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La ricerca find articoli where soggetti phrase all words 'RECESSIVE JUVENILE PARKINSONISM' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 86 riferimenti
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    1. Bonifati, V; De Michele, G; Lucking, CB; Durr, A; Fabrizio, E; Ambrosio, G; Vanacore, N; De Mari, M; Marconi, R; Capus, L; Breteler, MMB; Gasser, T; Oostra, B; Wood, N; Agid, Y; Filla, A; Meco, G; Brice, A
      The parkin gene and its phenotype

      NEUROLOGICAL SCIENCES
    2. Oliveri, RL; Zappia, M; Annesi, G; Annesi, F; Spadafora, P; Pasqua, AA; Tomaino, C; Nicoletti, G; Bosco, D; Messina, D; Logroscino, G; Manobianca, G; Epifanio, A; Morgante, L; Savettieri, G; Quattrone, A
      The parkin gene is not a major susceptibility locus for typical late-onsetParkinson's disease

      NEUROLOGICAL SCIENCES
    3. McNaught, KSP; Olanow, CW; Halliwell, B; Isacson, O; Jenner, P
      Failure of the ubiquitin-proteasome system in Parkinson's disease

      NATURE REVIEWS NEUROSCIENCE
    4. Takanashi, M; Mochizuki, H; Yokomizo, K; Hattori, N; Mori, H; Yamamura, Y; Mizuno, Y
      Iron accumulation in the substantia nigra of autosomal recessive juvenile parkinsonism (ARJP)

      PARKINSONISM & RELATED DISORDERS
    5. Mellick, GD; Buchanan, DD; Hattori, N; Brookes, AJ; Mizuno, Y; Le Couteur, DG; Silburn, PA
      The parkin gene S/N167 polymorphism in Australian Parkinson's disease patients and controls

      PARKINSONISM & RELATED DISORDERS
    6. Mizuno, Y; Hattori, N; Mori, H; Suzuki, T; Tanaka, K
      Parkin and Parkinson's disease

      CURRENT OPINION IN NEUROLOGY
    7. Chung, KKK; Zhang, Y; Lim, KL; Tanaka, Y; Huang, H; Gao, J; Ross, CA; Dawson, VL; Dawson, TM
      Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1:implications for Lewy-body formation in Parkinson disease

      NATURE MEDICINE
    8. Rankin, CA; Joazeiro, CAP; Floor, E; Hunter, T
      E3 ubiquitin-protein ligase activity of Parkin is dependent on cooperativeinteraction of RING finger (TRIAD) elements

      JOURNAL OF BIOMEDICAL SCIENCE
    9. Hedrich, K; Kann, M; Lanthaler, AJ; Dalski, A; Eskelson, C; Landt, F; Schwinger, E; Vieregge, P; Lang, AE; Breakefield, XO; Ozelius, LJ; Pramstaller, PP; Klein, C
      The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism

      HUMAN MOLECULAR GENETICS
    10. Choi, P; Golts, N; Snyder, H; Chong, M; Petrucelli, L; Hardy, J; Sparkman, D; Cochran, E; Lee, JM; Wolozin, B
      Co-association of parkin and alpha-synuclein

      NEUROREPORT
    11. Tanaka, K; Suzuki, T; Chiba, T; Shimura, H; Hattori, N; Mizuno, Y
      Parkin is linked to the ubiquitin pathway

      JOURNAL OF MOLECULAR MEDICINE-JMM
    12. Giasson, BI; Lee, VMY
      Parkin and the molecular pathways of Parkinson's disease

      NEURON
    13. Horowitz, JM; Vernace, VA; Myers, J; Stachowiak, MK; Hanlon, DW; Fraley, GS; Torres, G
      Immunodetection of Parkin protein in vertebrate and invertebrate brains: acomparative study using specific antibodies

      JOURNAL OF CHEMICAL NEUROANATOMY
    14. Ujike, H; Yamamoto, M; Kanzaki, A; Okumura, K; Takaki, M; Kuroda, S
      Prevalence of homozygous deletions of the parkin gene in a cohort of patients with sporadic and familial Parkinson's disease

      MOVEMENT DISORDERS
    15. Lu, CS; Wu, JC; Tsai, CH; Chen, RS; Chou, YHW; Hattori, N; Yoshino, H; Mizuno, Y
      Clinical and genetic studies on familial parkinsonism: The first report ona parkin gene mutation in a Taiwanese family

      MOVEMENT DISORDERS
    16. Corti, O; Brice, A
      Parkin and Parkinson's: More than homonymy?

      ANNALS OF NEUROLOGY
    17. Farrer, M; Chan, P; Chen, R; Tan, L; Lincoln, S; Hernandez, D; Forno, L; Gwinn-Hardy, K; Petrucelli, L; Hussey, J; Singleton, A; Tanner, C; Hardy, J; Langston, JW
      Lewy bodies and parkinsonism in families with parkin mutations

      ANNALS OF NEUROLOGY
    18. Gasser, T
      Genetics of Parkinson's disease

      JOURNAL OF NEUROLOGY
    19. Layfield, R; Alban, A; Mayer, RJ; Lowe, J
      The ubiquitin protein catabolic disorders

      NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
    20. Alvarez, V; Guisasola, LM; Moreira, VG; Lahoz, CH; Coto, E
      Early-onset Parkinson's disease associated with a new parkin mutation in aSpanish family

      NEUROSCIENCE LETTERS
    21. Zink, M; Grimm, L; Wszolek, ZK; Gasser, T
      Autosomal-dominant Parkinson's disease linked to 2p13 is not caused by mutations in transforming growth factor alpha (TGF alpha)

      JOURNAL OF NEURAL TRANSMISSION
    22. Kitamura, Y; Sanada, H; Kakimura, J; Ishida, Y; Shimohama, S; Taniguchi, T
      Decrease of tyrosine hydroxylase-, alpha-synuclein- and parkin-expressing neurons in the substantia nigra of MPTP-treated C57BL/6N mice

      BIOGENIC AMINES
    23. Shastry, BS
      Parkinson disease: etiology, pathogenesis and future of gene therapy

      NEUROSCIENCE RESEARCH
    24. Chung, KKK; Dawson, VL; Dawson, TM
      The role of the ubiquitin-proteasomal pathway in Parkinson's disease and other neurodegenerative disorders

      TRENDS IN NEUROSCIENCES
    25. Huynh, DP; Dy, M; Nguyen, D; Kiehl, TR; Pulst, SM
      Differential expression and tissue distribution of parkin isoforms during mouse development

      DEVELOPMENTAL BRAIN RESEARCH
    26. Horowitz, JM; Myers, J; Vernace, VA; Stachowiak, MK; Torres, G
      Spatial distribution, cellular integration and stage development of Parkinprotein in Xenopus brain

      DEVELOPMENTAL BRAIN RESEARCH
    27. Imai, Y; Soda, M; Inoue, H; Hattori, N; Mizuno, Y; Takahashi, R
      An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of parkin

      CELL
    28. Rajagopalan, S; Andersen, JK
      Alpha synuclein aggregation: is it the toxic gain of function responsible for neurodegeneration in Parkinson's disease?

      MECHANISMS OF AGEING AND DEVELOPMENT
    29. Shimura, H; Schlossmacher, MC; Hattori, N; Frosch, MP; Trockenbacher, A; Schneider, R; Mizuno, Y; Kosik, KS; Selkoe, DJ
      Ubiquitination of a new form of alpha-synuclein by parkin from human brain: Implications for Parkinson's disease

      SCIENCE
    30. Lucking, CB; Bonifati, V; Periquet, M; Vanacore, N; Brice, A; Meco, G
      Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations

      NEUROLOGY
    31. Oliveri, RL; Zappia, M; Annesi, G; Bosco, D; Annesi, F; Spadafora, P; Pasqua, AA; Tomaino, C; Nicoletti, G; Pirritano, D; Labate, A; Gambardella, A; Logroscino, G; Manobianca, G; Epifanio, A; Morgante, L; Savettieri, G; Quattrone, A
      The parkin gene is not involved in late-onset Parkinson's disease

      NEUROLOGY
    32. Terreni, L; Calabrese, E; Calella, AM; Forloni, G; Mariani, C
      New mutation (RA2P) of the parkin gene in the ubiquitinlike domain associated with parkinsonism

      NEUROLOGY
    33. van de Warrenburg, BPC; Lammens, M; Lucking, CB; Denefle, P; Wesseling, P; Booij, J; Praamstra, P; Quinn, N; Brice, A; Horstink, MWIM
      Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations

      NEUROLOGY
    34. Kuroda, Y; Mitsui, T; Akaike, M; Azuma, H; Matsumoto, T
      Homozygous deletion mutation of the parkin gene in patients with atypical parkinsonism

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    35. West, A; Farrer, M; Petrucelli, L; Cookson, M; Lockhart, P; Hardy, J
      Identification and characterization of the human parkin gene promoter

      JOURNAL OF NEUROCHEMISTRY
    36. Kubo, S; Kitami, T; Noda, S; Shimura, H; Uchiyama, Y; Asakawa, S; Minoshima, S; Shimizu, N; Mizuno, Y; Hattori, N
      Parkin is associated with cellular vesicles

      JOURNAL OF NEUROCHEMISTRY
    37. Wang, M; Suzuki, T; Kitada, T; Asakawa, S; Minoshima, S; Shimizu, N; Tanaka, K; Mizuno, Y; Hattori, N
      Developmental changes in the expression of parkin and UbcR7, a parkin-interacting and ubiquitin-conjugating enzyme, in rat brain

      JOURNAL OF NEUROCHEMISTRY
    38. Zarate-Lagunes, M; Gu, WJ; Blanchard, V; Francois, C; Muriel, MP; Mouatt-Prigent, A; Bonici, B; Parent, A; Hartmann, A; Yelnik, J; Boehme, GA; Pradier, L; Moussaoui, S; Faucheux, B; Raisman-Vozari, R; Agid, Y; Brice, A; Hirsch, EC
      Parkin immunoreactivity in the brain of human and non-human primates: An immunohistochemical analysis in normal conditions and in Parkinsonian syndromes

      JOURNAL OF COMPARATIVE NEUROLOGY
    39. Asakawa, S; Tsunematsu, K; Takayanagi, A; Sasaki, T; Shimizu, A; Shintani, A; Kawasaki, K; Mungall, AJ; Beck, S; Minoshima, S; Shimizu, N
      The genomic structure and promoter region of the human Parkin gene

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    40. Jeon, BS; Kim, JM; Lee, DS; Hattori, N; Mizuno, Y
      An apparently sporadic case with parkin gene mutation in a Korean woman

      ARCHIVES OF NEUROLOGY
    41. Vaughan, JR; Davis, MB; Wood, NW
      Genetics of Parkinsonism: a review

      ANNALS OF HUMAN GENETICS
    42. Periquet, M; Lucking, CB; Vaughan, JR; Bonifati, V; Durr, A; De Michele, G; Horstink, MW; Farrer, M; Illarioshkin, SN; Pollak, P; Borg, M; Brefel-Courbon, C; Denefle, P; Meco, G; Gasser, T; Breteler, MMB; Wood, NW; Agid, Y; Brice, A
      Origin of the mutations in the parkin gene in europe: Exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects

      AMERICAN JOURNAL OF HUMAN GENETICS
    43. Kobayashi, T; Wang, M; Hattori, N; Matsumine, H; Kondo, T; Mizuno, Y
      Exonic deletion mutations of the Parkin gene among sporadic patients with Parkinson's disease

      PARKINSONISM & RELATED DISORDERS
    44. Zhang, Y; Dawson, VL; Dawson, TM
      Oxidative stress and genetics in the pathogenesis of Parkinson's disease

      NEUROBIOLOGY OF DISEASE
    45. Choi, P; Ostrerova-Golts, N; Sparkman, D; Cochran, E; Lee, JM; Wolozin, B
      Parkin is metabolized by the ubiquitin/proteosome system

      NEUROREPORT
    46. de Silva, HA; Khan, NL; Wood, NW
      The genetics of Parkinson's disease

      CURRENT OPINION IN GENETICS & DEVELOPMENT
    47. Stichel, CC; Augustin, M; Kuhn, K; Zhu, XR; Engels, P; Ullmer, C; Lubbert, H
      Parkin expression in the adult mouse brain

      EUROPEAN JOURNAL OF NEUROSCIENCE
    48. D'Agata, V; Grimaldi, M; Pascale, A; Cavallaro, S
      Regional and cellular expression of the parkin gene in the rat cerebral cortex

      EUROPEAN JOURNAL OF NEUROSCIENCE
    49. Kitada, T; Asakawa, S; Minoshima, S; Mizuno, Y; Shimizu, N
      Molecular cloning, gene expression, and identification of a splicing variant of the mouse parkin gene

      MAMMALIAN GENOME
    50. Farrer, M; Destee, T; Becquet, E; Wavrant-De Vrieze, F; Mouroux, V; Richard, F; Defebvre, L; Lincoln, S; Hardy, J; Amouyel, S; Chartier-Harlin, MC
      Linkage exclusion in French families with probable Parkinson's disease

      MOVEMENT DISORDERS
    51. Tabamo, REJ; Fernandez, HH; Friedman, JH; Simon, DK
      Young-onset Parkinson's disease: A clinical pathologic description of two siblings

      MOVEMENT DISORDERS
    52. Durr, A; Lucking, C; Brice, A
      Parkin gene mutations and Parkinson's disease

      M S-MEDECINE SCIENCES
    53. Segawa, M
      Hereditary progressive dystonia with marked diurnal fluctuation

      BRAIN & DEVELOPMENT
    54. Saito, M; Maruyama, M; Ikeuchi, K; Kondo, H; Ishikawa, A; Yuasa, T; Tsuji, S
      Autosomal recessive juvenile parkinsonism

      BRAIN & DEVELOPMENT
    55. Huynh, DP; Scoles, DR; Ho, TH; Del Bigio, MR; Pulst, SM
      Parkin is associated with actin filaments in neuronal and nonneural cells

      ANNALS OF NEUROLOGY
    56. Klein, C; Pramstaller, PP; Kis, B; Page, CC; Kann, M; Leung, J; Woodward, H; Castellan, CC; Scherer, M; Vieregge, P; Breakefield, XO; Kramer, PL; Ozelius, LJ
      Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: Expanding the phenotype

      ANNALS OF NEUROLOGY
    57. Solano, SM; Miller, DW; Augood, SJ; Young, AB; Penney, JB
      Expression of alpha-synuclein, parkin, and ubiquitin carboxy-terminal hydrolase L1 mRNA in human brain: Genes associated with familial Parkinson's disease

      ANNALS OF NEUROLOGY
    58. Riess, O; Kuhn, W; Kruger, R
      Genetic influence on the development of Parkinson's disease

      JOURNAL OF NEUROLOGY
    59. Munoz, E; Pastor, P; Marti, MJ; Oliva, R; Tolosa, E
      A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism

      NEUROSCIENCE LETTERS
    60. Kruger, R; Hardt, C; Tschentscher, F; Jackel, S; Kuhn, W; Muller, T; Werner, J; Woitalla, D; Berg, D; Kuhnl, N; Fuchs, GA; Santos, EJM; Przuntek, H; Epplen, JT; Schols, L; Riess, O
      Genetic analysis of immunomodulating factors in sporadic Parkinson's disease

      JOURNAL OF NEURAL TRANSMISSION
    61. D'Agata, V; Zhao, WQ; Cavallaro, S
      Cloning and distribution of the rat parkin mRNA

      MOLECULAR BRAIN RESEARCH
    62. Simon, O
      Place of the paraclinical exams in the Parkinson's disease: review.

      REVUE NEUROLOGIQUE
    63. Viallet, F
      Diagnostic criteria for idiopathic Parkinson's disease.

      REVUE NEUROLOGIQUE
    64. Sveinbjornsdottir, S; Hicks, AA; Jonsson, T; Petursson, H; Guomundsson, G; Frigge, ML; Kong, A; Gulcher, JR; Stefansson, K
      Familial aggregation of Parkinson's disease in Iceland.

      NEW ENGLAND JOURNAL OF MEDICINE
    65. Lucking, CB; Durr, A; Bonifati, V; Vaughan, J; De Michele, G; Gasser, T; Harhangi, BS; Meco, G; Denefle, P; Wood, NW; Agid, Y; Brice, A
      Association between early-onset Parkinson's disease and mutations in the parkin gene

      NEW ENGLAND JOURNAL OF MEDICINE
    66. Zhang, Y; Gao, J; Chung, KKK; Huang, H; Dawson, VL; Dawson, TM
      Parkin functions as an E2-dependent ubiquitin-protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    67. Gu, WJ; Abbas, N; Lagunes, MZ; Parent, A; Pradier, L; Bohme, GA; Agid, Y; Hirsch, EC; Raisman-Vozari, R; Brice, A
      Cloning of rat parkin cDNA and distribution of parkin in rat brain

      JOURNAL OF NEUROCHEMISTRY
    68. Imai, Y; Soda, M; Takahashi, R
      Parkin suppresses unfolded protein stress-induced cell death through its E3 ubiquitin-protein ligase activity

      JOURNAL OF BIOLOGICAL CHEMISTRY
    69. Hu, CJ; Sung, SM; Liu, HC; Lee, CC; Tsai, CH; Chang, JG
      Polymorphisms of the parkin gene in sporadic Parkinson's disease among Chinese in Taiwan

      EUROPEAN NEUROLOGY
    70. Tassin, J; Durr, A; Bonnet, AM; Gil, R; Vidailhet, M; Lucking, CB; Goas, JY; Durif, F; Abada, M; Echenne, B; Motte, J; Lagueny, A; Lacomblez, L; Jedynak, P; Bartholome, B; Agid, Y; Brice, A
      Levodopa-responsive dystonia - GTP cyclohydrolase I or parkin mutations?

      BRAIN
    71. Brice, A
      Genome and neurology - The example of Parkinson's disease

      BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE
    72. Kosel, S; Hofhaus, G; Maassen, A; Vieregge, P; Graeber, MB
      Role of mitochondria in Parkinson disease

      BIOLOGICAL CHEMISTRY
    73. Wszolek, ZK; Markopoulou, K
      Molecular genetics of familial parkinsonism

      PARKINSONISM & RELATED DISORDERS
    74. Spacey, SD; Wood, NW
      The genetics of Parkinson's disease

      CURRENT OPINION IN NEUROLOGY
    75. Horowitz, JM; Myers, J; Stachowiak, MK; Torres, G
      Identification and distribution of Parkin in rat brain

      NEUROREPORT
    76. Satoh, J; Kuroda, Y
      Association of codon 167 Ser/Asn heterozygosity in the parkin gene with sporadic Parkinson's disease

      NEUROREPORT
    77. Mizuno, Y; Hattori, N; Mori, H
      Genetics of Parkinson's disease

      BIOMEDICINE & PHARMACOTHERAPY
    78. Wang, M; Hattori, N; Matsumine, H; Kobayashi, T; Yoshino, H; Morioka, A; Kitada, T; Asakawa, S; Minoshima, S; Shimizu, N; Mizuno, Y
      Polymorphism in the parkin gene in sporadic Parkinson's disease

      ANNALS OF NEUROLOGY
    79. Brassat, D; Durr, A; Agid, Y; Brice, A
      Genetic aspect of Parkinson's disease.

      REVUE DE MEDECINE INTERNE
    80. Nisipeanu, P; Inzelberg, R; Blumen, SC; Carasso, RL; Hattori, N; Matsumine, H; Mizuno, Y
      Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: Mutation of Parkin gene

      NEUROLOGY
    81. Fujishige, K; Kotera, J; Michibata, H; Yuasa, K; Takebayashi, S; Okumura, K; Omori, K
      Cloning and characterization of a novel human phosphodiesterase that hydrolyzes both cAMP and cGMP (PDE10A)

      JOURNAL OF BIOLOGICAL CHEMISTRY
    82. Klein, C; Vieregge, P; Hagenah, J; Sieberer, M; Doyle, E; Jacobs, H; Gasser, T; Breakefield, XO; Risch, NJ; Ozelius, LJ
      Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson's disease from Northern Germany

      ANNALS OF HUMAN GENETICS
    83. SAITO M; MATSUMINE H; TANAKA H; ISHIKAWA A; SHIMODAMATSUBAYASHI S; SCHAFFER AA; MIZUNO Y; TSUJI S
      REFINEMENT OF THE GENE LOCUS FOR AUTOSOMAL RECESSIVE JUVENILE PARKINSONISM (AR-JP) ON CHROMOSOME 6Q25.2-27 AND IDENTIFICATION OF MARKERS EXHIBITING LINKAGE DISEQUILIBRIUM

      JOURNAL OF HUMAN GENETICS
    84. MATSUMINE H
      A LOSS-OF-FUNCTION MECHANISM OF NIGRAL NEURON DEATH WITHOUT LEWY BODYFORMATION - AUTOSOMAL RECESSIVE JUVENILE PARKINSONISM (AR-JP)

      Journal of neurology
    85. SUNADA Y; SAITO F; MATSUMURA K; SHIMIZU T
      DIFFERENTIAL EXPRESSION OF THE PARKIN GENE IN THE HUMAN BRAIN AND PERIPHERAL LEUKOCYTES

      Neuroscience letters
    86. HATTORI N; MATSUMINE H; ASAKAWA S; KITADA T; YOSHINO H; ELIBOL B; BROOKES AJ; YAMAMURA Y; KOBAYASHI T; WANG M; YORITAKA A; MINOSHIMA S; SHIMIZU N; MIZUNO Y
      POINT MUTATIONS (THR240ARG AND ALA311STOP) IN THE PARKIN GENE

      Biochemical and biophysical research communications (Print)


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Documento generato il 26/10/20 alle ore 06:29:41