
      VACTERL WITH THE MITOCHONDRIAL NP-3243 POINT MUTATION

      American journal of medical genetics
    73. NIJTMANS LGJ; KLEMENT P; HOUSTEK J; VANDENBOGERT C
      ASSEMBLY OF MITOCHONDRIAL ATP SYNTHASE IN CULTURED HUMAN-CELLS - IMPLICATIONS FOR MITOCHONDRIAL DISEASES

      Biochimica et biophysica acta. Molecular basis of disease
    74. PETERSON PL
      THE TREATMENT OF MITOCHONDRIAL MYOPATHIES AND ENCEPHALOMYOPATHIES

      Biochimica et biophysica acta. Molecular basis of disease
    75. NIJTMANS LGJ; BARTH PG; LINCKE CR; VANGALEN MJM; ZWART R; KLEMENT P; BOLHUIS PA; RUITENBEEK W; WANDERS RJA; VANDENBOGERT C
      ALTERED KINETICS OF CYTOCHROME-C-OXIDASE IN A PATIENT WITH SEVERE MITOCHONDRIAL ENCEPHALOMYOPATHY

      Biochimica et biophysica acta. Molecular basis of disease
    76. KADENBACH B; MUNSCHER C; FRANK V; MULLERHOCKER J; NAPIWOTZKI J
      HUMAN AGING IS ASSOCIATED WITH STOCHASTIC SOMATIC MUTATIONS OF MITOCHONDRIAL-DNA

      Mutation research. DNAging
    77. MATTHEWS PM; BROWN RM; MORTEN K; MARCHINGTON D; POULTON J; BROWN G
      INTRACELLULAR HETEROPLASMY FOR DISEASE-ASSOCIATED POINT MUTATIONS IN MTDNA - IMPLICATIONS FOR DISEASE EXPRESSION AND EVIDENCE FOR MITOTIC SEGREGATION OF HETEROPLASMIC UNITS OF MTDNA

      Human genetics
    78. MARINGARCIA J; GOLDENTHAL MJ
      MITOCHONDRIAL CARDIOMYOPATHY

      Pediatric cardiology
    79. GONCALVES I; HERMANS D; CHRETIEN D; RUSTIN P; MUNNICH A; SAUDUBRAY JM; VANHOOF F; REDING R; DEGOYET JD; OTTE JB; BUTS JP; SOKAL EM
      MITOCHONDRIAL RESPIRATORY-CHAIN DEFECT - A NEW ETIOLOGY FOR NEONATAL CHOLESTASIS AND EARLY LIVER INSUFFICIENCY

      Journal of hepatology
    80. NIJTMANS LGJ; SPELBRINK JN; VANGALEN MJM; ZWAAN M; KLEMENT P; VANDENBOGERT C
      EXPRESSION AND FATE OF THE NUCLEARLY ENCODED SUBUNITS OF CYTOCHROME-C-OXIDASE IN CULTURED HUMAN-CELLS DEPLETED OF MITOCHONDRIAL GENE-PRODUCTS

      Biochimica et biophysica acta. Molecular cell research
    81. KERRISON JB; HOWELL N; MILLER NR; HIRST L; GREEN WR
      LEBER HEREDITARY OPTIC NEUROPATHY - ELECTRON-MICROSCOPY AND MOLECULAR-GENETIC ANALYSIS OF A CASE

      Ophthalmology
    82. ZEVIANI M; MARIOTTI C; ANTOZZI C; FRATTA GM; RUSTIN P; PRELLE A
      OXPHOS DEFECTS AND MITOCHONDRIAL-DNA MUTATIONS IN CARDIOMYOPATHY

      Muscle & nerve
    83. HEDGES TR; SEDWICK LA; NEWMAN NJ
      2 BROTHERS WITH BILATERAL OPTIC NEUROPATHY

      Survey of ophthalmology
    84. DANDURAND RJ; MATTHEWS PM; ARNOLD DL; EIDELMAN DH
      MITOCHONDRIAL DISEASE - PULMONARY-FUNCTION, EXERCISE PERFORMANCE, ANDBLOOD LACTATE LEVELS

      Chest
    85. DAMIAN MS; SEIBEL P; REICHMANN H; SCHACHENMAYR W; LAUBE H; BACHMANN G; WASSILL KH; DORNDORF W
      CLINICAL SPECTRUM OF THE MELAS MUTATION IN A LARGE PEDIGREE

      Acta neurologica Scandinavica
    86. SHERMAN J; KLEINER L
      VISUAL-SYSTEM DYSFUNCTION IN LEBERS HEREDITARY OPTIC NEUROPATHY

      Clinical neuroscience
    87. JEANFRANCOIS MJB; LERTRIT P; BERKOVIC SF; CRIMMINS D; MORRIS J; MARZUKI S; BYRNE E
      HETEROGENEITY IN THE PHENOTYPIC-EXPRESSION OF THE MUTATION IN THE MITOCHONDRIAL TRNA(LEU(UUR)) GENE GENERALLY ASSOCIATED WITH THE MELAS SUBSET OF MITOCHONDRIAL ENCEPHALOMYOPATHIES

      Australian and New Zealand Journal of Medicine
    88. ROIG M; CALOPA M; ROVIRA A; MACAYA A; RIUDOR E; LOSADA M
      BILATERAL STRIATAL LESIONS IN CHILDHOOD

      Pediatric neurology
    89. DEVIVO DC
      THE EXPANDING CLINICAL SPECTRUM OF MITOCHONDRIAL DISEASES

      Brain & development
    90. FOLGERO T; BERTHEUSSEN K; LINDAL S; TORBERGSEN T; OIAN P
      MITOCHONDRIAL DISEASE AND REDUCED SPERM MOTILITY

      Human reproduction


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/06/20 alle ore 17:03:32