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La ricerca find articoli where soggetti phrase all words 'LEIGHS SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 42 riferimenti
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    1. van den Heuvel, L; Smeitink, J
      The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases

      BIOESSAYS
    2. Canafoglia, L; Franceschetti, S; Antozzi, C; Carrara, F; Farina, L; Granata, T; Lamantea, E; Savoiardo, M; Uziel, G; Villani, F; Zeviani, M; Avanzini, G
      Epileptic phenotypes associated with mitochondrial disorders

      NEUROLOGY
    3. Jaksch, M; Ogilvie, I; Yao, JB; Kortenhaus, G; Bresser, HG; Gerbitz, KD; Shoubridge, EA
      Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

      HUMAN MOLECULAR GENETICS
    4. Punter, FA; Adams, DL; Glerum, DM
      Characterization and localization of human COX17, a gene involved in mitochondrial copper transport

      HUMAN GENETICS
    5. Leonard, JV; Schapira, AHV
      Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects

      LANCET
    6. Baracca, A; Barogi, S; Carelli, V; Lenaz, G; Solaini, G
      Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit alpha

      JOURNAL OF BIOLOGICAL CHEMISTRY
    7. Rahman, S; Lake, BD; Taanman, JW; Hanna, MG; Cooper, JM; Schapira, AHV; Leonard, JV
      Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms

      BRAIN
    8. Hanna, MG; Nelson, IP
      Genetics and molecular pathogenesis of mitochondrial respiratory chain diseases

      CELLULAR AND MOLECULAR LIFE SCIENCES
    9. Papadopoulou, LC; Sue, CM; Davidson, MM; Tanji, K; Nishino, I; Sadlock, JE; Krishna, S; Walker, W; Selby, J; Glerum, DM; Van Coster, R; Lyon, G; Scalais, E; Lebel, R; Kaplan, P; Shanske, S; De Vivo, DC; Bonilla, E; Hirano, M; DiMauro, S; Schon, EA
      Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

      NATURE GENETICS
    10. Raha, S; Merante, F; Shoubridge, E; Myint, AT; Tein, I; Benson, L; Johns, T; Robinson, BH
      Repopulation of rho(0) cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNA(Gly) results in respiratory chain dysfunction

      HUMAN MUTATION
    11. Houstek, J; Klement, P; Floryk, D; Antonicka, H; Hermanska, J; Kalous, M; Hansikova, H; Houst'kova, H; Chowdhury, SKR; Rosipal, S; Kmoch, S; Stratilova, L; Zeman, J
      A novel deficiency of mitochondrial ATPase of nuclear origin

      HUMAN MOLECULAR GENETICS
    12. Antonicka, H; Floryk, D; Klement, P; Stratilova, L; Hermanska, J; Houstkova, H; Kalous, M; Drahota, Z; Zeman, J; Houstek, J
      Defective kinetics of cytochrome c oxidase sold alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position8344 nt

      BIOCHEMICAL JOURNAL
    13. Houstek, J; Klement, P; Hermanska, J; Antonicka, H; Houstkova, H; Stratilova, L; Wanders, RJA; Zeman, J
      Complex approach to prenatal diagnosis of cytochrome c oxidase deficiencies

      PRENATAL DIAGNOSIS
    14. WHITE SL; THORBURN DR; CHRISTODOULOU J; DAHL HHM
      NOVEL MITOCHONDRIAL-DNA VARIANT THAT MAY GIVE A FALSE-POSITIVE DIAGNOSIS FOR THE T8993C MUTATION

      Molecular diagnosis
    15. POYTON RO
      ASSEMBLING A TIME BOMB - CYTOCHROME-C-OXIDASE AND DISEASE

      Nature genetics
    16. Petruzzella, V; Tiranti, V; Fernandez, P; Ianna, P; Carrozzo, R; Zeviani, M
      Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain

      GENOMICS
    17. SUZUKI Y; WADA T; SAKAI T; ISHIKAWA Y; MINAMI R; TACHI N; SAITOH S
      PHENOTYPIC VARIABILITY IN A FAMILY WITH A MITOCHONDRIAL-DNA T8993C MUTATION

      Pediatric neurology
    18. DIMAURO S; BONILLA E; DAVIDSON M; HIRANO M; SCHON EA
      MITOCHONDRIA IN NEUROMUSCULAR DISORDERS

      Biochimica et biophysica acta. Bioenergetics
    19. LAMONT PJ; SURTEES R; WOODWARD CE; LEONARD JV; WOOD NW; HARDING AE
      CLINICAL AND LABORATORY FINDINGS IN REFERRALS FOR MITOCHONDRIAL-DNA ANALYSIS

      Archives of Disease in Childhood
    20. HANNA MG; BHATIA KP
      MOVEMENT-DISORDERS AND MITOCHONDRIAL DYSFUNCTION

      Current opinion in neurology
    21. TAANMAN JW
      HUMAN CYTOCHROME-C-OXIDASE - STRUCTURE, FUNCTION, AND DEFICIENCY

      Journal of bioenergetics and biomembranes
    22. BROWN GK
      BOTTLENECKS AND BEYOND - MITOCHONDRIAL-DNA SEGREGATION IN HEALTH AND DISEASE

      Journal of inherited metabolic disease
    23. BRASHEAR A; DELEON D; BRESSMAN SB; THYAGARAJAN D; FARLOW MR; DOBYNS WB
      RAPID-ONSET DYSTONIA-PARKINSONISM IN A 2ND FAMILY

      Neurology
    24. UZIEL G; MORONI I; LAMANTEA E; FRATTA GM; CICERI E; CARRARA F; ZEVIANI M
      MITOCHONDRIAL DISEASE-ASSOCIATED WITH THE T8993G MUTATION OF THE MITOCHONDRIAL ATPASE-6 GENE - A CLINICAL, BIOCHEMICAL, AND MOLECULAR STUDYIN 6 FAMILIES

      Journal of Neurology, Neurosurgery and Psychiatry
    25. ISOBE K; KISHINO S; INOUE K; TAKAI D; HIRAWAKE H; KITA K; MIYABAYASHI S; HAYASHI JI
      IDENTIFICATION OF INHERITANCE MODES OF MITOCHONDRIAL DISEASES BY INTRODUCTION OF PURE NUCLEI FROM MTDNA-LESS HELA-CELLS TO PATIENT-DERIVED FIBROBLASTS

      The Journal of biological chemistry
    26. DIMAURO S
      MITOCHONDRIAL ENCEPHALOMYOPATHIES - WHAT NEXT

      Journal of inherited metabolic disease
    27. ZEVIANI M; BERTAGNOLIO B; UZIEL G
      NEUROLOGICAL PRESENTATIONS OF MITOCHONDRIAL DISEASES

      Journal of inherited metabolic disease
    28. SANTORELLI FM; MAK SC; VAZQUEZMEMIJE ME; SHANSKE S; KRANZEBLE P; JAIN KD; BLUESTONE DL; DEVIVO DC; DIMAURO S
      CLINICAL HETEROGENEITY ASSOCIATED WITH THE MITOCHONDRIAL-DNA T8993C POINT MUTATION

      Pediatric research
    29. DECOO IFM; SMEETS HJM; GABREELS FJM; ARTS N; VANOOST BA
      ISOLATED CASE OF MENTAL-RETARDATION AND ATAXIA DUE TO A DE-NOVO MITOCHONDRIAL T8993G MUTATION

      American journal of human genetics
    30. HOUSTEK J; KLEMENT P; HERMANSKA J; HOUSTKOVA H; HANSIKOVA H; VANDENBOGERT C; ZEMAN J
      ALTERED PROPERTIES OF MITOCHONDRIAL ATP-SYNTHASE IN PATIENTS WITH A T-]G MUTATION IN THE ATPASE 6(SUBUNIT A) GENE AT POSITION-8993 OF MTDNA

      Biochimica et biophysica acta. Molecular basis of disease
    31. KADENBACH B; BARTH J; AKGUN R; FREUND R; LINDER D; POSSEKEL S
      REGULATION OF MITOCHONDRIAL ENERGY GENERATION IN HEALTH AND DISEASE

      Biochimica et biophysica acta. Molecular basis of disease
    32. MORGANHUGHES JA; SWEENEY MG; COOPER JM; HAMMANS SR; BROCKINGTON M; SCHAPIRA AHV; HARDING AE; CLARK JB
      MITOCHONDRIAL-DNA (MTDNA) DISEASES - CORRELATION OF GENOTYPE TO PHENOTYPE

      Biochimica et biophysica acta. Molecular basis of disease
    33. HOLME E; TULINIUS MH; LARSSON NG; OLDFORS A
      INHERITANCE AND EXPRESSION OF MITOCHONDRIAL-DNA POINT MUTATIONS

      Biochimica et biophysica acta. Molecular basis of disease
    34. THYAGARAJAN D; SHANSKE S; VAZQUEZMEMIJE M; DEVIVO D; DIMAURO S
      A NOVEL MITOCHONDRIAL ATPASE 6-POINT MUTATION IN FAMILIAL BILATERAL STRIATAL NECROSIS

      Annals of neurology
    35. MAKELABENGS P; SUOMALAINEN A; MAJANDER A; RAPOLA J; KALIMO H; NUUTILA A; PIHKO H
      CORRELATION BETWEEN THE CLINICAL SYMPTOMS AND THE PROPORTION OF MITOCHONDRIAL-DNA CARRYING THE 8993-POINT MUTATION IN THE NARP SYNDROME

      Pediatric research
    36. RUSANEN H; MAJAMAA K; TOLONEN U; REMES AM; MYLLYLA R; HASSINEN IE
      DEMYELINATING POLYNEUROPATHY IN A PATIENT WITH THE TRNA(LEU(UUR)), MUTATION AT BASE-PAIR-3243 OF THE MITOCHONDRIAL-DNA

      Neurology
    37. MORGANHUGHES JA
      MITOCHONDRIAL DISEASES OF MUSCLE

      Current opinion in neurology
    38. LERA G; BHATIA K; MARSDEN CD
      DYSTONIA AS THE MAJOR MANIFESTATION OF LEIGHS SYNDROME

      Movement disorders
    39. LERA G; BHATIA K; MARSDEN CD
      DYSTONIA AS THE MAJOR MANIFESTATION OF LEIGHS SYNDROME

      Movement disorders
    40. MATTHEWS PM; NAGY Z; BROWN GK; LAND J; SQUIER MV
      ISOLATED CAPILLARY PROLIFERATION IN LEIGHS SYNDROME

      Clinical neuropathology
    41. SWEENEY MG; HAMMANS SR; DUCHEN LW; COOPER JM; SCHAPIRA AHV; KENNEDY CR; JACOBS JM; YOUL BD; MORGANHUGHES JA; HARDING AE
      MITOCHONDRIAL-DNA MUTATION UNDERLYING LEIGHS SYNDROME - CLINICAL, PATHOLOGICAL, BIOCHEMICAL, AND GENETIC-STUDIES OF A PATIENT PRESENTING WITH PROGRESSIVE MYOCLONIC EPILEPSY

      Journal of the neurological sciences
    42. FRYER A; APPLETON R; SWEENEY MG; ROSENBLOOM L; HARDING AE
      MITOCHONDRIAL-DNA-8993 (NARP) MUTATION PRESENTING WITH A HETEROGENEOUS PHENOTYPE INCLUDING CEREBRAL-PALSY

      Archives of Disease in Childhood


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/06/20 alle ore 08:33:25