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La ricerca find articoli where soggetti phrase all words 'LEIGH-SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 131 riferimenti
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    1. Smeitink, J; van den Heuvel, L; DiMauro, S
      The genetics and pathology of oxidative phosphorylation

      NATURE REVIEWS GENETICS
    2. Zeviani, M; Klopstock, T
      Mitochondrial disorders

      CURRENT OPINION IN NEUROLOGY
    3. Bennett, CL; Chance, PF
      Molecular pathogenesis of hereditary motor, sensory and autonomic neuropathies

      CURRENT OPINION IN NEUROLOGY
    4. Williams, SL; Taanman, JW; Hansikova, H; Houst'kova, H; Chowdhury, S; Zeman, J; Houstek, J
      A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient Leigh syndrome and hypertrichosis

      MOLECULAR GENETICS AND METABOLISM
    5. Pequignot, MO; Dey, R; Zeviani, M; Tiranti, V; Godinot, C; Poyau, A; Sue, C; Di Mauro, S; Abitbol, M; Marsac, C
      Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency

      HUMAN MUTATION
    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. Shoubridge, EA
      Nuclear genetic defects of oxidative phosphorylation

      HUMAN MOLECULAR GENETICS
    8. Rahman, S; Brown, RM; Chong, WK; Wilson, CJ; Brown, GK
      A SURF1 gene mutation presenting as isolated leukodystrophy

      ANNALS OF NEUROLOGY
    9. Darin, N; Oldfors, A; Moslemi, AR; Holme, E; Tulinius, M
      The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities

      ANNALS OF NEUROLOGY
    10. Loeffen, J; Elpeleg, O; Smeitink, J; Smeets, R; Stockler-Ipsiroglu, S; Mandel, H; Sengers, R; Trijbels, F; van den Heuvel, L
      Mutations in the complex INDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

      ANNALS OF NEUROLOGY
    11. Forsha, D; Church, C; Wazny, P; Poyton, RO
      Structure and function of Pet100p, a molecular chaperone required for the assembly of cytochrome c oxidase in Saccharomyces cerevisiae

      BIOCHEMICAL SOCIETY TRANSACTIONS
    12. Taanman, JW; Williams, SL
      Assembly of cytochrome c oxidase: what can we learn from patients with cytochrome c oxidase deficiency?

      BIOCHEMICAL SOCIETY TRANSACTIONS
    13. Shoubridge, EA
      Nuclear gene defects in respiratory chain disorders

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

      SEMINARS IN NEUROLOGY
    15. Niers, LEM; Smeitink, JAM; Trijbels, JMF; Sengers, RCA; Janssen, AJM; van den Heuvel, LP
      Prenatal diagnosis of NADH : ubiquinone oxidoreductase deficiency

      PRENATAL DIAGNOSIS
    16. 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
    17. Triepels, RH; Van den Heuvel, LP; Trijbels, JM; Smeitink, JA
      Respiratory chain complex I deficiency

      AMERICAN JOURNAL OF MEDICAL GENETICS
    18. Shoubridge, EA
      Cytochrome c oxidase deficiency

      AMERICAN JOURNAL OF MEDICAL GENETICS
    19. Kerscher, S; Kashani-Poor, N; Zwicker, K; Zickermann, V; Brandt, U
      Exploring the catalytic core of complex I by Yarrowia lipolytica yeast genetics

      JOURNAL OF BIOENERGETICS AND BIOMEMBRANES
    20. Videira, A; Duarte, M
      On complex I and other NADH : Ubiquinone reductases of Neurospora crassa mitochondria

      JOURNAL OF BIOENERGETICS AND BIOMEMBRANES
    21. Goto, Y
      Clinical and molecular studies of mitochondrial disease

      JOURNAL OF INHERITED METABOLIC DISEASE
    22. 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
    23. Manfredi, G; Spinazzola, A; Checcarelli, N; Naini, A
      Assay of mitochondrial ATP synthesis in animal cells

      METHODS IN CELL BIOLOGY, VOL 65
    24. Jaksch, M; Horvath, R; Horn, N; Auer, DP; Macmillan, C; Peters, J; Gerbitz, KD; Kraegeloh-Mann, I; Muntau, A; Karcagi, V; Kalmanchey, R; Lochmuller, H; Shoubridge, EA; Freisinger, P
      Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

      NEUROLOGY
    25. Williams, SL; Scholte, HR; Gray, RGF; Leonard, JV; Schapira, AHV; Taanman, JW
      Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit

      LABORATORY INVESTIGATION
    26. Jaksch, M; Kleinle, S; Scharfe, C; Klopstock, T; Pongratz, D; Muller-Hocker, J; Gerbitz, KD; Liechti-Gallati, S; Lochmuller, H; Horvath, R
      Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies

      JOURNAL OF MEDICAL GENETICS
    27. Triepels, RH; Hanson, BJ; van den Heuvel, LP; Sundell, L; Marusich, MF; Smeitink, JA; Capaldi, RA
      Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns

      JOURNAL OF BIOLOGICAL CHEMISTRY
    28. Nijtmans, LGJ; Sanz, MA; Bucko, M; Farhoud, MH; Feenstra, M; Hakkaart, GAJ; Zeviani, M; Grivell, LA
      Shy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast

      FEBS LETTERS
    29. Wasniewska, M; Karczmarewicz, E; Pronicki, M; Piekutowska-Abramczuk, D; Zablocki, K; Popowska, E; Pronicka, E; Duszynski, J
      Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    30. Lee, N; Daly, MJ; Delmonte, T; Lander, ES; Xu, FH; Hudson, TJ; Mitchell, GA; Morin, CC; Robinson, BH; Rioux, JD
      A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16

      AMERICAN JOURNAL OF HUMAN GENETICS
    31. Carrozzo, R; Murray, J; Capuano, O; Tessa, A; Chichierchia, G; Neglia, MR; Capaldi, RA; Santorelli, FM
      A novel mtDNA mutation in the ATPase6 gene studied by E-Coli modeling

      NEUROLOGICAL SCIENCES
    32. 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
    33. Rotig, A; Valnot, I; Mugnier, C; Rustin, P; Munnich, A
      Screening human EST database for identification of candidate genes in respiratory chain deficiency

      MOLECULAR GENETICS AND METABOLISM
    34. Rubio-Gozalbo, ME; Dijkman, KP; van den Heuvel, LP; Sengers, RCA; Wendel, U; Smeitink, JAM
      Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations

      HUMAN MUTATION
    35. Lissens, W; De Meirleir, L; Seneca, S; Liebaers, I; Brown, GK; Brown, RM; Ito, M; Naito, E; Kuroda, Y; Kerr, DS; Wexler, ID; Patel, MS; Robinson, BH; Seyda, A
      Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

      HUMAN MUTATION
    36. 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
    37. DiMauro, S
      Introduction: Mitochrondrial encephalomyopathies

      BRAIN PATHOLOGY
    38. Tanji, K; Bonilla, E
      Neuropathologic aspects of cytochrome C oxidase deficiency

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

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

      BRAIN PATHOLOGY
    41. Valnot, I; von Kleist-Retzow, JC; Barrientos, A; Gorbatyuk, M; Taanman, JW; Mehaye, B; Rustin, P; Tzagoloff, A; Munnich, A; Rotig, A
      A mutation in the human heme A : farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency

      HUMAN MOLECULAR GENETICS
    42. Santoro, L; Carrozzo, R; Malandrini, A; Piemonte, F; Patrono, C; Villanova, M; Tessa, A; Palmeri, S; Bertini, E; Santorelli, FM
      A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency

      NEUROMUSCULAR DISORDERS
    43. Vilarinho, L; Leao, E; Barbot, C; Santos, M; Rocha, H; Santorelli, FM
      Clinical and molecular studies in three Portuguese mtDNA T8993G families

      PEDIATRIC NEUROLOGY
    44. Shoffner, JM
      Mitochondrial myopathy diagnosis

      NEUROLOGIC CLINICS
    45. Sue, CM; Karadimas, C; Checcarelli, N; Tanji, K; Papadopoulou, LC; Pallotti, F; Guo, FL; Shanske, S; Hirano, M; De Vivo, DC; Van Coster, R; Kaplan, P; Bonilla, E; DiMauro, S
      Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2

      ANNALS OF NEUROLOGY
    46. 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
    47. Smeitink, JAM; Sengers, RCA; Trijbels, FJM; van den Heuvel, LP
      Nuclear genes and oxidative phosphorylation disorders: a review

      EUROPEAN JOURNAL OF PEDIATRICS
    48. Van Coster, R; De Meirleir, L
      Mitochondrial cytopathies and neuromuscular disorders

      ACTA NEUROLOGICA BELGICA
    49. Rubio-Gozalbo, ME; Sengers, RCA; Trijbels, JMF; Doesburg, WH; Janssen, AJM; Verbeek, ALM; Smeitink, JAM
      A prognostic index as diagnostic strategy in children suspected of mitochondriocytopathy

      NEUROPEDIATRICS
    50. Huttemann, M; Muhlenbein, N; Schmidt, TR; Grossman, LI; Kadenbach, B
      Isolation and sequence of the human cytochrome c oxidase subunit VIIaL gene

      BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION
    51. Cain, BD
      Mutagenic analysis of the F-0 stator subunits

      JOURNAL OF BIOENERGETICS AND BIOMEMBRANES
    52. Di Donato, S
      Disorders related to mitochondrial membranes: Pathology of the respiratorychain and neurodegeneration

      JOURNAL OF INHERITED METABOLIC DISEASE
    53. Robinson, BH
      Human cytochrome oxidase deficiency

      PEDIATRIC RESEARCH
    54. de Lonlay-Debeney, P; von Kleist-Retzow, JC; Hertz-Pannier, L; Peudenier, S; Cormier-Daire, V; Berquin, P; Chretien, D; Rotig, A; Saudubray, JM; Baraton, J; Brunelle, F; Rustin, P; Van der Knaap, M; Munnich, A
      Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency

      JOURNAL OF PEDIATRICS
    55. Chowdhury, SKR; Drahota, Z; Floryk, D; Calda, P; Houstek, J
      Activities of mitochondrial oxidative phosphorylation enzymes in cultured amniocytes

      CLINICA CHIMICA ACTA
    56. Houstek, J
      Genetic aspects of mitochondrial encephalomyoptahies

      BIOLOGIA
    57. Budde, SMS; van den Heuvel, LPWJ; Janssen, AJ; Smeets, RJP; Buskens, CAF; DeMeirleir, L; Van Coster, R; Baethmann, M; Voit, T; Trijbels, JMF; Smeitink, JAM
      Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    58. 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
    59. Koga, Y; Akita, Y; Takane, N; Sato, Y; Kato, H
      Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene

      ARCHIVES OF DISEASE IN CHILDHOOD
    60. Valnot, I; Osmond, S; Gigarel, N; Mehaye, B; Amiel, J; Cormier-Daire, V; Munnich, A; Bonnefont, JP; Rustin, P; Rotig, A
      Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy

      AMERICAN JOURNAL OF HUMAN GENETICS
    61. Koga, Y; Koga, A; Iwanaga, R; Akita, Y; Tubone, J; Matsuishi, T; Takane, N; Sato, Y; Kato, H
      Single-fiber analysis of mitochondrial A3243G mutation in four different phenotypes

      ACTA NEUROPATHOLOGICA
    62. Hartzog, PE; Gardner, JL; Cain, BD
      Modeling the Leigh syndrome nt8993 T -> C mutation in Escherichia coli F1F0 ATP synthase

      INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
    63. Kumagai, R; Ichikawa, K; Yasui, T; Kageyama, Y; Miyabayashi, S
      Adult Leigh syndrome: treatment with intravenous soybean oil for acute central respiratory failure

      EUROPEAN JOURNAL OF NEUROLOGY
    64. Goldstein, JD; Shanske, S; Bruno, C; Perszyk, AA
      Maternally inherited mitochondrial cardiomyopathy associated with a C-to-Ttransition at nucleotide 3303 of mitochondrial DNA in the tRNA(Leu(UUR)) gene

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    65. 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
    66. Tiranti, V; Galimberti, C; Nijtmans, L; Bovolenta, S; Perini, MP; Zeviani, M
      Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions

      HUMAN MOLECULAR GENETICS
    67. 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
    68. von Kleist-Retzow, JC; Vial, E; Chantrel-Groussard, K; Rotig, A; Munnich, A; Rustin, P; Taanman, JW
      Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    69. Frucht, S; Fahn, S; Shannon, KM; Waters, CH
      A 32-year-old man with progressive spasticity and Parkinsonism

      MOVEMENT DISORDERS
    70. Zeviani, M; Corona, P; Nijtmans, L; Tiranti, V
      Nuclear gene defects in mitochondrial disorders

      ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES
    71. Takahashi, S; Oki, J; Miyamoto, A; Okuno, A
      Proton magnetic resonance spectroscopy to study the metabolic changes in the brain of a patient with Leigh syndrome

      BRAIN & DEVELOPMENT
    72. De Vivo, DC
      Solving the COX puzzle

      ANNALS OF NEUROLOGY
    73. DiMauro, S
      Mitochondrial encephalomyopathies: Back to mendelian genetics

      ANNALS OF NEUROLOGY
    74. Shoffner, JM
      Oxidative phosphorylation disease diagnosis

      SEMINARS IN NEUROLOGY
    75. Rouillac, C; Aral, B; Fouque, F; Marchant, D; Saudubray, JM; Dumez, Y; Lindsay, G; Abitbol, M; Dufier, JL; Marsac, C; Benelli, C
      First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X,an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex

      PRENATAL DIAGNOSIS
    76. White, SL; Shanske, S; Biros, I; Warwick, L; Dahl, HM; Thorburn, DR; Di Mauro, S
      Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA

      PRENATAL DIAGNOSIS
    77. Sue, CM; Hirano, M; DiMauro, S; De Vivo, DC
      Neonatal presentations of mitochondrial metabolic disorders

      SEMINARS IN PERINATOLOGY
    78. White, SL; Shanske, S; McGill, JJ; Mountain, H; Geraghty, MT; DiMauro, S; Dahl, HHM; Thorburn, DR
      Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation

      JOURNAL OF INHERITED METABOLIC DISEASE
    79. Vilarinho, L; Santorelli, FM; Coelho, I; Rodrigues, L; Maia, M; Barata, I; Cabral, P; Dionisio, A; Costa, A; Guimaraes, A; DiMauro, S
      The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    80. Wakshlag, JJ; de Lahunta, A; Robinson, T; Cooper, BJ; Brenner, O; O'Toole, TD; Olson, J; Beckman, KB; Glass, E; Reynolds, AJ
      Subacute necrotising encephalopathy in an Alaskan husky

      JOURNAL OF SMALL ANIMAL PRACTICE
    81. Bruno, C; Kirby, DM; Koga, Y; Garavaglia, B; Duran, G; Santorelli, FM; Shield, LK; Xia, WL; Shanske, S; Goldstein, JD; Iwanaga, R; Akita, Y; Carrara, F; Davis, A; Zeviani, M; Thorburn, DR; DiMauro, S
      The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy

      JOURNAL OF PEDIATRICS
    82. Procaccio, V; Mousson, B; Beugnot, R; Duborjal, H; Feillet, F; Putet, G; Pignot-Paintrand, I; Lombes, A; De Coo, R; Smeets, H; Lunardi, J; Issartel, JP
      Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts

      JOURNAL OF CLINICAL INVESTIGATION
    83. Manfred, G; Gupta, N; Vazquez-Memije, ME; Sadlock, JE; Spinazzola, A; De Vivo, DC; Schon, EA
      Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene

      JOURNAL OF BIOLOGICAL CHEMISTRY
    84. Poyau, A; Buchet, K; Godinot, C
      Sequence conservation from human to prokaryotes of Surf1, a protein involved in cytochrome c oxidase assembly, deficient in Leigh syndrome

      FEBS LETTERS
    85. Ogilvie, I; Capaldi, RA
      Mutations of the mitochondrially encoded ATPase 6 gene modeled in the ATP synthase of Escherichia coli

      FEBS LETTERS
    86. Coenen, MJH; van den Heuvel, LP; Nijtmans, LGJ; Morava, E; Marquardt, I; Girschick, HJ; Trijbels, FJM; Grivell, LA; Smeitink, JAM
      SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    87. Bruno, C; Martinuzzi, A; Tang, YY; Andreu, AL; Pallotti, F; Bonilla, E; Shanske, S; Fu, J; Sue, CM; Angelini, C; DiMauro, S; Manfredi, G
      A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV

      AMERICAN JOURNAL OF HUMAN GENETICS
    88. White, SL; Collins, VR; Wolfe, R; Cleary, MA; Shanske, S; DiMauro, S; Dahl, HHM; Thorburn, DR
      Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993

      AMERICAN JOURNAL OF HUMAN GENETICS
    89. Smeitink, J; van den Heuvel, L
      Human mitochondrial complex I in health and disease

      AMERICAN JOURNAL OF HUMAN GENETICS
    90. Nagashima, T; Mori, M; Katayama, K; Nunomura, M; Nishihara, H; Hiraga, H; Tanaka, S; Goto, Y; Nagashima, K
      Adult Leigh syndrome with mitochondrial DNA mutation at 8993

      ACTA NEUROPATHOLOGICA
    91. SHOUBRIDGE EA
      MITOCHONDRIAL ENCEPHALOMYOPATHIES

      Current opinion in neurology
    92. MARINGARCIA J; GOLDENTHAL MJ
      MITOCHONDRIAL-DNA DEFECTS IN CARDIOMYOPATHY

      Cardiovascular pathology
    93. LEUNG TF; HUI J; YEUNG WL; GOH K
      A CHINESE GIRL WITH LEIGH-SYNDROME - EFFECT OF BOTULINUM TOXIN ON DYSTONIA

      Journal of paediatrics and child health
    94. GRABER D; ALESSANDRI JL; COMBES JC; PONSOT G
      SEVERE INFANTILE ANOREXIA WITH PROGRESSIV E NEUROLOGICAL CHANGES (8 CASES) - HIGH PREVALENCE OF THIS HEREDITARY DISORDERS ON REUNION ISLAND

      Archives de pediatrie
    95. SCHUELKE M; BAKKER M; STOLTENBURG G; SPERNER J; VONMOERS A
      EPILEPSIA PARTIALIS CONTINUA ASSOCIATED WITH A HOMOPLASMIC MITOCHONDRIAL TRNA(SER(UCN)) MUTATION

      Annals of neurology
    96. DIMAURO S; HIRANO M
      MITOCHONDRIA AND HEART-DISEASE

      Current opinion in cardiology
    97. NARITA T; YAMANO T; OHNO M; TAKANO T; ITO R; SHIMADA M
      HYPERTENSION IN LEIGH-SYNDROME - A CASE-REPORT

      Neuropediatrics
    98. MORRIS AAM; TAANMAN JW; BLAKE J; COOPER JM; LAKE BD; MALONE M; LOVE S; CLAYTON PT; LEONARD JV; SCHAPIRA AHV
      LIVER-FAILURE ASSOCIATED WITH MITOCHONDRIAL-DNA DEPLETION

      Journal of hepatology
    99. HARPEY JP; HERON D; PRUDENT M; CHARPENTIER C; RUSTIN P; PONSOT G; CORMIERDAIRE V
      DIFFUSE LEUKODYSTROPHY IN AN INFANT WITH CYTOCHROME-C-OXIDASE DEFICIENCY

      Journal of inherited metabolic disease
    100. Vazquez-Memije, ME; Shanske, S; Santorelli, FM; Kranz-Eble, P; DeVivo, DC; DiMauro, S
      Comparative biochemical studies of ATPases in cells from patients with theT8993G or T8993C mitochondrial DNA mutations

      JOURNAL OF INHERITED METABOLIC DISEASE


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 08/08/20 alle ore 14:44:18