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Journal Abstract Search

168 related items for PubMed ID: 9731209

  • 1. Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin gene.
    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.
    Biochem Biophys Res Commun; 1998 Aug 28; 249(3):754-8. PubMed ID: 9731209
    [Abstract] [Full Text] [Related]

  • 2. Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the Parkin gene in affected individuals.
    Hattori N, Kitada T, Matsumine H, Asakawa S, Yamamura Y, Yoshino H, Kobayashi T, Yokochi M, Wang M, Yoritaka A, Kondo T, Kuzuhara S, Nakamura S, Shimizu N, Mizuno Y.
    Ann Neurol; 1998 Dec 28; 44(6):935-41. PubMed ID: 9851438
    [Abstract] [Full Text] [Related]

  • 3. A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
    Abbas N, Lücking CB, Ricard S, Dürr A, Bonifati V, De Michele G, Bouley S, Vaughan JR, Gasser T, Marconi R, Broussolle E, Brefel-Courbon C, Harhangi BS, Oostra BA, Fabrizio E, Böhme GA, Pradier L, Wood NW, Filla A, Meco G, Denefle P, Agid Y, Brice A.
    Hum Mol Genet; 1999 Apr 28; 8(4):567-74. PubMed ID: 10072423
    [Abstract] [Full Text] [Related]

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  • 5. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism.
    Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y, Shimizu N.
    Nature; 1998 Apr 09; 392(6676):605-8. PubMed ID: 9560156
    [Abstract] [Full Text] [Related]

  • 6. Immunohistochemical and subcellular localization of Parkin protein: absence of protein in autosomal recessive juvenile parkinsonism patients.
    Shimura H, Hattori N, Kubo S, Yoshikawa M, Kitada T, Matsumine H, Asakawa S, Minoshima S, Yamamura Y, Shimizu N, Mizuno Y.
    Ann Neurol; 1999 May 09; 45(5):668-72. PubMed ID: 10319893
    [Abstract] [Full Text] [Related]

  • 7. Differential expression of the parkin gene in the human brain and peripheral leukocytes.
    Sunada Y, Saito F, Matsumura K, Shimizu T.
    Neurosci Lett; 1998 Oct 02; 254(3):180-2. PubMed ID: 10214987
    [Abstract] [Full Text] [Related]

  • 8. PARKIN as a pathogenic gene for autosomal recessive juvenile parkinsonism.
    Shimizu N, Asakawa S, Minoshima S, Kitada T, Hattori N, Matsumine H, Yokochi M, Yamamura Y, Mizuno Y.
    J Neural Transm Suppl; 2000 Oct 02; (58):19-30. PubMed ID: 11128608
    [Abstract] [Full Text] [Related]

  • 9. Homozygous deletion mutation of the parkin gene in patients with atypical parkinsonism.
    Kuroda Y, Mitsui T, Akaike M, Azuma H, Matsumoto T.
    J Neurol Neurosurg Psychiatry; 2001 Aug 02; 71(2):231-4. PubMed ID: 11459900
    [Abstract] [Full Text] [Related]

  • 10. A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion.
    Dogu O, Johnson J, Hernandez D, Hanson M, Hardy J, Apaydin H, Özekmekçi S, Sevim S, Gwinn-Hardy K, Singleton A.
    Mov Disord; 2004 Jul 02; 19(7):812-816. PubMed ID: 15254940
    [Abstract] [Full Text] [Related]

  • 11. Parkin gene causing benign autosomal recessive juvenile parkinsonism.
    Nisipeanu P, Inzelberg R, Abo Mouch S, Carasso RL, Blumen SC, Zhang J, Matsumine H, Hattori N, Mizuno Y.
    Neurology; 2001 Jun 12; 56(11):1573-5. PubMed ID: 11402119
    [Abstract] [Full Text] [Related]

  • 12. [Etiology and pathogenesis of Parkinson's disease: from mitochondrial dysfunctions to familial Parkinson's disease].
    Hattori N.
    Rinsho Shinkeigaku; 2004 Jun 12; 44(4-5):241-62. PubMed ID: 15287506
    [Abstract] [Full Text] [Related]

  • 13. A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism.
    Muñoz E, Pastor P, Martí MJ, Oliva R, Tolosa E.
    Neurosci Lett; 2000 Jul 28; 289(1):66-8. PubMed ID: 10899410
    [Abstract] [Full Text] [Related]

  • 14. Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease.
    Clarimon J, Johnson J, Dogu O, Horta W, Khan N, Lees AJ, Hardy J, Singleton A.
    Am J Med Genet B Neuropsychiatr Genet; 2005 Feb 05; 133B(1):120-3. PubMed ID: 15635662
    [Abstract] [Full Text] [Related]

  • 15. Parkin is linked to the ubiquitin pathway.
    Tanaka K, Suzuki T, Chiba T, Shimura H, Hattori N, Mizuno Y.
    J Mol Med (Berl); 2001 Sep 05; 79(9):482-94. PubMed ID: 11692161
    [Abstract] [Full Text] [Related]

  • 16. Autosomal recessive parkinsonism linked to parkin gene in a Tunisian family. Clinical, genetic and pathological study.
    Gouider-Khouja N, Larnaout A, Amouri R, Sfar S, Belal S, Ben Hamida C, Ben Hamida M, Hattori N, Mizuno Y, Hentati F.
    Parkinsonism Relat Disord; 2003 Jun 05; 9(5):247-51. PubMed ID: 12781588
    [Abstract] [Full Text] [Related]

  • 17. [Two cases of sporadic juvenile Parkinson's disease caused by homozygous deletion of Parkin gene].
    Ujike H, Yamamoto M, Yamaguchi K, Kanzaki A, Takagi M, Kuroda S.
    No To Shinkei; 1999 Dec 05; 51(12):1061-4. PubMed ID: 10654303
    [Abstract] [Full Text] [Related]

  • 18. A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism.
    Chen H, Huang X, Yuan L, Xia H, Xu H, Yang Y, Zheng W, Deng H.
    Neurosci Lett; 2016 Jun 15; 624():100-4. PubMed ID: 27177722
    [Abstract] [Full Text] [Related]

  • 19. Autosomal Recessive Juvenile Parkinsonism (AR-JP): Genetic Diagnosis.
    Matsumine H, Hattori N, Mizuno Y.
    Methods Mol Med; 2001 Jun 15; 62():13-29. PubMed ID: 21318765
    [Abstract] [Full Text] [Related]

  • 20. Positional cloning of the autosomal recessive juvenile parkinsonism (AR-JP) gene and its diversity in deletion mutations.
    Kitada T, Asakawa S, Matsumine H, Hattori N, Minoshima S, Shimizu N, Mizuno Y.
    Parkinsonism Relat Disord; 1999 Dec 15; 5(4):163-8. PubMed ID: 18591135
    [Abstract] [Full Text] [Related]

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