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Journal Abstract Search

281 related items for PubMed ID: 26074146

  • 21. Fatal Familial Insomnia: Clinical Aspects and Molecular Alterations.
    Llorens F, Zarranz JJ, Fischer A, Zerr I, Ferrer I.
    Curr Neurol Neurosci Rep; 2017 Apr; 17(4):30. PubMed ID: 28324299
    [Abstract] [Full Text] [Related]

  • 22. The D178N (cis-129M) "fatal familial insomnia" mutation associated with diverse clinicopathologic phenotypes in an Australian kindred.
    McLean CA, Storey E, Gardner RJ, Tannenberg AE, Cervenáková L, Brown P.
    Neurology; 1997 Aug; 49(2):552-8. PubMed ID: 9270595
    [Abstract] [Full Text] [Related]

  • 23. Prion protein gene analysis in three kindreds with fatal familial insomnia (FFI): codon 178 mutation and codon 129 polymorphism.
    Medori R, Tritschler HJ.
    Am J Hum Genet; 1993 Oct; 53(4):822-7. PubMed ID: 8105681
    [Abstract] [Full Text] [Related]

  • 24. [Fatal familial insomnia: phenotypic changes determined by polymorphism of the codon 129].
    Colombier C, Géraud G, Delisle MB, Laplanche JL, Pavy le Traon A, Alizé P, Delpla PA.
    Rev Neurol (Paris); 1997 May; 153(4):239-43. PubMed ID: 9296141
    [Abstract] [Full Text] [Related]

  • 25. Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178.
    Medori R, Montagna P, Tritschler HJ, LeBlanc A, Cortelli P, Tinuper P, Lugaresi E, Gambetti P.
    Neurology; 1992 Mar; 42(3 Pt 1):669-70. PubMed ID: 1347910
    [Abstract] [Full Text] [Related]

  • 26. Methionine oxidation accelerates the aggregation and enhances the neurotoxicity of the D178N variant of the human prion protein.
    Feng B, Wang Z, Liu T, Jin R, Wang S, Wang W, Xiao G, Zhou Z.
    Biochim Biophys Acta; 2014 Dec; 1842(12 Pt A):2345-56. PubMed ID: 25281825
    [Abstract] [Full Text] [Related]

  • 27. D178N, 129Val and N171S, 129Val genotype in a family with Creutzfeldt-Jakob disease.
    Appleby BS, Appleby KK, Hall RC, Wallin MT.
    Dement Geriatr Cogn Disord; 2010 Dec; 30(5):424-31. PubMed ID: 21071944
    [Abstract] [Full Text] [Related]

  • 28. Prion mutation D178N with highly variable disease onset and phenotype.
    Synofzik M, Bauer P, Schöls L.
    J Neurol Neurosurg Psychiatry; 2009 Mar; 80(3):345-6. PubMed ID: 19228673
    [Abstract] [Full Text] [Related]

  • 29. Rare E196K mutation in the PRNP gene of a patient exhibiting behavioral abnormalities.
    Béjot Y, Osseby GV, Caillier M, Moreau T, Laplanche JL, Giroud M.
    Clin Neurol Neurosurg; 2010 Apr; 112(3):244-7. PubMed ID: 20005032
    [Abstract] [Full Text] [Related]

  • 30. Fatal familial insomnia and familial Creutzfeldt-Jakob disease: clinical, pathological and molecular features.
    Gambetti P, Parchi P, Petersen RB, Chen SG, Lugaresi E.
    Brain Pathol; 1995 Jan; 5(1):43-51. PubMed ID: 7767490
    [Abstract] [Full Text] [Related]

  • 31. Effect of the D178N mutation and the codon 129 polymorphism on the metabolism of the prion protein.
    Petersen RB, Parchi P, Richardson SL, Urig CB, Gambetti P.
    J Biol Chem; 1996 May 24; 271(21):12661-8. PubMed ID: 8647879
    [Abstract] [Full Text] [Related]

  • 32. A subtype of sporadic prion disease mimicking fatal familial insomnia.
    Parchi P, Capellari S, Chin S, Schwarz HB, Schecter NP, Butts JD, Hudkins P, Burns DK, Powers JM, Gambetti P.
    Neurology; 1999 Jun 10; 52(9):1757-63. PubMed ID: 10371520
    [Abstract] [Full Text] [Related]

  • 33. [Fatal familial insomnia].
    Delisle MB, Uro-Coste E, Gray F, Vital C.
    Clin Exp Pathol; 1999 Jun 10; 47(3-4):176-80. PubMed ID: 10472737
    [Abstract] [Full Text] [Related]

  • 34. Identification of new molecular alterations in fatal familial insomnia.
    Llorens F, Thüne K, Schmitz M, Ansoleaga B, Frau-Méndez MA, Cramm M, Tahir W, Gotzmann N, Berjaoui S, Carmona M, Silva CJ, Fernandez-Vega I, José Zarranz J, Zerr I, Ferrer I.
    Hum Mol Genet; 2016 Jun 15; 25(12):2417-2436. PubMed ID: 27056979
    [Abstract] [Full Text] [Related]

  • 35. A case of dementia with PRNP D178Ncis-129M and no insomnia.
    Guerreiro RJ, Vaskov T, Crews C, Singleton A, Hardy J.
    Alzheimer Dis Assoc Disord; 2009 Jun 15; 23(4):415-7. PubMed ID: 19571725
    [Abstract] [Full Text] [Related]

  • 36. [Studies on heredity rule of the first genealogy regarding fatal familial insomnia in Henan province].
    Zhang J, Han J, Shi XH, Guo WS, Xia SL, Shi Q, Chen JM, Zhao WQ, Xie ZQ, Shen XJ, Li ML, Lei YJ, Shi S, Zhou W, Zhang BY, Gao C, Shan B, Guo YJ, Wang DX, Xu BL, Dong XP.
    Zhonghua Liu Xing Bing Xue Za Zhi; 2009 Jan 15; 30(1):1-5. PubMed ID: 19565837
    [Abstract] [Full Text] [Related]

  • 37. [The spectrum of prion pathology broadens: fatal familial insomnia].
    Delgado-Reyes S, Feito-Ibarz N, Ruiz-Aláez A, García de la Rocha ML, Martín-Araguz A, Moreno-Martínez JM.
    Rev Neurol; 1997 Dec 15; 25(148):2006-14. PubMed ID: 9528048
    [Abstract] [Full Text] [Related]

  • 38. Transgenic fatal familial insomnia mice indicate prion infectivity-independent mechanisms of pathogenesis and phenotypic expression of disease.
    Bouybayoune I, Mantovani S, Del Gallo F, Bertani I, Restelli E, Comerio L, Tapella L, Baracchi F, Fernández-Borges N, Mangieri M, Bisighini C, Beznoussenko GV, Paladini A, Balducci C, Micotti E, Forloni G, Castilla J, Fiordaliso F, Tagliavini F, Imeri L, Chiesa R.
    PLoS Pathog; 2015 Apr 15; 11(4):e1004796. PubMed ID: 25880443
    [Abstract] [Full Text] [Related]

  • 39. Gait disorders in fatal familial insomnia.
    Cortelli P, Fabbri M, Calandra-Buonaura G, Capellari S, Tinuper P, Parchi P, Lugaresi E.
    Mov Disord; 2014 Mar 15; 29(3):420-4. PubMed ID: 24375448
    [Abstract] [Full Text] [Related]

  • 40.
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