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La ricerca find articoli where soggetti phrase all words 'HEREDITARY OPTIC NEUROPATHY' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 432 riferimenti
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    1. Murphy, MP
      Development of lipophilic cations as therapies for disorders due to mitochondrial dysfunction

      EXPERT OPINION ON BIOLOGICAL THERAPY
    2. Finnila, S; Majamaa, K
      Phylogenetic analysis of mtDNA haplogroup TJ in a Finnish population

      JOURNAL OF HUMAN GENETICS
    3. 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
    4. Gomez-Zaera, M; Strom, TM; Rodriguez, B; Estivill, X; Meitinger, T; Nunes, V
      Presence of a major WFS1 mutation in Spanish wolfram syndrome pedigrees

      MOLECULAR GENETICS AND METABOLISM
    5. Wallace, DC
      Mitochondrial defects in neurodegenerative disease

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    6. Shanske, AL; Shanske, S; DiMauro, S
      The other human genome

      ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE
    7. Brega, A; Narula, J; Arbustini, E
      Functional, structural, and genetic mitochondrial abnormalities in myocardial diseases

      JOURNAL OF NUCLEAR CARDIOLOGY
    8. Khanim, F; Kirk, J; Latif, F; Barrett, TG
      WFS1/Wolframin mutations, Wolfram syndrome, and associated diseases

      HUMAN MUTATION
    9. Rose, G; Passarino, G; Carrieri, G; Altomare, K; Greco, V; Bertolini, S; Bonafe, M; Franceschi, C; De Benedictis, G
      Paradoxes in longevity: sequence analysis of mtDNA haplogroup J in centenarians

      EUROPEAN JOURNAL OF HUMAN GENETICS
    10. Legros, F; Chatzoglou, E; Frachon, P; de Baulny, HO; Laforet, P; Jardel, C; Godinot, C; Lombes, A
      Functional characterization of novel mutations in the human cytochrome b gene

      EUROPEAN JOURNAL OF HUMAN GENETICS
    11. 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
    12. Cohen, BH; Gold, DR
      Mitochondrial cytopathy in adults: What we know so far

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

      JOURNAL OF CHILD NEUROLOGY
    14. Friedman, J; Standaert, DG
      Dystonia and its disorders

      NEUROLOGIC CLINICS
    15. Opial, D; Boehnke, M; Tadesse, S; Lietz-Partzsch, A; Flammer, J; Munier, F; Mermoud, A; Hirano, M; Fluckiger, F; Mojon, DS
      Leber's hereditary optic neuropathy mitochondrial DNA mutations in normal-tension glaucoma

      GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
    16. Pantaleoni, C; D'Arrigo, S; Bagnasco, I; Piozzi, E; Carrara, F; Scaioli, V; Riva, D
      Papillitis as an onset sign of Leber's hereditary optic neuropathy: a casereport

      BRAIN & DEVELOPMENT
    17. 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
    18. Brown, MD; Zhadanov, S; Allen, JC; Hosseini, S; Newman, NJ; Atamonov, VV; Mikhailovskaya, IE; Sukernik, RI; Wallace, DC
      Novel mtDNA mutations and oxidative phosphorylation dysfunction in RussianLHON families

      HUMAN GENETICS
    19. 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
    20. Biousse, V; Newman, NJ
      Neuro-ophthalmology of mitochondrial diseases

      SEMINARS IN NEUROLOGY
    21. Gold, DR; Cohen, BH
      Treatment of mitochondrial cytopathies

      SEMINARS IN NEUROLOGY
    22. Huoponen, K; Schurr, TG; Chen, YS; Wallace, DC
      Mitochondrial DNA variation in an Aboriginal Australian population: Evidence for genetic isolation and regional differentiation

      HUMAN IMMUNOLOGY
    23. Pulkes, T; Hanna, MG
      Human mitochondrial DNA diseases

      ADVANCED DRUG DELIVERY REVIEWS
    24. 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
    25. Dimauro, S; Schon, EA
      Mitochondrial DNA mutations in human disease

      AMERICAN JOURNAL OF MEDICAL GENETICS
    26. Triepels, RH; Van den Heuvel, LP; Trijbels, JM; Smeitink, JA
      Respiratory chain complex I deficiency

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

      AMERICAN JOURNAL OF MEDICAL GENETICS
    28. Brown, MD; Allen, JC; Van Stavern, GP; Newman, NJ; Wallace, DC
      Clinical, genetic, and biochemical characterization of a leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations

      AMERICAN JOURNAL OF MEDICAL GENETICS
    29. Howell, N; Kubacka, I; McDonough, B; Hodess, AB; Harter, DH
      MtDNA analysis of Leber hereditary optic neuropathy associated with spondyloepiphyseal dysplasia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    30. Dupuis, A; Prieur, I; Lunardi, J
      Toward a characterization of the connecting module of complex I

      JOURNAL OF BIOENERGETICS AND BIOMEMBRANES
    31. Chomyn, A
      Mitochondrial genetic control, of assembly and function of complex I in mammalian cells

      JOURNAL OF BIOENERGETICS AND BIOMEMBRANES
    32. Wittig, I; Augstein, P; Brown, GK; Fujii, T; Rotig, A; Rustin, P; Munnich, A; Seibel, P; Thorburn, D; Wissinger, B; Tamboom, K; Metspalu, A; Lamantea, E; Zeviani, M; Wehnert, MS
      Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain

      JOURNAL OF INHERITED METABOLIC DISEASE
    33. 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
    34. Solano, A; Playan, A; Lopez-Perez, MJ; Montoya, J
      Genetic diseases of the mitochondrial DNA.

      SALUD PUBLICA DE MEXICO
    35. Rodriguez-Hernandez, M; Hirano, M; Naini, A; Santiesteban, R
      Biochemical studies of patients with Cuban epidemic neuropathy

      OPHTHALMIC RESEARCH
    36. Riggs, JE; Ellis, BD; Hogg, JP; Al-Azzaz, A; Schochet, SS
      Acute periaqueductal syndrome associated with the G11778A mitochondrial DNA mutation

      NEUROLOGY
    37. Aguilera, I; Garcia-Lozano, JR; Munoz, A; Arenas, J; Campos, Y; Chinchon, I; Roldan, AN; Bautista, J
      Mitochondrial DNA point mutation in the COI gene in a patient with McArdle's disease

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    38. Inglese, M; Rovaris, M; Bianchi, S; Comi, G; Filippi, M
      Magnetization transfer and diffusion tensor MR imaging of the optic radiations and calcarine cortex from patients with Leber's hereditary optic neuropathy

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    39. Vogel, H
      Mitochondrial myopathies and the role of the pathologist in the molecular era

      JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
    40. Inglese, M; Rovaris, M; Bianchi, S; La Mantia, L; Mancardi, GL; Ghezzi, A; Montagna, P; Salvi, F; Filippi, M
      Magnetic resonance imaging, magnetisation transfer imaging, and diffusion weighted imaging correlates of optic nerve, brain, and cervical cord damagein Leber's hereditary optic neuropathy

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    41. Klivenyi, P; Karg, E; Rozsa, C; Horvath, R; Komoly, S; Nemeth, I; Turi, S; Vecsei, L
      alpha-Tocopherol/lipid ratio in blood is decreased in patients with Leber's hereditary optic neuropathy and asymptomatic carriers of the 11778 mtDNA mutation

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    42. Finnila, S; Autere, J; Lehtovirta, M; Hartikainen, P; Mannermaa, A; Soininen, H; Majamaa, K
      Increased risk of sensorineural hearing loss and migraine in patients witha rare mitochondrial DNA variant 4336A > G in tRNA(Gln)

      JOURNAL OF MEDICAL GENETICS
    43. Simon, DK; Tarnopolsky, MA; Greenamyre, JT; Johns, DR
      A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic!

      JOURNAL OF MEDICAL GENETICS
    44. Clay, AS; Behnia, M; Brown, KK
      Mitochondrial disease - A pulmonary and critical-care medicine perspective

      CHEST
    45. 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
    46. Sternberg, D; Chatzoglou, E; Laforet, P; Fayet, G; Jardel, C; Blondy, P; Fardeau, M; Amselem, S; Eymard, B; Lombes, A
      Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders

      BRAIN
    47. Chinnery, PF; Brown, DT; Andrews, RM; Singh-Kler, R; Riordan-Eva, P; Lindley, J; Applegarth, DA; Turnbull, DM; Howell, N
      The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy

      BRAIN
    48. Makino, M; Horai, S; Goto, Y; Nonaka, I
      Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications

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

      MOLECULAR MEDICINE TODAY
    50. Schapira, AHV
      Mitochondrial disorders

      CURRENT OPINION IN NEUROLOGY
    51. Parker, WD; Swerdlow, R
      Mitochondrial genes and neurodegenerative disorders

      JOURNAL OF CLINICAL LIGAND ASSAY
    52. Givre, SJ; Wall, M; Kardon, RH
      Visual loss and recovery in a patient with Friedreich ataxia

      JOURNAL OF NEURO-OPHTHALMOLOGY
    53. Mashima, Y; Kigasawa, K; Wakakura, M; Oguchi, Y
      Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy?

      JOURNAL OF NEURO-OPHTHALMOLOGY
    54. Loeffen, JLCM; Smeitink, JAM; Trijbels, JMF; Janssen, AJM; Triepels, RH; Sengers, RCA; van den Heuvel, LP
      Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects

      HUMAN MUTATION
    55. Fuqua, JS
      Wolfram syndrome: Clinical and genetic aspects

      ENDOCRINOLOGIST
    56. DiMauro, S; Andreu, AL
      Mutations in mtDNA: Are we scraping the bottom of the barrel?

      BRAIN PATHOLOGY
    57. Manfredi, G; Beal, MF
      The role of mitochondria in the pathogenesis of neurodegenerative diseases

      BRAIN PATHOLOGY
    58. Leo-Kottler, B; Jacobi, F; Christ-Adler, M
      Leber's hereditary optic neuropathy with spontaneous recovery

      OPHTHALMOLOGE
    59. Besch, D; Wissinger, B; Zrenner, E; Leo-Kottler, B
      A case of liver optic neuropathy with a new point mutation in the cytochrome b gene

      OPHTHALMOLOGE
    60. 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
    61. Nissenkorn, A; Zeharia, A; Lev, D; Watemberg, N; Fattal-Valevski, A; Barash, V; Gutman, A; Harel, S; Lerman-Sagie, T
      Neurologic presentations of mitochondrial disorders

      JOURNAL OF CHILD NEUROLOGY
    62. Rana, M; de Coo, I; Diaz, F; Smeets, H; Moraes, CT
      An out-of-frame cytochrome b gene deletion from a patient with parkinsonism is associated with impaired complex III assembly and an increase in free radical production

      ANNALS OF NEUROLOGY
    63. Chinnery, PF; Johnson, MA; Wardell, TM; Singh-Kler, R; Hayes, C; Brown, DT; Taylor, RW; Bindoff, LA; Turnbull, DM
      The epidemiology of pathogenic mitochondrial DNA mutations

      ANNALS OF NEUROLOGY
    64. Kirby, DM; Kahler, SG; Freckmann, ML; Reddihough, D; Thorburn, DR
      Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

      ANNALS OF NEUROLOGY
    65. Triepels, R; Smeitink, J; Loeffen, J; Smeets, R; Trijbels, F; van den Heuvel, L
      Characterization of the human complex INDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients

      HUMAN GENETICS
    66. Naviaux, RK
      Mitochondrial DNA disorders

      EUROPEAN JOURNAL OF PEDIATRICS
    67. Vanopdenbosch, L; Dubois, B; D'Hooghe, MB; Meire, F; Carton, H
      Mitochondrial mutations of Leber's hereditary optic neuropathy: a risk factor for multiple sclerosis

      JOURNAL OF NEUROLOGY
    68. Bai, YD; Shakeley, RM; Attardi, G
      Tight control of respiration by NADH dehydrogenase ND5 subunit gene expression in mouse mitochondria

      MOLECULAR AND CELLULAR BIOLOGY
    69. Hwang, JM; Lee, YJ; Kim, MK
      Statistics of optic neuropathy in Seoul Municipal Boramae Hospital in Korea

      NEURO-OPHTHALMOLOGY
    70. Hwang, JM; Lee, JJ; Chang, BL; Park, SS
      Visual prognosis of Leber's hereditary optic neuropathy with 14484/ND6 mutation in Koreans

      NEURO-OPHTHALMOLOGY
    71. Minatogawa, Y; Sugimoto, A; Tatsumi, K; Miyazaki, S; Tabuchi, A
      Genetic screening of Leber's hereditary optic neuropathy by PCR with wholeblood cell lysate

      NEURO-OPHTHALMOLOGY
    72. Kirchner, SC; Hallagan, SE; Farin, FM; Dilley, J; Costa-Mallen, P; Smith-Weller, T; Franklin, GM; Swanson, PD; Checkoway, H
      Mitochondrial ND1 sequence analysis and association of the T4216C mutationwith Parkinson's disease

      NEUROTOXICOLOGY
    73. 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
    74. Leonard, JV; Schapira, AHV
      Mitochondrial respiratory chain disorders I: mitochondrial DNA defects

      LANCET
    75. Hayasaka, Y; Hayasaka, S; Hiraki, S; Kadoi, C; Nagaki, Y; Matsumoto, M
      Serum methanol levels in subjects with or without optic nerve head disease

      OPHTHALMIC RESEARCH
    76. Simon, DK; Mayeux, R; Marder, K; Kowall, NW; Beal, MF; Johns, DR
      Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson's disease

      NEUROLOGY
    77. Howell, N; Ghosh, SS; Fahy, E; Bindoff, LA
      Longitudinal analysis of the segregation of mtDNA mutations in heteroplasmic individuals

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    78. Talpade, DJ; Greene, JG; Higgins, DS; Greenamyre, JT
      In vivo labeling of mitochondrial complex I (NADH : ubiquinone oxidoreductase) in rat brain using [H-3]dihydrorotenone

      JOURNAL OF NEUROCHEMISTRY
    79. Pettus, EH; Betarbet, R; Cottrell, B; Wallace, DC; Madyastha, V; Greenamyre, JT
      Immunocytochemical characterization of the mitochondrially encoded ND1 subunit of complex I (NADH : ubiquinone oxidoreductase) in rat brain

      JOURNAL OF NEUROCHEMISTRY
    80. Barrett, TG; Scott-Brown, M; Seller, A; Bednarz, A; Poulton, K; Poulton, J
      The mitochondrial genome in Wolfram syndrome

      JOURNAL OF MEDICAL GENETICS
    81. McKenzie, M; Trounce, I
      Expression of Rattus norvegicus mtDNA in Mus musculus cells results in multiple respiratory chain defects

      JOURNAL OF BIOLOGICAL CHEMISTRY
    82. Finsterer, J; Bittner, R; Bodingbauer, M; Eichberger, H; Stollberger, C; Blazek, G
      Complex mitochondriopathy associated with 4 mtDNA transitions

      EUROPEAN NEUROLOGY
    83. Jarreta, D; Orus, J; Barrientos, A; Miro, O; Roig, E; Heras, M; Moraes, CT; Cardellach, F; Casademont, J
      Mitochondrial function in heart muscle from patients with idiopathic dilated cardiomyopathy

      CARDIOVASCULAR RESEARCH
    84. Ahlers, PM; Garofano, A; Kerscher, SJ; Brandt, U
      Application of the obligate aerobic yeast Yarrowia lipolytica as a eucaryotic model to analyse Leigh syndrome mutations in the complex I core subunits PSST and TYKY

      BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
    85. Carta, A; D'Adda, T; Carrara, F; Zeviani, M
      Ultrastructural analysis of extraocular muscle in chronic progressive external ophthalmoplegia

      ARCHIVES OF OPHTHALMOLOGY
    86. Kerrison, JB; Lynn, MJ; Baer, CA; Newman, SA; Biousse, V; Newman, NJ
      Stages of improvement in visual fields after pituitary tumor resection

      AMERICAN JOURNAL OF OPHTHALMOLOGY
    87. Moore, FL; Reijo-Pera, RA
      Male sperm motility dictated by mother's mtDNA

      AMERICAN JOURNAL OF HUMAN GENETICS
    88. Ruiz-Pesini, E; Lapena, AC; Diez-Sanchez, C; Perez-Martos, A; Montoya, J; Alvarez, E; Diaz, M; Urrieis, A; Montoro, L; Lopez-Perez, MJ; Enriquez, JA
      Human mtDNA haplogroups associated with high or reduced spermatozoa motility

      AMERICAN JOURNAL OF HUMAN GENETICS
    89. Wallace, DC
      Mitochondrial defects in cardiomyopathy and neuromuscular disease

      AMERICAN HEART JOURNAL
    90. Bauer, MF; Gempel, K; Hofmann, S; Jaksch, M; Philbrook, C; Gerbitz, KD
      Mitochondrial disorders. A diagnostic challenge in clinical chemistry

      CLINICAL CHEMISTRY AND LABORATORY MEDICINE
    91. Hanna, MG; Nelson, IP
      Genetics and molecular pathogenesis of mitochondrial respiratory chain diseases

      CELLULAR AND MOLECULAR LIFE SCIENCES
    92. Vaphiades, MS; Newman, NJ
      Optic nerve enhancement on orbital magnetic resonance imaging in Leber's hereditary optic neuropathy

      JOURNAL OF NEURO-OPHTHALMOLOGY
    93. Yoshitomi, T; Matsui, T; Tanakadate, A; Ishikawa, S
      Comparison of threshold visual perimetry and objective pupil perimetry in clinical patients

      JOURNAL OF NEURO-OPHTHALMOLOGY
    94. Balcer, LJ; Galetta, SL
      Neuro-ophthalmology of the pregeniculate afferent visual system - December, 1997-May, 1998 (Part I)

      JOURNAL OF NEURO-OPHTHALMOLOGY
    95. Bhatti, MT; Newman, NJ
      A multiple sclerosis-like illness in a man harboring the mtDNA 14484 mutation

      JOURNAL OF NEURO-OPHTHALMOLOGY
    96. Andrews, RM; Kubacka, I; Chinnery, PF; Lightowlers, RN; Turnbull, DM; Howell, N
      Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

      NATURE GENETICS
    97. Thyagarajan, D
      Dystonia: recent advances

      JOURNAL OF CLINICAL NEUROSCIENCE
    98. Eyre-Walker, A; Smith, NH; Smith, JM
      How clonal are human mitochondria?

      PROCEEDINGS OF THE ROYAL SOCIETY OF LONDON SERIES B-BIOLOGICAL SCIENCES
    99. Graff, C; Clayton, DA; Larsson, NG
      Mitochondrial medicine - recent advances

      JOURNAL OF INTERNAL MEDICINE
    100. Leo-Kottler, B; Christ-Adler, M
      Leber's hereditary optic neuropathy (LHON) in women and children

      OPHTHALMOLOGE


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Documento generato il 31/05/20 alle ore 07:30:21