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La ricerca find articoli where soggetti phrase all words 'KEARNS-SAYRE-SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 413 riferimenti
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    1. Barrett, TG
      Mitochondrial diabetes, DIDMOAD and other inherited diabetes syndromes

      BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
    2. Berdanier, CD; Everts, HB
      Mitochondrial DNA in aging and degenerative disease

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    3. Larner, AJ; Williamson, C; Ward, NS; Acheson, JF; Robinson, S; Farmer, SF
      Isolated familial hypomagnesaemia with novel neurological features: causallink or chance concurrence?

      EUROPEAN JOURNAL OF NEUROLOGY
    4. Wong, LJC
      Recognition of mitochondrial DNA deletion syndrome with non-neuromuscular multisystemic manifestation

      GENETICS IN MEDICINE
    5. Shanske, AL; Shanske, S; DiMauro, S
      The other human genome

      ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE
    6. 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
    7. Cohen, BH; Gold, DR
      Mitochondrial cytopathy in adults: What we know so far

      CLEVELAND CLINIC JOURNAL OF MEDICINE
    8. Strauer, BE; Kandolf, R; Mall, G; Maisch, B; Mertens, T; Figulla, HR; Schwartzkopff, B; Brehm, M; Schultheiss, HP
      Myocarditis - Dilated cardiomyopathy: Update 2001

      MEDIZINISCHE KLINIK
    9. Bai, UM; Seidman, MD
      A specific mitochondrial DNA deletion (mtDNA(4977)) is identified in a pedigree of a family with hearing loss

      HEARING RESEARCH
    10. Barthelemy, C; de Baulny, HO; Diaz, J; Cheval, MA; Frachon, P; Romero, N; Goutieres, F; Fardeau, M; Lombes, A
      Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation

      ANNALS OF NEUROLOGY
    11. Sciacco, M; Prelle, A; Comi, GP; Napoli, L; Battistel, A; Bresolin, N; Tancredi, L; Lamperti, C; Bordoni, A; Fagiolari, G; Ciscato, P; Chiveri, L; Perini, MP; Fortunato, F; Adobbati, L; Messina, S; Toscano, A; Martinelli-Boneschi, F; Papadimitriou, A; Scarlato, G; Moggio, M
      Retrospective study of patients affected of a large population with mitochondrial disorders: clinical, morphological and molecular genetic evaluation

      JOURNAL OF NEUROLOGY
    12. Shoffner, JM
      An introduction: Oxidative phosphorylation diseases

      SEMINARS IN NEUROLOGY
    13. DiMauro, S; Andreu, AL; Musumeci, O; Bonilla, E
      Diseases of oxidative phosphorylation due to mtDNA mutations

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

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

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

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

      SEMINARS IN NEUROLOGY
    18. Sorensen, L; Ekstrand, M; Silva, JP; Lindqvist, E; Xu, BJ; Rustin, P; Olson, L; Larsson, NG
      Late-onset corticohippocampal neurodepletion attributable to catastrophic failure of oxidative phosphorylation in MILON mice

      JOURNAL OF NEUROSCIENCE
    19. Hirano, M; Davidson, M; DiMauro, S
      Mitochondria and the heart

      CURRENT OPINION IN CARDIOLOGY
    20. Wisely, NA; Cook, PR
      General anaesthesia in a man with mitochondrial myopathy undergoing eye surgery

      EUROPEAN JOURNAL OF ANAESTHESIOLOGY
    21. Katsanos, KH; Elisaf, M; Bairaktari, E; Tsianos, EV
      Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome

      AMERICAN JOURNAL OF NEPHROLOGY
    22. Muraki, K; Sakura, N; Ueda, H; Kihara, H; Goto, Y
      Clinical implications of duplicated mtDNA in Pearson syndrome

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

      AMERICAN JOURNAL OF MEDICAL GENETICS
    24. Dimauro, S; Schon, EA
      Mitochondrial DNA mutations in human disease

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

      AMERICAN JOURNAL OF MEDICAL GENETICS
    26. Nardin, RA; Johns, DR
      Mitochondrial dysfunction and neuromuscular disease

      MUSCLE & NERVE
    27. Vlay, SC; Vlay, LC; Coyle, PK
      Combined cardiomyopathy and skeletal myopathy: A variant with atrial fibrillation and ventricular tachycardia

      PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY
    28. Sandbach, JM; Coscun, PE; Grossniklaus, HE; Kokoszka, JE; Newman, NJ; Wallace, DC
      Ocular pathology in mitochondrial superoxide dismutase (Sod2)-deficient mice

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    29. Tanji, K; Bonilla, E
      Optical imaging techniques (Histochemical, immunohistochemical, and in situ hybridization staining methods) to visualize mitochondria

      METHODS IN CELL BIOLOGY, VOL 65
    30. Terasaki, F; Tanaka, M; Kawamura, K; Kanzaki, Y; Okabe, M; Hayashi, T; Shimomura, H; Ito, T; Suwa, M; Gong, JS; Zhang, J; Kitaura, Y
      A case of cardiomyopathy showing progression from the hypertrophic to the dilated form - Association of Mt8348A -> G mutation in the mitochondrial tRNA(Lys) gene with severe ultrastructural alterations of mitochondria in cardiomyocytes

      JAPANESE CIRCULATION JOURNAL-ENGLISH EDITION
    31. Solano, A; Playan, A; Lopez-Perez, MJ; Montoya, J
      Genetic diseases of the mitochondrial DNA.

      SALUD PUBLICA DE MEXICO
    32. Zwirner, P; Wilichowski, E
      Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies

      LARYNGOSCOPE
    33. Ten, S; New, M; Maclaren, N
      Addison's disease 2001

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    34. Clay, AS; Behnia, M; Brown, KK
      Mitochondrial disease - A pulmonary and critical-care medicine perspective

      CHEST
    35. Marin-Garcia, J; Goldenthal, MJ; Moe, GW
      Mitochondrial pathology in cardiac failure

      CARDIOVASCULAR RESEARCH
    36. 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
    37. Larsson, NG; Oldfors, A
      Mitochondrial myopathies

      ACTA PHYSIOLOGICA SCANDINAVICA
    38. DiMauro, S; Hirano, M; Schon, EA
      Mitochondrial encephalomyopathies: therapeutic approaches

      NEUROLOGICAL SCIENCES
    39. Lopez, ME; Van Zeeland, NL; Dahl, DB; Weindruch, R; Aiken, JM
      Cellular phenotypes of age-associated skeletal muscle mitochondrial abnormalities in rhesus monkeys

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    40. Chinnery, PF; Turnbull, DM
      Mitochondrial DNA mutations in the pathogenesis of human disease

      MOLECULAR MEDICINE TODAY
    41. Fernandez-Moreno, MA; Bornstein, B; Petit, N; Garesse, R
      The pathophysiology of mitochondrial biogenesis: Towards four decades of mitochondrial DNA research

      MOLECULAR GENETICS AND METABOLISM
    42. Tang, YY; Manfredi, G; Hirano, M; Schon, EA
      Maintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines

      MOLECULAR BIOLOGY OF THE CELL
    43. Tang, YY; Schon, EA; Wilichowski, E; Vazquez-Memije, ME; Davidson, E; King, MP
      Rearrangements of human mitochondrial DNA (mtDNA): New insights into the regulation of mtDNA copy number and gene expression

      MOLECULAR BIOLOGY OF THE CELL
    44. van den Ouweland, JMW; de Klerk, JBC; van de Corput, MP; Dirks, RW; Raap, AK; Scholte, HR; Huijmans, JGM; Hart, LMT; Bruining, GJ; Maassen, JA
      Characterization of a novel mitochondrial DNA deletion in a patient with avariant of the Pearson marrow-pancreas syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    45. DiMauro, S; Andreu, AL
      Mutations in mtDNA: Are we scraping the bottom of the barrel?

      BRAIN PATHOLOGY
    46. Sue, CM; Schon, EA
      Mitochondrial respiratory chain diseases and mutations in nuclear DNA: A promising start?

      BRAIN PATHOLOGY
    47. Dey, R; Tengan, CH; Morita, MPA; Kiyomoto, BH; Moraes, CT
      A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(Gln) anticodon loop

      NEUROMUSCULAR DISORDERS
    48. Guertl, B; Noehammer, C; Hoefler, G
      Metabolic cardiomyopathies

      INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY
    49. 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
    50. Marin-Garcia, J; Goldenthal, MJ
      Mitochondrial biogenesis defects and neuromuscular disorders

      PEDIATRIC NEUROLOGY
    51. Balestri, P; Grosso, S
      Endocrine disorders in two sisters affected by MELAS syndrome

      JOURNAL OF CHILD NEUROLOGY
    52. Shoffner, JM
      Mitochondrial myopathy diagnosis

      NEUROLOGIC CLINICS
    53. Choi, C; Sunwoo, IN; Kim, HS; Kim, DI
      Transient improvement of pyruvate metabolism after coenzyme Q therapy in Kearns-Sayre syndrome: MRS study

      YONSEI MEDICAL JOURNAL
    54. Naviaux, RK
      Mitochondrial DNA disorders

      EUROPEAN JOURNAL OF PEDIATRICS
    55. Vaidya, B; Pearce, S; Kendall-Taylor, P
      Recent advances in the molecular genetics of congenital and acquired primary adrenocortical failure

      CLINICAL ENDOCRINOLOGY
    56. Graff, C; Wredenberg, A; Silva, JP; Bui, TH; Borg, K; Larsson, NG
      Complex genetic counselling and prenatal analysis in a woman with externalophthalmoplegia and deleted mtDNA

      PRENATAL DIAGNOSIS
    57. 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
    58. Nikulina, SY; Shulman, VA; Vorotnikova, YV; Matyushin, GV
      New data on etiology of heart conduction disturbances

      TERAPEVTICHESKII ARKHIV
    59. Laforet, P; Ziegler, F; Sternberg, D; Rouche, A; Frachon, P; Fardeau, M; Eymard, B; Lombes, A
      MELAS (A3243G) mutation of mitochondrial DNA: a study of the relationshipsbetween the clinical phenotype in 19 patients and morphological and molecular data.

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

      NEUROLOGY
    61. Tanji, K; Schon, EA; DiMauro, S; Bonilla, E
      Kearns-Sayre syndrome: oncocytic transformation of choroid plexus epithelium

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    62. Moslemi, AR; Selimovic, N; Bergh, CH; Oldfors, A
      Fatal dilated cardiomyopathy associated with a mitochondrial DNA deletion

      CARDIOLOGY
    63. 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
    64. Houstek, J
      Genetic aspects of mitochondrial encephalomyoptahies

      BIOLOGIA
    65. Carta, A; D'Adda, T; Carrara, F; Zeviani, M
      Ultrastructural analysis of extraocular muscle in chronic progressive external ophthalmoplegia

      ARCHIVES OF OPHTHALMOLOGY
    66. Wallace, DC
      Mitochondrial defects in cardiomyopathy and neuromuscular disease

      AMERICAN HEART JOURNAL
    67. Harman, D
      Alzheimer's disease: A hypothesis on pathogenesis

      JOURNAL OF THE AMERICAN AGING ASSOCIATION
    68. Hofhaus, G; Gattermann, N
      Mitochondria harbouring mutant mtDNA - a cuckoo in the nest?

      BIOLOGICAL CHEMISTRY
    69. Wang, JM; Wilhelmsson, H; Graff, C; Li, H; Oldfors, A; Rustin, P; Bruning, JC; Kahn, CR; Clayton, DA; Barsh, GS; Thoren, P; Larsson, NG
      Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression

      NATURE GENETICS
    70. Houshmand, M; Lindberg, C; Moslemi, AR; Oldfors, A; Holme, E
      A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encepharomyopathy: De novo mutation and no transmission to the offspring

      HUMAN MUTATION
    71. Graff, C; Clayton, DA; Larsson, NG
      Mitochondrial medicine - recent advances

      JOURNAL OF INTERNAL MEDICINE
    72. Andrews, RM; Griffiths, PG; Chinnery, PF; Turnbull, DM
      Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome

      EYE
    73. Pang, CY; Huang, CC; Yen, MY; Wang, EK; Kao, KP; Chen, SS; Wei, YH
      Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in Taiwan

      JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
    74. Marcelino, LA; Thilly, WG
      Mitochondrial mutagenesis in human cells and tissues

      MUTATION RESEARCH-DNA REPAIR
    75. Zeng, ZH; Zhang, ZY; Yu, HS; Corbley, MJ; Tang, ZQ; Tong, T
      Mitochondrial DNA deletions are associated with ischemia and aging in Balbc mouse brain

      JOURNAL OF CELLULAR BIOCHEMISTRY
    76. Seyrantepe, V; Kale, G; Topaloglu, H; Alikasifoglu, A; Ozguc, M
      Common deletion of mitochondrial DNA in a 5-year-old girl with failure to thrive, ptosis, ophthalmoplegia and ragged-red fibers

      BRAIN & DEVELOPMENT
    77. Damore, ME; Speiser, PW; Slonim, AE; New, MI; Shanske, S; Xia, WL; Santorelli, FM; DiMauro, S
      Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: Patient report and literature review

      JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
    78. Lakshmipathy, U; Campbell, C
      Double strand break rejoining by mammalian mitochondrial extracts

      NUCLEIC ACIDS RESEARCH
    79. Khrapko, K; Bodyak, N; Thilly, WG; van Orsouw, NJ; Zhang, XM; Coller, HA; Perls, TT; Upton, M; Vijg, J; Wei, JY
      Cell-by-cell scanning of whole mitochondrial genomes in aged human heart reveals a significant fraction of myocytes with clonally expanded deletions

      NUCLEIC ACIDS RESEARCH
    80. Hart, PE; Schapira, AHV
      Mitochondria: Aspects for neuroprotection

      DRUG DEVELOPMENT RESEARCH
    81. Shoffner, JM
      Oxidative phosphorylation disease diagnosis

      SEMINARS IN NEUROLOGY
    82. Cahill, A; Stabley, GJ; Wang, XL; Hoek, JB
      Chronic ethanol consumption causes alterations in the structural integrityof mitochondrial DNA in aged rats

      HEPATOLOGY
    83. Bogliolo, M; Izzotti, A; De Flora, S; Carli, C; Abbondandolo, A; Degan, P
      Detection of the '4977 bp' mitochondrial DNA deletion in human atherosclerotic lesions

      MUTAGENESIS
    84. Smith, PR; Bain, SC; Good, PA; Hattersley, AT; Barnett, AH; Gibson, JM; Dodson, PM
      Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation

      OPHTHALMOLOGY
    85. Korres, SG; Manta, PB; Balatsouras, DG; Papageorgiou, CT
      Audiological assessment in patients with mitochondrial myopathy

      SCANDINAVIAN AUDIOLOGY
    86. Simon, DK; Johns, DR
      Mitochondrial disorders: Clinical and genetic features

      ANNUAL REVIEW OF MEDICINE
    87. Becher, MW; Wills, ML; Noll, WM; Hurko, O; Price, DL
      Kearns-Sayre syndrome with features of Pearson's marrow-pancreas syndrome and a novel 2905-base pair mitochondrial DNA deletion

      HUMAN PATHOLOGY
    88. Wallace, DC
      Mitochondrial diseases in man and mouse

      SCIENCE
    89. Tulinius, MH
      Mitochondrial myopathies. Clinical and diagnostic aspects

      SCANDINAVIAN JOURNAL OF REHABILITATION MEDICINE
    90. Barrera-Ramirez, CF; Barragan-Campos, HM; Sanchez-Guerrero, J; Garcia-Ramos, G; Vega-Boada, F; Estanol, B
      The other genome: Clinical spectrum of mitochondrial cytopathies or oxidative phosphorylation diseases

      REVISTA DE INVESTIGACION CLINICA
    91. Chu, BC; Terae, S; Takahashi, C; Kikuchi, Y; Miyasaka, K; Abe, S; Minowa, K; Sawamura, T
      MRI of the brain in the Kearns-Sayre syndrome: report of four cases and a review

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

      NEUROLOGY
    93. Tanji, K; DiMauro, S; Bonilla, E
      Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    94. Chinnery, PF; Howell, N; Andrews, RM; Turnbull, DM
      Clinical mitochondrial genetics

      JOURNAL OF MEDICAL GENETICS
    95. Rossignol, R; Malgat, M; Mazat, JP; Letellier, T
      Threshold effect and tissue specificity - Implication for mitochondrial cytopathies

      JOURNAL OF BIOLOGICAL CHEMISTRY
    96. Heddi, A; Stepien, G; Benke, PJ; Wallace, DC
      Coordinate induction of energy gene expression in tissues of mitochondrialdisease patients

      JOURNAL OF BIOLOGICAL CHEMISTRY
    97. Kelly, J; Maumenee, IH
      Hereditary macular diseases

      INTERNATIONAL OPHTHALMOLOGY CLINICS
    98. Schapira, AHV; Cock, HR
      Mitochondrial myopathies and encephalomyopathies

      EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
    99. Chowers, I; Lerman-Sagie, T; Elpeleg, ON; Shaag, A; Merin, S
      Cone and rod dysfunction in the NARP syndrome

      BRITISH JOURNAL OF OPHTHALMOLOGY
    100. Morgan-Hughes, JA; Hanna, MG
      Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype

      BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS


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Documento generato il 27/05/20 alle ore 12:49:28