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Results: 1 to 20 of 106

Similar articles for PubMed (Select 23319218)

1.

Hereditary form of prion disease in Poland.

Zimowski J, Kulczycki J, Lojkowska W, Szpak G, Krysa W, Szirkowiec W, Limon-Sztencel A, Zaremba J.

Neurol Neurochir Pol. 2012 Nov-Dec;46(6):509-18.

PMID:
23319218
2.

[Genetic background of human prion diseases].

Kovács GG.

Ideggyogy Sz. 2007 Nov 30;60(11-12):438-46. Review. Hungarian.

PMID:
18198790
3.

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. doi: 10.1136/jnnp.2008.149922.

PMID:
19228673
4.

Familial mutations and the thermodynamic stability of the recombinant human prion protein.

Swietnicki W, Petersen RB, Gambetti P, Surewicz WK.

J Biol Chem. 1998 Nov 20;273(47):31048-52.

5.

Gerstmann-Sträussler-Scheinker syndrome with variable phenotype in a new kindred with PRNP-P102L mutation.

Riudavets MA, Sraka MA, Schultz M, Rojas E, Martinetto H, Begué C, de Halac IN, Poleggi A, Equestre M, Pocchiari M, Sevlever G, Taratuto AL.

Brain Pathol. 2014 Mar;24(2):142-7. doi: 10.1111/bpa.12083. Epub 2013 Sep 19.

PMID:
23944754
6.

Divergent clinical and neuropathological phenotype in a Gerstmann-Sträussler-Scheinker P102L family.

Popova SN, Tarvainen I, Capellari S, Parchi P, Hannikainen P, Pirinen E, Haapasalo H, Alafuzoff I.

Acta Neurol Scand. 2012 Nov;126(5):315-23. doi: 10.1111/j.1600-0404.2011.01628.x. Epub 2012 Jan 3.

PMID:
22211828
7.

[A trend of molecular genetics on prion diseases and prion protein].

Muramatsu Y, Shinagawa M.

Nihon Rinsho. 1993 Sep;51(9):2494-502. Review. Japanese.

PMID:
8411733
8.

The prion diseases: Creutzfeldt-Jakob, Gerstmann-Sträussler-Scheinker, and related disorders.

Mastrianni JA.

J Geriatr Psychiatry Neurol. 1998 Summer;11(2):78-97. Review.

PMID:
9877529
9.

Unusual clinical and molecular-pathological profile of gerstmann-Sträussler-Scheinker disease associated with a novel PRNP mutation (V176G).

Simpson M, Johanssen V, Boyd A, Klug G, Masters CL, Li QX, Pamphlett R, McLean C, Lewis V, Collins SJ.

JAMA Neurol. 2013 Sep 1;70(9):1180-5. doi: 10.1001/jamaneurol.2013.165.

PMID:
23857164
10.

Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease (PrP-P102L mutation).

Barbanti P, Fabbrini G, Salvatore M, Petraroli R, Cardone F, Maras B, Equestre M, Macchi G, Lenzi GL, Pocchiari M.

Neurology. 1996 Sep;47(3):734-41.

PMID:
8797472
11.

Mutations of the prion protein gene phenotypic spectrum.

Kovács GG, Trabattoni G, Hainfellner JA, Ironside JW, Knight RS, Budka H.

J Neurol. 2002 Nov;249(11):1567-82.

PMID:
12420099
12.

A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature.

Jansen C, Voet W, Head MW, Parchi P, Yull H, Verrips A, Wesseling P, Meulstee J, Baas F, van Gool WA, Ironside JW, Rozemuller AJ.

Acta Neuropathol. 2011 Jan;121(1):59-68. doi: 10.1007/s00401-010-0656-3. Epub 2010 Mar 3. Review.

13.

Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series.

Webb TE, Poulter M, Beck J, Uphill J, Adamson G, Campbell T, Linehan J, Powell C, Brandner S, Pal S, Siddique D, Wadsworth JD, Joiner S, Alner K, Petersen C, Hampson S, Rhymes C, Treacy C, Storey E, Geschwind MD, Nemeth AH, Wroe S, Collinge J, Mead S.

Brain. 2008 Oct;131(Pt 10):2632-46. doi: 10.1093/brain/awn202. Epub 2008 Aug 30.

14.

Insertions in the prion protein gene in atypical dementias.

Owen F, Poulter M, Collinge J, Leach M, Shah T, Lofthouse R, Chen YF, Crow TJ, Harding AE, Hardy J, et al.

Exp Neurol. 1991 May;112(2):240-2.

PMID:
1674696
15.

Inherited prion disease with 5-OPRI: phenotype modification by repeat length and codon 129.

Mead S, Webb TE, Campbell TA, Beck J, Linehan JM, Rutherfoord S, Joiner S, Wadsworth JD, Heckmann J, Wroe S, Doey L, King A, Collinge J.

Neurology. 2007 Aug 21;69(8):730-8.

PMID:
17709704
16.

Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome.

Kitamoto T, Ohta M, Doh-ura K, Hitoshi S, Terao Y, Tateishi J.

Biochem Biophys Res Commun. 1993 Mar 15;191(2):709-14.

PMID:
8461023
17.

A case of sporadic Creutzfeldt-Jakob disease with a Gerstmann-Sträussler-Scheinker phenotype but no alterations in the PRNP gene.

Liberski PP, Barcikowska M, Cervenakova L, Bratosiewicz J, Marczewska M, Brown P, Gajdusek DC.

Acta Neuropathol. 1998 Oct;96(4):425-30.

PMID:
9797009
18.

Codon 129 polymorphism and the E200K mutation do not affect the cellular prion protein isoform composition in the cerebrospinal fluid from patients with Creutzfeldt-Jakob disease.

Schmitz M, Schlomm M, Hasan B, Beekes M, Mitrova E, Korth C, Breil A, Carimalo J, Gawinecka J, Varges D, Zerr I.

Eur J Neurosci. 2010 Jun;31(11):2024-31. doi: 10.1111/j.1460-9568.2010.07224.x. Epub 2010 May 31.

PMID:
20529115
19.

Familial spongiform encephalopathy associated with a novel prion protein gene mutation.

Nitrini R, Rosemberg S, Passos-Bueno MR, da Silva LS, Iughetti P, Papadopoulos M, Carrilho PM, Caramelli P, Albrecht S, Zatz M, LeBlanc A.

Ann Neurol. 1997 Aug;42(2):138-46.

PMID:
9266722
20.

A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxia.

Cagnoli C, Brussino A, Sbaiz L, Di Gregorio E, Atzori C, Caroppo P, Orsi L, Migone N, Buffa C, Imperiale D, Brusco A.

Mov Disord. 2008 Jul 30;23(10):1468-71. doi: 10.1002/mds.21953.

PMID:
18566986
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