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La ricerca find articoli where soggetti phrase all words 'RED FIBERS MERRF' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 47 riferimenti
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    1. Taylor, RW; Taylor, GA; Durham, SE; Turnbull, DM
      The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations

      NUCLEIC ACIDS RESEARCH
    2. De Kremer, RD; Paschini-Capra, A; Bacman, S; Argarana, C; Civallero, G; Kelley, RI; Guelbert, N; Latini, A; de Halac, IN; Giner-Ayala, A; Johnston, J; Proujansky, R; Gonzalez, I; Depetris-Boldini, C; Oller-Ramirez, A; Angaroni, C; Theaux, RA; Hliba, E; Juaneda, E
      Barth's syndrome-like disorder: A new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    3. Thorburn, DR; Dahl, HHM
      Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options

      AMERICAN JOURNAL OF MEDICAL GENETICS
    4. Munoz-Malaga, A; Bautista, J; Salazar, JA; Aguilera, I; Garcia, R; Chinchon, I; Segura, MD; Campos, Y; Arenas, J
      Lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy?

      MUSCLE & NERVE
    5. Cavelier, L; Johannisson, A; Gyllensten, U
      Analysis of mtDNA copy number and composition of single mitochondrial particles using flow cytometry and PCR

      EXPERIMENTAL CELL RESEARCH
    6. Traff, J; Petrovic, P; Ingvar, M
      Thalamic activation in photic myoclonus

      ACTA NEUROLOGICA SCANDINAVICA
    7. Tiranti, V; Carrara, F; Confalonieri, P; Mora, M; Maffei, RM; Lamantea, E; Zeviani, M
      A novel mutation (8342G -> A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus

      NEUROMUSCULAR DISORDERS
    8. Rossignol, R; Malgat, M; Mazat, JP; Letellier, T
      Threshold effect and tissue specificity - Implication for mitochondrial cytopathies

      JOURNAL OF BIOLOGICAL CHEMISTRY
    9. Scaioli, V; Antozzi, C; Villani, F; Rimoldi, M; Zeviani, M; Panzica, F; Avanzini, G
      Utility of multimodal evoked potential study and electroencephalography inmitochondrial encephalomyopathy

      ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES
    10. ZEVIANI M; TIRANTI V; PIANTADOSI C
      MITOCHONDRIAL DISORDERS

      Medicine
    11. POULTON J; MACAULAY V; MARCHINGTON DR
      IS THE BOTTLENECK CRACKED

      American journal of human genetics
    12. VLADUTIU GD
      ADVANCES IN THE GENETIC MECHANISMS OF MITOCHONDRIAL DISEASE

      Current opinion in neurology
    13. WARNER TT; SCHAPIRA AHV
      GENETIC-COUNSELING IN MITOCHONDRIAL DISEASES

      Current opinion in neurology
    14. HANNA MG; BHATIA KP
      MOVEMENT-DISORDERS AND MITOCHONDRIAL DYSFUNCTION

      Current opinion in neurology
    15. LODI R; TAYLOR DJ; TABRIZI SJ; KUMAR S; SWEENEY M; WOOD NW; STYLES P; RADDA GK; SCHAPIRA AHV
      IN-VIVO SKELETAL-MUSCLE MITOCHONDRIAL-FUNCTION IN LEBERS HEREDITARY OPTIC NEUROPATHY ASSESSED BY P-31 MAGNETIC-RESONANCE SPECTROSCOPY

      Annals of neurology
    16. KLOPSTOCK T; NAUMANN M; SEIBEL P; SHALKE B; REINERS K; REICHMANN H
      MITOCHONDRIAL-DNA MUTATIONS IN MULTIPLE SYMMETRICAL LIPOMATOSIS

      Molecular and cellular biochemistry
    17. STINCKENS C; ENSINK R; FEENSTRA L; FRYNS JP; CREMERS C
      NON-SYNDROMIC DOMINANT SENSORINEURAL HEARING-LOSS - FROM A FEW PHENOTYPES TO MANY GENOTYPES

      International journal of pediatric otorhinolaryngology
    18. FERLIN T; LANDRIEU P; RAMBAUD C; FERNANDEZ H; DUMOULIN R; RUSTIN P; MOUSSON B
      SEGREGATION OF THE GB993 MUTANT MITOCHONDRIAL-DNA THROUGH GENERATIONSAND EMBRYONIC-TISSUES IN A FAMILY AT RISK OF LEIGH-SYNDROME

      The Journal of pediatrics
    19. LU YN; PLANELLES V; LI XQ; PALANIAPPAN C; DAY B; CHALLITAEID P; AMADO R; STEPHENS D; KOHN DB; BAKKER A; FAY P; BAMBARA RA; ROSENBLATT JD
      INHIBITION OF HIV-1 REPLICATION USING A MUTATED TRNA(LYS-3) PRIMER

      The Journal of biological chemistry
    20. JENUTH JP; PETERSON AC; FU K; SHOUBRIDGE EA
      RANDOM GENETIC DRIFT IN THE FEMALE GERMLINE EXPLAINS THE RAPID SEGREGATION OF MAMMALIAN MITOCHONDRIAL-DNA

      Nature genetics
    21. FU K; HARTLEN R; JOHNS T; GENGE A; KARPATI G; SHOUBRIDGE EA
      A NOVEL HETEROPLASMIC TRNA(LEU(CUN)) MTDNA POINT MUTATION IN A SPORADIC PATIENT WITH MITOCHONDRIAL ENCEPHALOMYOPATHY SEGREGATES RAPIDLY IN SKELETAL-MUSCLE AND SUGGESTS AN APPROACH TO THERAPY

      Human molecular genetics
    22. SHERRATT EJ; THOMAS AW; GAGG JW; ALCOLADO JC
      NONRADIOACTIVE CHARACTERIZATION OF LOW-LEVEL HETEROPLASMIC MITOCHONDRIAL-DNA MUTATIONS BY SSCP-PCR ENRICHMENT

      BioTechniques
    23. SANO M; OZAWA M; SHIOTA S; MOMOSE Y; UCHIGATA M; GOTO Y
      THE T-C-(8356) MITOCHONDRIAL-DNA MUTATION IN A JAPANESE FAMILY

      Journal of neurology
    24. CAMPOS Y; MARTIN MA; LORENZO G; APARICIO M; CABELLO A; ARENAS J
      SPORADIC MERRF MELAS OVERLAP SYNDROME-ASSOCIATED WITH THE 3243-TRNA(LEU(UUR)) MUTATION OF MITOCHONDRIAL-DNA/

      Muscle & nerve
    25. KOUTROUMANIDIS M; PAPADIMITRIOU A; BOUZAS E; AVRAMIDIS T; PAPATHANASSOPOULOS P; HOWARD RS; PAPAPETROPOULOS T
      REDUCED BRAIN-STEM EXCITABILITY IN MITOCHONDRIAL MYOPATHY - EVIDENCE FOR EARLY DETECTION WITH BLINK REFLEX HABITUATION STUDIES

      Muscle & nerve
    26. CAMPOS Y; MARTIN MA; VAAMONDE J; CABELLO A; ESTEBAN J; ARENAS J
      CLINICAL VARIABILITY ASSOCIATED WITH THE MUTATION AT NUCLEOTIDE POSITION-8344 OF THE MITOCHONDRIAL-DNA

      Journal of inherited metabolic disease
    27. HOWELL N; KUBACKA I; SMITH R; FRERMAN F; PARKS JK; PARKER WD
      ASSOCIATION OF THE MITOCHONDRIAL-8344-MERRF MUTATION WITH MATERNALLY INHERITED SPINOCEREBELLAR DEGENERATION AND LEIGH-DISEASE

      Neurology
    28. DEVRIES DD; WENT LN; BRUYN GW; SCHOLTE HR; HOFSTRA RMW; BOLHUIS PA; VANOOST BA
      GENETIC AND BIOCHEMICAL IMPAIRMENT OF MITOCHONDRIAL COMPLEX-I ACTIVITY IN A FAMILY WITH LEBER HEREDITARY OPTIC NEUROPATHY AND HEREDITARY SPASTIC DYSTONIA

      American journal of human genetics
    29. WALKER UA; JEANFRANCOIS B; BYRNE E
      IMPACT OF THE 25TH CHROMOSOME ON MITOCHONDRIAL DYSFUNCTION IN HUMAN-DISEASE

      Journal of clinical neuroscience
    30. HOLME E; TULINIUS MH; LARSSON NG; OLDFORS A
      INHERITANCE AND EXPRESSION OF MITOCHONDRIAL-DNA POINT MUTATIONS

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

      Mutation research. DNAging
    32. 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
    33. LARSSON NG; CLAYTON DA
      MOLECULAR-GENETIC ASPECTS OF HUMAN MITOCHONDRIAL DISORDERS

      Annual review of genetics
    34. MATTHEWS PM; SQUIER MV; CHALK C; DONAGHY M
      MITOCHONDRIAL ABNORMALITIES ARE NOT INVARIABLY PRESENT IN NEUROLOGIC SYNDROMES ASSOCIATED WITH MULTIPLE SYMMETRICAL LIPOMATOSIS

      Neurology
    35. HANNA MG; NELSON IP; MORGANHUGHES JA; HARDING AE
      IMPAIRED MITOCHONDRIAL TRANSLATION IN HUMAN MYOBLASTS HARBORING THE MITOCHONDRIAL-DNA TRANSFER-RNA LYSINE-8344 A-]G (MERRF) MUTATION - RELATIONSHIP TO PROPORTION OF MUTANT MITOCHONDRIAL-DNA

      Journal of the neurological sciences
    36. HUANG CC; WAI YY; CHU NS; LIOU CW; PANG CY; SHIH KD; WEI YH
      MITOCHONDRIAL ENCEPHALOMYOPATHIES - CT AND MRI FINDINGS AND CORRELATIONS WITH CLINICAL-FEATURES

      European neurology
    37. ACHARYA JN; SATISHCHANDRA P; SHANKAR SK
      FAMILIAL PROGRESSIVE MYOCLONUS EPILEPSY - CLINICAL AND ELECTROPHYSIOLOGIC OBSERVATIONS

      Epilepsia
    38. HANNA MG; NELSON I; SWEENEY MG; COOPER JM; WATKINS PJ; MORGANHUGHES JA; HARDING AE
      CONGENITAL ENCEPHALOMYOPATHY AND ADULT-ONSET MYOPATHY AND DIABETES-MELLITUS - DIFFERENT PHENOTYPIC ASSOCIATIONS OF A NEW HETEROPLASMIC MTDNA TRANSFER-RNA GLUTAMIC-ACID MUTATION

      American journal of human genetics
    39. SANO M; ISHII K; MOMOSE Y; UCHIGATA M; SENDA M
      CEREBRAL METABOLISM OF OXYGEN AND GLUCOSE IN A PATIENT WITH MELAS SYNDROME

      Acta neurologica Scandinavica
    40. HARDING AE
      INHERITED MOVEMENT-DISORDERS

      Bailliere's clinical neurology
    41. SCHON EA; HIRANO M; DIMAURO S
      MITOCHONDRIAL ENCEPHALOMYOPATHIES - CLINICAL AND MOLECULAR ANALYSIS

      Journal of bioenergetics and biomembranes
    42. SHOUBRIDGE EA
      MITOCHONDRIAL-DNA DISEASES - HISTOLOGICAL AND CELLULAR STUDIES

      Journal of bioenergetics and biomembranes
    43. KLOPSTOCK T; NAUMANN M; SCHALKE B; BISCHOF F; SEIBEL P; KOTTLORS M; ECKERT P; REINERS K; TOYKA KV; REICHMANN H
      MULTIPLE SYMMETRICAL LIPOMATOSIS - ABNORMALITIES IN COMPLEX-IV AND MULTIPLE DELETIONS IN MITOCHONDRIAL-DNA

      Neurology
    44. 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
    45. HOWELL N; XU M; HALVORSON S; BODISWOLLNER I; SHERMAN J
      HETEROPLASMIC LHON FAMILY - TISSUE DISTRIBUTION AND TRANSMISSION OF THE 11778-MUTATION

      American journal of human genetics
    46. MATTHEWS PM; ANDERMANN F; SILVER K; KARPATI G; ARNOLD DL
      PROTON MR SPECTROSCOPIC CHARACTERIZATION OF DIFFERENCES IN REGIONAL BRAIN METABOLIC ABNORMALITIES IN MITOCHONDRIAL ENCEPHALOMYOPATHIES

      Neurology
    47. SVEINBJORNSDOTTIR S; DUNCAN JS
      PARIETAL AND OCCIPITAL LOBE EPILEPSY - A REVIEW

      Epilepsia


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/05/20 alle ore 10:41:43