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    1. Gallien, I; Caurant, F; Bordes, M; Bustamante, P; Miramand, P; Fernandez, B; Quellard, N; Babin, P
      Cadmium-containing granules in kidney tissue of the Atlantic white-sided dolphin (Lagenorhyncus acutus) off the Faroe Islands

      COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY C-TOXICOLOGY & PHARMACOLOGY
    2. Iwasaki, N; Babazono, T; Tsuchiya, K; Tomonaga, O; Suzuki, A; Togashi, M; Ujihara, N; Sakka, Y; Yokokawa, H; Ogata, M; Nihei, H; Iwamoto, Y
      Prevalence of A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene in Japanese patients with diabetes mellitus and end stage renal disease

      JOURNAL OF HUMAN GENETICS
    3. Baum, C; Meyer, W; Roessner, D; Siebers, D; Fleischer, LG
      A zymogel enhances the self-cleaning abilities of the skin of the pilot whale (Globicephala melas)

      COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY A-MOLECULAR AND INTEGRATIVE PHYSIOLOGY
    4. Shanske, AL; Shanske, S; DiMauro, S
      The other human genome

      ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE
    5. Nariai, R; Ohno, K; Ohta, Y; Hirakawa, K; Ishii, I; Senda, M
      Discordance between cerebral oxygen and glucose metabolism, and hemodynamics in a mitochondrial encephalomyopathy, lactic acidosis, and strokelike episode patient

      JOURNAL OF NEUROIMAGING
    6. Ko, CH; Lam, CW; Tse, PWT; Kong, CK; Chan, AKH; Wong, LJC
      De novo mutation in the mitochondrial tRNA(Leu(UUR)) gene (A3243G) with rapid segregation resulting in MELAS in the offspring

      JOURNAL OF PAEDIATRICS AND CHILD HEALTH
    7. Hsieh, RH; Li, JY; Pang, CY; Wei, YH
      A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy

      JOURNAL OF BIOMEDICAL SCIENCE
    8. Ravn, K; Wibrand, F; Hansen, FJ; Horn, N; Rosenberg, T; Schwartz, M
      An mtDNA mutation, 14453G -> A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    9. Moilanen, JS; Majamaa, K
      Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G

      EUROPEAN JOURNAL OF HUMAN GENETICS
    10. Han, WG; Chen, L; Liu, J; Zha, XL; Jin, YX; Wang, DB
      Gene cloning, expression and purification of human mitochondrial tRNA(Leu(UUR)) and its mutant

      SCIENCE IN CHINA SERIES C-LIFE SCIENCES
    11. Spagnolo, M; Tomelleri, G; Vattemi, G; Filosto, M; Rizzuto, N; Tonin, P
      A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia

      NEUROMUSCULAR DISORDERS
    12. 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
    13. Finnila, S; Tuisku, S; Herva, R; Majamaa, K
      A novel mitochondrial DNA mutation and a mutation in the Notch3 gene in a patient with myopathy and CADASIL

      JOURNAL OF MOLECULAR MEDICINE-JMM
    14. Yanagihara, C; Oyama, A; Tanaka, M; Nakaji, K; Nishimura, Y
      An autopsy case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with chronic renal failure

      INTERNAL MEDICINE
    15. Higashikata, T; Koyama, J; Shimada, H; Yazaki, M; Owa, M; Ikeda, S
      An 80-year-old mitochondrial disease patient with A3243G tRNA(Leu) ((UUR))gene presenting cardiac dysfunction as the main symptom

      INTERNAL MEDICINE
    16. Karadimas, C; Tanji, K; Geremek, M; Chronopoulou, P; Vu, T; Krishna, S; Sue, CM; Shanske, S; Bonilla, E; DiMauro, S; Lipson, M; Bachman, R
      A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy

      JOURNAL OF CHILD NEUROLOGY
    17. Tsao, CY; Mendell, JR; Bartholomew, D
      High mitochondrial DNA T8993G mutation (> 90%) without typical features ofLeigh's and NARP syndromes

      JOURNAL OF CHILD NEUROLOGY
    18. Gill-Randall, R; Sherratt, EJ; Thomas, AW; Gagg, JW; Lee, A; Alcolado, JC
      Analysis of a polycytosine tract and heteroplasmic length variation in themitochondrial DNA D-loop of patients with diabetes, MELAS syndrome and race-matched controls

      DIABETIC MEDICINE
    19. Kim, BS; Kim, DI; Lee, BI; Jeong, EK; Choi, C; Lee, JD; Yoon, PH; Kim, EJ; Kim, SH; Yoon, YK
      Diffusion-weighted image and MR spectroscopic analysis of a case of MELAS with repeated attacks

      YONSEI MEDICAL JOURNAL
    20. 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
    21. Taylor, RW; Singh-Kler, R; Hayes, CM; Smith, PEM; Turnbull, DM
      Progressive mitochondrial disease resulting from a novel missense mutationin the mitochondrial DNA ND3 gene

      ANNALS OF NEUROLOGY
    22. Uimonen, S; Moilanen, JS; Sorri, M; Hassinen, IE; Majamaa, K
      Hearing impairment in patients with 3243A -> G mtDNA mutation: phenotype and rate of progression

      HUMAN GENETICS
    23. Cottrell, DA; Ince, PG; Wardell, TM; Turnbull, DM; Johnson, MA
      Accelerated ageing changes in the choroid plexus of a case with multiple mitochondrial DNA deletions

      NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
    24. Schmiedel, J; Seibel, P; Reichmann, H
      Molecular biological diagnostics of metabolic myopathies

      AKTUELLE NEUROLOGIE
    25. Biousse, V; Newman, NJ
      Neuro-ophthalmology of mitochondrial diseases

      SEMINARS IN NEUROLOGY
    26. Sladky, JT
      Histopathological features of peripheral nerve and muscle in mitochondrialdisease

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

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

      EMBO JOURNAL
    29. Okhuijsen-Kroes, EJ; Trijbels, JMF; Sengers, RCA; Mariman, E; van den Heuvel, LP; Wendel, U; Koch, G; Smeitink, JAM
      Infantile presentation of the mtDNA A3243G tRNA(Leu(UUR)) mutation

      NEUROPEDIATRICS
    30. Kagawa, Y; Inoki, Y; Endo, H
      Gene therapy by mitochondrial transfer

      ADVANCED DRUG DELIVERY REVIEWS
    31. dos Santos, RA; Haimovici, M
      Cephalopods in the diet of marine mammals stranded or incidentally caught along southeastern and southern Brazil (21-34 degrees S)

      FISHERIES RESEARCH
    32. Nishikai, K; Shimada, A; Iwanaga, S; Yamada, T; Yamada, S; Ishii, T; Maruyama, H; Saruta, T
      Progression of cardiac dysfunction in a case of mitochondrial diabetes - Acase report

      DIABETES CARE
    33. 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
    34. 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
    35. Chinnery, PF; Turnbull, DM
      Epidemiology and treatment of mitochondrial disorders

      AMERICAN JOURNAL OF MEDICAL GENETICS
    36. Finsterer, J; Jarius, C; Eichberger, H; Jaksch, M
      Phenotype variability in 130 adult patients with respiratory chain disorders

      JOURNAL OF INHERITED METABOLIC DISEASE
    37. Hotta, O; Inoue, CN; Miyabayashi, S; Furuta, T; Takeuchi, A; Taguma, Y
      Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNA(Leu(UUR)) gene mutation

      KIDNEY INTERNATIONAL
    38. Tzen, CY; Tsai, JD; Wu, TY; Chen, BF; Chen, ML; Lin, SP; Chen, SC
      Tubulointerstitial nephritis associated with a novel mitochondrial point mutation

      KIDNEY INTERNATIONAL
    39. Solano, A; Playan, A; Lopez-Perez, MJ; Montoya, J
      Genetic diseases of the mitochondrial DNA.

      SALUD PUBLICA DE MEXICO
    40. Hameed, R; Raafat, F; Ramani, P; Gray, G; Roper, HP; Milford, DV
      Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease

      POSTGRADUATE MEDICAL JOURNAL
    41. 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
    42. Deschauer, M; Muller, T; Dreha, S; Zierz, S
      Familial mitochondrial chronic progressive external ophthalmoplegia. Five families with different genetics

      NERVENARZT
    43. Zwirner, P; Wilichowski, E
      Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies

      LARYNGOSCOPE
    44. Amagasaki, K; Shimizu, T; Suzuki, Y; Kakizawa, T
      Focal hyperperfusion in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes - Case report

      JOURNAL OF NEUROSURGERY
    45. Kamada, K; Takeuchi, F; Houkin, K; Kitagawa, M; Kuriki, S; Ogata, A; Tashiro, K; Koyanagi, I; Mitsumori, K; Iwasaki, Y
      Reversible brain dysfunction in MELAS: MEG, and H-1 MRS analysis

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    46. Kirches, E; Michael, M; Warich-Kirches, M; Schneider, T; Weis, S; Krause, G; Mawrin, C; Dietzmann, K
      Heterogeneous tissue distribution of a mitochondrial DNA polymorphism in heteroplasmic subjects without mitochondrial disorders

      JOURNAL OF MEDICAL GENETICS
    47. Bogh, C; Clarke, SE; Pinder, M; Sanyang, F; Lindsay, SW
      Effect of passive zooprophylaxis on malaria transmission in the Gambia

      JOURNAL OF MEDICAL ENTOMOLOGY
    48. Counter, PR; Hilton, MP; Webster, D; Wardell, T; Taylor, RW; Besley, G; Turnbull, DM; Robinson, PJ
      Cochlear implantation of a patient with a previously undescribed mitochondrial DNA defect

      JOURNAL OF LARYNGOLOGY AND OTOLOGY
    49. Tsutsumi, T; Nishida, H; Noguchi, Y; Komatsuzaki, A; Kitamura, K
      Audiological findings in patients with myoclonic epilepsy associated with ragged-red fibres

      JOURNAL OF LARYNGOLOGY AND OTOLOGY
    50. Chinnery, PF; Jones, S; Sviland, L; Andrews, RM; Parsons, TJ; Turnbull, DM; Bindoff, LA
      Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract

      GUT
    51. Finsterer, J; Pelzl, G; Zartl, M; Unger, E; Mamoli, B
      Video-EEG monitoring in respiratory chain disorders

      CLINICAL ELECTROENCEPHALOGRAPHY
    52. Ohkubo, K; Yamano, A; Nagashima, M; Mori, Y; Anzai, K; Akehi, Y; Nomiyama, R; Asano, T; Urae, A; Ono, J
      Mitochondrial gene mutations in the tRNA(Leu(UUR)) region and diabetes: Prevalence and clinical phenotypes in Japan

      CLINICAL CHEMISTRY
    53. Deschauer, M; Muller, T; Wieser, T; Schulte-Mattler, W; Kornhuber, M; Zierz, S
      Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation

      ARCHIVES OF NEUROLOGY
    54. Spellberg, B; Carroll, RM; Robinson, E; Brass, E
      mtDNA disease in the primary care setting

      ARCHIVES OF INTERNAL MEDICINE
    55. Brown, DT; Samuels, DC; Michael, EM; Turnbull, DM; Chinnery, PF
      Random genetic drift determines the level of mutant mtDNA in human primaryoocytes

      AMERICAN JOURNAL OF HUMAN GENETICS
    56. Iwanaga, R; Koga, Y; Aramaki, S; Kato, S; Kato, H
      Inter- and/or intra-organ distribution of mitochondrial C3303T or A3243G mutation in mitochondrial cytopathy

      ACTA NEUROPATHOLOGICA
    57. Lien, LM; Lee, HC; Wang, KL; Chiu, JC; Chiu, HC; Wei, YH
      Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA

      ACTA NEUROLOGICA SCANDINAVICA
    58. Napolitano, A; Salvetti, S; Vista, M; Lombardi, V; Siciliano, G; Giraldi, C
      Long-term treatment with idebenone and riboflavin in a patient with MELAS

      NEUROLOGICAL SCIENCES
    59. Akanuma, J; Muraki, K; Komaki, H; Nonaka, I; Goto, Y
      Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene

      JOURNAL OF HUMAN GENETICS
    60. De Joanna, G; Santorelli, FM; Casali, C; Brescia-Morra, V; Perretti, A; Santoro, L
      Combination of mtDNA mutations in a patient with a mitochondrial multisystem syndrome

      JOURNAL OF HUMAN GENETICS
    61. Chinnery, PF; Turnbull, DM
      Mitochondrial DNA mutations in the pathogenesis of human disease

      MOLECULAR MEDICINE TODAY
    62. Nakamura, S; Yoshinari, M; Wakisaka, M; Kodera, H; Doi, Y; Yoshizumi, H; Asano, T; Iwase, M; Mihara, F; Fujishima, M
      Ketoacidosis accompanied by epileptic seizures in a patient with diabetes mellitus and mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)

      DIABETES & METABOLISM
    63. Deschauer, M; Neudecker, S; Muller, T; Gellerich, FN; Zierz, S
      Higher proportion of mitochondrial A3243G mutation in blood than in skeletal muscle in a patient with cardiomyopathy and hearing loss

      MOLECULAR GENETICS AND METABOLISM
    64. Wei, YH; Kao, SH
      Mitochondrial DNA mutation and depletion are associated with decline of fertility and motility of human sperm

      ZOOLOGICAL STUDIES
    65. Lehtonen, MS; Uimonen, S; Hassinen, IE; Majamaa, K
      Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment

      EUROPEAN JOURNAL OF HUMAN GENETICS
    66. Lorda-Sanchez, I; Garcia-Ruiz, PJ; De Alba, MR; Montoya, J; Playan, A; Sarasa, JL; Trujillo, MJ; Sanz, R; Ramos, C; Ayuso, C
      A MELAS phenotype and a paternal inherited inversion of chromosome 10 in afemale patient

      GENETIC COUNSELING
    67. Fullard, KJ; Early, G; Heide-Jorgensen, MP; Bloch, D; Rosing-Asvid, A; Amos, W
      Population structure of long-finned pilot whales in the North Atlantic: a correlation with sea surface temperature?

      MOLECULAR ECOLOGY
    68. Poulton, J; Marchington, DR
      Progress in genetic counselling and prenatal diagnosis of maternally inherited mtDNA diseases

      NEUROMUSCULAR DISORDERS
    69. 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
    70. Schleiffer, T; 't Hart, LM; Schurfeld, C; Kraatz, K; Riemann, JF
      Maternally inherited diabetes and deafness (MIDD): unusual occult exocrinepancreatic manifestation in an affected German family

      EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
    71. 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
    72. Tanaka, K; Takada, Y; Matsunaka, T; Yuyama, S; Fujino, S; Maguchi, M; Yamashita, S; Yuba, I
      Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patientwith an A3243G mutation of the mitochondrial DNA

      INTERNAL MEDICINE
    73. Canadas, A; Sagarminaga, R
      The northeastern Alboran Sea, an important breeding and feeding ground forthe long-finned pilot whale (Globicephala melas) in the Mediterranean Sea

      MARINE MAMMAL SCIENCE
    74. Werth, A
      A kinematic study of suction feeding and associated behavior in the long-finned pilot whale, Globicephala melas (Traill)

      MARINE MAMMAL SCIENCE
    75. van Essen, EHR; Roep, BO; 't Hart, LM; Jansen, JJ; Van den Ouweland, JMW; Lemkes, HHPJ; Maassen, JA
      HLA-DQ polymorphism and degree of heteroplasmy of the A3243G mitochondrialDNA mutation in maternally inherited diabetes and deafness

      DIABETIC MEDICINE
    76. Argov, Z; Arnold, DL
      MR spectroscopy and mr imaging in metabolic myopathies

      NEUROLOGIC CLINICS
    77. Chinnery, PF; Taylor, DJ; Brown, DT; Manners, D; Styles, P; Lodi, R
      Very low levels of the mtDNA A3243G mutation associated with mitochondrialdysfunction in vivo

      ANNALS OF NEUROLOGY
    78. Chinnery, PF; Thorburn, DR; Samuels, DC; White, SL; Dahl, HHM; Turnbull, DM; Lightowlers, RN; Howell, N
      Phe inheritance of mitochondrial DNA heteroplasmy: random drift, selectionor both?

      TRENDS IN GENETICS
    79. Silvestri, G; Rana, M; Odoardi, F; Modoni, A; Paris, E; Papacci, M; Tonali, P; Servidei, S
      Single-fiber PCR in MELAS(3243) patients: Correlations between intratissuedistribution and phenotypic expression of the mtDNAA(3243G) genotype

      AMERICAN JOURNAL OF MEDICAL GENETICS
    80. Sato, Y; Nakagawa, M; Higuchi, I; Osame, M; Naito, E; Oizumi, K
      Mitochondrial myopathy and familial thiamine deficiency

      MUSCLE & NERVE
    81. Leonard, JV; Schapira, AHV
      Mitochondrial respiratory chain disorders I: mitochondrial DNA defects

      LANCET
    82. Drouet, A; Guilloton, L; Godinot, C; Rochet, D; Ribot, C; Carrier, H
      Complicated diabetes-deafness syndrome or association with a MELAS syndrome, in a patient harboring the mitochondrial DNA mutation at position 3243?

      REVUE NEUROLOGIQUE
    83. Uusimaa, J; Remes, AM; Rantala, H; Vainionpaa, L; Herva, R; Vuopala, K; Nuutinen, M; Majamaa, K; Hassinen, IE
      Childhood encephalopathies and myopathies: A prospective study in a defined population to assess the frequency of mitochondrial disorders

      PEDIATRICS
    84. Peng, NJ; Liu, RS; Li, JY; Tsay, DG; Kong, KW; Kwok, CG; Strauss, HW
      Increased cerebral blood flow in MELAS shown by Tc-99m HMPAO brain SPECT

      NEURORADIOLOGY
    85. Molnar, MJ; Valikovics, A; Molnar, S; Tron, L; Dioszeghy, P; Mechler, F; Gulyas, B
      Cerebral blood flow and glucose metabolism in mitochondrial disorders

      NEUROLOGY
    86. Buzzi, MG; Di Gennaro, G; D'Onofrio, M; Ciccarelli, O; Santorelli, FM; Fortini, D; Nappi, G; Nicoletti, F; Casali, C
      mtDNA A3243G: MELAS mutation is not associated with multigenerational female migraine

      NEUROLOGY
    87. Santorelli, FM; Villanova, M; Malandrini, A; Grieco, GS; Palmeri, S; Merlini, L; Casali, C
      Chronic diarrhea associated with the A3243G mtDNA mutation

      NEUROLOGY
    88. Nielsen, JB; Nielsen, F; Jorgensen, PJ; Grandjean, P
      Toxic metals and selenium in blood from pilot whales (Globicephala melas) and sperm whales (Physeter catodon)

      MARINE POLLUTION BULLETIN
    89. Das, K; Lepoint, G; Loizeau, V; Debacker, V; Dauby, P; Bouquegneau, JM
      Tuna and dolphin associations in the North-east Atlantic: Evidence of different ecological niches from stable isotope and heavy metal measurements

      MARINE POLLUTION BULLETIN
    90. Dam, M; Bloch, D
      Screening of mercury and persistent organochlorine pollutants in long-finned pilot whale (Globicephala melas) in the Faroe Islands

      MARINE POLLUTION BULLETIN
    91. Schmidbauer, JM; Voges, M; Kasmann-Kellner, B; Graf, N; Henn, W; Ruprecht, KW
      Hereditary occlusive cerebroretinal vasculopathy in two sisters

      KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE
    92. Schroder, R; Vielhaber, S; Wiedemann, FR; Kornblum, C; Papassotiropoulos, A; Broich, P; Zierz, S; Elger, CE; Reichmann, H; Seibel, P; Klockgether, T; Kunz, WS
      New insights into the metabolic consequences of large-scale mtDNA deletions: A quantitative analysis of biochemical, morphological, and genetic findings in human skeletal muscle

      JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
    93. McKee, DH; Cooper, PN; Denning, DW
      Invasive aspergillosis in a patient with MELAS syndrome

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    94. Zhong, S; Ng, MCY; Lo, YMD; Chan, JCN; Johnson, PJ
      Presence of mitochondrial tRNA (Leu(UUR)) A to G 3243 mutation in DNA extracted from serum and plasma of patients with type 2 diabetes mellitus

      JOURNAL OF CLINICAL PATHOLOGY
    95. Chomyn, A; Enriquez, JA; Micol, V; Fernandez-Silva, P; Attardi, G
      The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNA(Leu(UUR)) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes

      JOURNAL OF BIOLOGICAL CHEMISTRY
    96. Di Gennaro, G; Buzzi, MG; Ciccarelli, O; Santorelli, FM; Pierelli, F; Fortini, D; D'Onofrio, M; Costa, A; Nappi, G; Casali, C
      Assessing the relative incidence of mitochondrial DNA A3243G in migraine without aura with maternal inheritance

      HEADACHE
    97. 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
    98. Liou, CW; Huang, CC; Lin, TK; Tsai, JL; Wei, YH
      Correction of pancreatic beta-cell dysfunction with coenzyme Q(10) in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-likeepisodes syndrome and diabetes mellitus

      EUROPEAN NEUROLOGY
    99. Kelly, JF
      Stable isotopes of carbon and nitrogen in the study of avian and mammaliantrophic ecology

      CANADIAN JOURNAL OF ZOOLOGY-REVUE CANADIENNE DE ZOOLOGIE
    100. Chinnery, PF; Elliott, C; Green, GR; Rees, A; Coulthard, A; Turnbull, DM; Griffiths, TD
      The spectrum of hearing loss due to mitochondrial DNA defects

      BRAIN


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Documento generato il 28/05/20 alle ore 17:20:24