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Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Auer-Grumbach M, Weger M, Fink-Puches R, Papić L, Fröhlich E, Auer-Grumbach P, El Shabrawi-Caelen L, Schabhüttl M, Windpassinger C, Senderek J, Budka H, Trajanoski S, Janecke AR, Haas A, Metze D, Pieber TR, Guelly C. Auer-Grumbach M, et al. Among authors: budka h. Brain. 2011 Jun;134(Pt 6):1839-52. doi: 10.1093/brain/awr076. Epub 2011 May 15. Brain. 2011. PMID: 21576112 Free PMC article.
Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a cathepsin D variant p.A58V.
Ehling R, Nosková L, Stránecký V, Hartmannová H, Přistoupilová A, Hodaňová K, Benke T, Kovacs GG, Ströbel T, Niedermüller U, Wagner M, Nachbauer W, Janecke A, Budka H, Boesch S, Kmoch S. Ehling R, et al. Among authors: budka h. J Neurol Sci. 2013 Mar 15;326(1-2):75-82. doi: 10.1016/j.jns.2013.01.017. Epub 2013 Feb 13. J Neurol Sci. 2013. PMID: 23415546
Fatal familial insomnia: a new Austrian family.
Almer G, Hainfellner JA, Brücke T, Jellinger K, Kleinert R, Bayer G, Windl O, Kretzschmar HA, Hill A, Sidle K, Collinge J, Budka H. Almer G, et al. Among authors: budka h. Brain. 1999 Jan;122 ( Pt 1):5-16. doi: 10.1093/brain/122.1.5. Brain. 1999. PMID: 10050890
Mutations of the prion protein gene phenotypic spectrum.
Kovács GG, Trabattoni G, Hainfellner JA, Ironside JW, Knight RS, Budka H. Kovács GG, et al. Among authors: budka h. J Neurol. 2002 Nov;249(11):1567-82. doi: 10.1007/s00415-002-0896-9. J Neurol. 2002. PMID: 12420099
Multisite Assessment of Aging-Related Tau Astrogliopathy (ARTAG).
Kovacs GG, Xie SX, Lee EB, Robinson JL, Caswell C, Irwin DJ, Toledo JB, Johnson VE, Smith DH, Alafuzoff I, Attems J, Bencze J, Bieniek KF, Bigio EH, Bodi I, Budka H, Dickson DW, Dugger BN, Duyckaerts C, Ferrer I, Forrest SL, Gelpi E, Gentleman SM, Giaccone G, Grinberg LT, Halliday GM, Hatanpaa KJ, Hof PR, Hofer M, Hortobágyi T, Ironside JW, King A, Kofler J, Kövari E, Kril JJ, Love S, Mackenzie IR, Mao Q, Matej R, McLean C, Munoz DG, Murray ME, Neltner J, Nelson PT, Ritchie D, Rodriguez RD, Rohan Z, Rozemuller A, Sakai K, Schultz C, Seilhean D, Smith V, Tacik P, Takahashi H, Takao M, Rudolf Thal D, Weis S, Wharton SB, White CL 3rd, Woulfe JM, Yamada M, Trojanowski JQ. Kovacs GG, et al. Among authors: budka h. J Neuropathol Exp Neurol. 2017 Jul 1;76(7):605-619. doi: 10.1093/jnen/nlx041. J Neuropathol Exp Neurol. 2017. PMID: 28591867 Free PMC article.
416 results