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    1. Di Donato, S; Gellera, C; Mariotti, C
      The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias

      NEUROLOGICAL SCIENCES
    2. Palau, F
      Friedreich's ataxia and frataxin: Molecular genetics, evolution and pathogenesis (Review)

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    3. Whysner, J; Wang, CX
      Hepatocellular iron accumulation and increased cell proliferation in polychlorinated biphenyl-exposed Sprague-Dawley rats and the development of hepatocarcinogenesis

      TOXICOLOGICAL SCIENCES
    4. Chantrel-Groussard, K; Geromel, V; Puccio, H; Koenig, M; Munnich, A; Rotig, A; Rustin, P
      Disabled early recruitment of antioxidant defenses in Friedreich's ataxia

      HUMAN MOLECULAR GENETICS
    5. Tan, G; Chen, LS; Lonnerdal, B; Gellera, C; Taroni, FA; Cortopassi, GA
      Frataxin expression rescues mitochondrial dysfunctions in FRDA cells

      HUMAN MOLECULAR GENETICS
    6. Santos, MM; Ohshima, K; Pandolfo, M
      Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm

      HUMAN MOLECULAR GENETICS
    7. Bit-Avragim, N; Perrot, A; Schols, L; Hardt, C; Kreuz, FR; Zuhlke, C; Bubel, S; Laccone, F; Vogel, HP; Dietz, R; Osterziel, KJ
      The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia

      JOURNAL OF MOLECULAR MEDICINE-JMM
    8. Pandolfo, M
      Molecular basis of Friedreich ataxia

      MOVEMENT DISORDERS
    9. Lodi, R; Hart, PE; Rajagopalan, B; Taylor, DJ; Crilley, JG; Bradley, JL; Blamire, AM; Manners, D; Styles, P; Schapira, AHV; Cooper, JM
      Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia

      ANNALS OF NEUROLOGY
    10. Grabczyk, E; Kumari, D; Usdin, K
      Fragile X syndrome and Friedreich's ataxia: Two different paradigms for repeat induced transcript insufficiency

      BRAIN RESEARCH BULLETIN
    11. Bravo, C; Vargas-Suarez, M; Rodriguez-Enriquez, S; Loza-Tavera, H; Moreno-Sanchez, R
      Metabolic changes induced by cold stress in rat liver mitochondria

      JOURNAL OF BIOENERGETICS AND BIOMEMBRANES
    12. Perrin, RJ; Woods, WS; Clayton, DF; George, JM
      Exposure to long chain polyunsaturated fatty acids triggers rapid multimerization of synucleins

      JOURNAL OF BIOLOGICAL CHEMISTRY
    13. Lodi, R; Rajagopalan, B; Blamire, AM; Cooper, JM; Davies, CH; Bradley, JL; Styles, P; Schapira, AHV
      Cardiac energetics are abnormal in Friedreich ataxia patients in the absence of cardiac dysfunction and hypertrophy: An in vivo P-31 magnetic resonance spectroscopy study

      CARDIOVASCULAR RESEARCH
    14. Kahle, PJ; Neumann, M; Ozmen, L; Muller, V; Odoy, S; Okamoto, N; Jacobsen, H; Iwatsubo, T; Trojanowski, JQ; Takahashi, H; Wakabayashi, K; Bogdanovic, N; Riederer, P; Kretzschmar, HA; Haass, C
      Selective insolubility of alpha-Synuclein in human Lewy body diseases is recapitulated in a transgenic mouse model

      AMERICAN JOURNAL OF PATHOLOGY
    15. Patel, PI; Isaya, G
      Friedreich ataxia: From GAA triplet-repeat expansion to frataxin deficiency

      AMERICAN JOURNAL OF HUMAN GENETICS
    16. Raina, AK; Perry, G; Nunomura, A; Sayre, LM; Smith, MA
      Histochemical and immunocytochemical approaches to the study of oxidative stress

      CLINICAL CHEMISTRY AND LABORATORY MEDICINE
    17. 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
    18. Musco, G; Stier, G; Kolmerer, B; Adinolfi, S; Martin, S; Frenkiel, T; Gibson, T; Pastore, A
      Towards a structural understanding of Friedreich's ataxia: the solution structure of frataxin

      STRUCTURE WITH FOLDING & DESIGN
    19. Puccio, H; Koenig, M
      Recent advances in the molecular pathogenesis of Friedreich ataxia

      HUMAN MOLECULAR GENETICS
    20. Chew, A; Sirugo, G; Alsobrook, JP; Isaya, G
      Functional and genomic analysis of the human mitochondrial intermediate peptidase, a putative protein partner of frataxin

      GENOMICS
    21. Fargasova, A; Derco, J; Ondrejkovicova, I; Havranek, E
      Effect of Fe(III) complexes with heterocyclic N-donor ligand on iron accumulation and oxygen production by the alga Scenedesmus quadricauda

      JOURNAL OF TRACE AND MICROPROBE TECHNIQUES
    22. Canizares, J; Blanca, JM; Navarro, JA; Monros, E; Palau, F; Molto, MD
      dfh is a Drosophila homolog of the Friedreich's ataxia disease gene

      GENE
    23. Wilson, RB; Lynch, DR; Farmer, JM; Brooks, DG; Fischbeck, KH
      Increased serum transferrin receptor concentrations in Friedreich ataxia

      ANNALS OF NEUROLOGY
    24. Quintana, C; Lancin, M; Marhic, C; Perez, M; Martin-Benito, J; Avila, J; Carrascosa, JL
      Initial studies with high resolution TEM and electron energy loss spectroscopy studies of ferritin cores extracted from brains of patients with progressive supranuclear palsy and Alzheimer disease

      CELLULAR AND MOLECULAR BIOLOGY
    25. Nath, KA; Croatt, AJ; Haggard, JJ; Grande, JP
      Renal response to repetitive exposure to heme proteins: Chronic injury induced by an acute insult

      KIDNEY INTERNATIONAL
    26. Rottkamp, CA; Nunomura, A; Hirai, K; Sayre, LM; Perry, G; Smith, MA
      Will antioxidants fulfill their expectations for the treatment of Alzheimer disease?

      MECHANISMS OF AGEING AND DEVELOPMENT
    27. Cakmak, I
      Tansley review No. 111 - Possible roles of zinc in protecting plant cells from damage by reactive oxygen species

      NEW PHYTOLOGIST
    28. Ristow, M; Pfister, MF; Yee, AJ; Schubert, M; Michael, L; Zhang, CY; Ueki, K; Michael, MD; Lowell, BB; Kahn, CR
      Frataxin activates mitochondrial energy conversion and oxidative phosphorylation

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    29. Grimes, DA; Lang, AE; Bergeron, C
      Late adult onset chorea with typical pathology of Hallervorden-Spatz syndrome

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    30. Cavadini, P; Adamec, J; Taroni, F; Gakh, O; Isaya, G
      Two-step processing of human frataxin by mitochondrial processing peptidase - Precursor and intermediate forms are cleaved at different rates

      JOURNAL OF BIOLOGICAL CHEMISTRY
    31. van Loef, JJ
      Composition and genesis of rattlestones from Dutch soils as shown by Mossbauer spectroscopy, INAA and XRD

      GEOLOGIE EN MIJNBOUW-NETHERLANDS JOURNAL OF GEOSCIENCES
    32. Hebinck, J; Hardt, C; Schols, L; Vorgerd, M; Briedigkeit, L; Kahn, CR; Ristow, M
      Heterozygous expansion of the GAA tract of the X25/frataxin gene is associated with insulin resistance in humans

      DIABETES
    33. Bidichandani, SI; Garcia, CA; Patel, PI; Dimachkie, MM
      Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions

      ARCHIVES OF NEUROLOGY
    34. von Kleist-Retzow, JC; Chantrel-Groussard, K; Rotig, A; Munnich, R; Rustin, P
      Current diagnosis and treatment

      DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT
    35. Sayre, LM; Perry, G; Smith, MA
      Redox metals and neurodegenerative disease

      CURRENT OPINION IN CHEMICAL BIOLOGY
    36. Rotig, A; Munnich, A; Rustin, P
      Friedrich's ataxia and mitochondria: Putting together a puzzle

      ARCHIVES DE PEDIATRIE
    37. Rustin, P; von Kleist-Retzow, JC; Chantrel-Groussard, K; Sidi, D; Munnich, A; Rotig, A
      Friedreich's ataxia: a therapic hope.

      M S-MEDECINE SCIENCES
    38. Cossee, M; Durr, A; Schmitt, M; Dahl, N; Trouillas, P; Allinson, P; Kostrzewa, M; Nivelon-Chevallier, A; Gustavson, KH; Kohlschutter, A; Muller, U; Mandel, JL; Brice, A; Koenig, M; Cavalcanti, F; Tammaro, A; De Michele, G; Filla, A; Cocozza, S; Labuda, M; Montermini, L; Poirier, J; Pandolfo, M
      Friedreich's ataxia: Point mutations and clinical presentation of compoundheterozygotes

      ANNALS OF NEUROLOGY
    39. Verrijt, CEH; Kroos, MJ; Huijskes-Heins, MIE; Cleton-Soeteman, MI; van Run, PRWA; van Eijk, HG; van Dijk, JP
      Accumulation and release of iron in polarly and non-polarly cultured trophoblast cells isolated from human term placentas

      EUROPEAN JOURNAL OF OBSTETRICS GYNECOLOGY AND REPRODUCTIVE BIOLOGY
    40. Hezode, C; Cazeneuve, C; Coue, O; Roudot-Thoraval, F; Lonjon, I; Bastie, A; Duvoux, C; Pawlotsky, JM; Zafrani, ES; Amselem, S; Dhumeaux, D
      Liver iron accumulation in patients with chronic active hepatitis C: prevalence and role of hemochromatosis gene mutations and relationship with hepatic histological lesions

      JOURNAL OF HEPATOLOGY
    41. Delatycki, MB; Paris, DBBP; Gardner, RJM; Nicholson, GA; Nassif, N; Storey, E; MacMillan, JC; Collins, V; Williamson, R; Forrest, SM
      Clinical and genetic study of Friedreich ataxia in an Australian population

      AMERICAN JOURNAL OF MEDICAL GENETICS
    42. Rustin, P; von Kleist-Retzow, JC; Chantrel-Groussard, K; Sidi, D; Munnich, A; Rotig, A
      Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study

      LANCET
    43. Zhang, XK; Yi, CL; Zhang, FS
      Iron accumulation in root apoplasm of dicotyledonous and graminaceous species grown on calcareous soil

      NEW PHYTOLOGIST
    44. Burk, K; Klockgether, T; Dichgans, J
      Molecular genetics and pathogenic mechanisms of hereditary ataxia

      NERVENARZT
    45. Kaplan, J
      Friedreich's ataxia is a mitochondrial disorder

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    46. Lodi, R; Cooper, JM; Bradley, JL; Manners, D; Styles, P; Taylor, DJ; Schapira, AHV
      Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    47. Gorman, N; Walton, HS; Bement, WJ; Honsinger, CP; Szakacs, JG; Sinclair, JF; Sinclair, PR
      Role of small differences in CYP1A2 in the development of uroporphyria produced by iron and 5-aminolevulinate in C57BL/6 and SWR strains of mice

      BIOCHEMICAL PHARMACOLOGY
    48. Knight, SAB; Kim, R; Pain, D; Dancis, A
      Insights from model systems - The yeast connection to Friedreich ataxia

      AMERICAN JOURNAL OF HUMAN GENETICS
    49. Klopstock, T; Chahrokh-Zadeh, S; Holinski-Feder, E; Meindl, A; Gasser, T; Pongratz, D; Muller-Felber, W
      Markedly different course of Friedreich's ataxia in sib pairs with similarGAA repeat expansions in the frataxin gene

      ACTA NEUROPATHOLOGICA
    50. WILLIAMS GM; IATROPOULOS MJ; WANG CX; JEFFREY AM; THOMPSON S; PITTMAN B; PALASCH M; GEBHARDT R
      NONLINEARITIES IN 2-ACETYLAMINOFLUORENE EXPOSURE RESPONSES FOR GENOTOXIC AND EPIGENETIC EFFECTS LEADING TO INITIATION OF CARCINOGENESIS IN RAT-LIVER

      TOXICOLOGICAL SCIENCES
    51. CHEN LG; BOADLE RA; HARRIS DCH
      TOXICITY OF HOLOTRANSFERRIN BUT NOT ALBUMIN IN PROXIMAL TUBULE CELLS IN PRIMARY CULTURE

      Journal of the American Society of Nephrology
    52. KOUTNIKOVA H; CAMPUZANO V; KOENIG M
      MATURATION OF WILD-TYPE AND MUTATED FRATAXIN BY THE MITOCHONDRIAL PROCESSING PEPTIDASE

      Human molecular genetics (Print)
    53. QIAN ZM; WANG Q
      EXPRESSION OF IRON TRANSPORT PROTEINS AND EXCESSIVE IRON ACCUMULATIONIN THE BRAIN IN NEURODEGENERATIVE DISORDERS

      Brain research reviews
    54. Lonnqvist, T; Paetau, A; Nikali, K; von Boguslawski, K; Pihko, H
      Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    55. DELATYCKI MB; PARIS D; GARDNER RJM; FORSHAW K; NICHOLSON GA; NASSIF N; WILLIAMSON R; FORREST SM
      SPERM DNA ANALYSIS IN A FRIEDREICH ATAXIA PREMUTATION CARRIER SUGGESTS BOTH MEIOTIC AND MITOTIC EXPANSION IN THE FRDA GENE

      Journal of Medical Genetics
    56. KALTWASSER JP; WERNER E; SCHALK K; HANSEN C; GOTTSCHALK R; SEIDL C
      CLINICAL-TRIAL ON THE EFFECT OF REGULAR TEA DRINKING ON IRON ACCUMULATION IN GENETIC HEMOCHROMATOSIS

      Gut
    57. Csere, P; Lill, R; Kispal, G
      Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p

      FEBS LETTERS
    58. LAN J; JIANG DH
      EXCESSIVE IRON ACCUMULATION IN THE BRAIN - A POSSIBLE POTENTIAL RISK OF NEURODEGENERATION IN PARKINSONS-DISEASE

      Journal of neural transmission
    59. CHEN LG; WANG YP; TAY YC; HARRIS DCH
      PROTEINURIA AND TUBULOINTERSTITIAL INJURY

      Kidney international
    60. ASLAM S; STANDEN GR
      RAPID DIAGNOSIS OF ASYMPTOMATIC HEREDITARY HEMOCHROMATOSIS BY DETECTION OF THE CYS282TYR MUTATION IN THE HLA-H GENE

      Postgraduate medical journal
    61. KIMURA M; YOKOI K
      IRON ACCUMULATION IN TISSUES OF MAGNESIUM-DEFICIENT RATS WITH DIETARYIRON OVERLOAD - EXPERIMENTAL HEMOCHROMATOSIS MODEL

      Biological trace element research
    62. BUNTON TE
      EXCLUSION OF COPPER FROM ALTERED HEPATOCYTES IN WHITE PERCH (MORONE AMERICANA) WITH HEPATIC COPPER STORAGE

      Journal of wildlife diseases
    63. DIERLAMM J; MICHAUX L; CRIEL A; WLODARSKA I; ZELLER W; LOUWAGIE A; MICHAUX JL; MECUCCI C; VANDENBERGHE H
      ISODICENTRIC (X)(Q13) IN HEMATOLOGICAL MALIGNANCIES - PRESENTATION OF5 NEW CASES, APPLICATION OF FLUORESCENCE IN-SITU HYBRIDIZATION (FISH)AND REVIEW OF THE LITERATURE

      British Journal of Haematology
    64. OLANOW CW
      A RATIONALE FOR MONOAMINE-OXIDASE INHIBITION AS NEUROPROTECTIVE THERAPY FOR PARKINSONS-DISEASE

      Movement disorders
    65. UMEMURA T; TOKUMO K; SIRMA H; GEBHARDT R; POIRIER MC; WILLIAMS GM
      DOSE-RESPONSE EFFECTS OF 2-ACETYLAMINOFLUORENE ON DNA-DAMAGE, CYTOTOXICITY, CELL-PROLIFERATION AND NEOPLASTIC CONVERSION IN RAT-LIVER

      Cancer letters
    66. WILLIAMS GM; GEBHARDT R; SIRMA H; STENBACK F
      NONLINEARITY OF NEOPLASTIC CONVERSION INDUCED IN RAT-LIVER BY LOW EXPOSURES TO DIETHYLNITROSAMINE

      Carcinogenesis


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Documento generato il 26/05/20 alle ore 06:03:27