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Items: 1 to 20 of 119

1.

Gerstmann-Straüssler-Scheinker disease: novel PRNP mutation and VGKC-complex antibodies.

Jones M, Odunsi S, du Plessis D, Vincent A, Bishop M, Head MW, Ironside JW, Gow D.

Neurology. 2014 Jun 10;82(23):2107-11. doi: 10.1212/WNL.0000000000000500. Epub 2014 May 9.

2.

Gerstmann-Sträussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients.

Young K, Jones CK, Piccardo P, Lazzarini A, Golbe LI, Zimmerman TR Jr, Dickson DW, McLachlan DC, St George-Hyslop P, Lennox A, et al.

Neurology. 1995 Jun;45(6):1127-34.

PMID:
7783876
3.

A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease.

Panegyres PK, Toufexis K, Kakulas BA, Cernevakova L, Brown P, Ghetti B, Piccardo P, Dlouhy SR.

Arch Neurol. 2001 Nov;58(11):1899-902.

PMID:
11709001
4.

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
5.

Gerstmann-Sträussler-Scheinker disease.

Liberski PP.

Adv Exp Med Biol. 2012;724:128-37. doi: 10.1007/978-1-4614-0653-2_10. Review.

PMID:
22411239
6.

A novel PRNP Y218N mutation in Gerstmann-Sträussler-Scheinker disease with neurofibrillary degeneration.

Alzualde A, Indakoetxea B, Ferrer I, Moreno F, Barandiaran M, Gorostidi A, Estanga A, Ruiz I, Calero M, van Leeuwen FW, Atares B, Juste R, Rodriguez-Martínez AB, López de Munain A.

J Neuropathol Exp Neurol. 2010 Aug;69(8):789-800. doi: 10.1097/NEN.0b013e3181e85737.

7.

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, Noher de Halac I, 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
8.

Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129.

Young K, Clark HB, Piccardo P, Dlouhy SR, Ghetti B.

Brain Res Mol Brain Res. 1997 Feb;44(1):147-50.

PMID:
9030710
9.

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
10.

Clinical relevance of voltage-gated potassium channel–complex antibodies in children.

Hacohen Y, Singh R, Rossi M, Lang B, Hemingway C, Lim M, Vincent A.

Neurology. 2015 Sep 15;85(11):967-75.

PMID:
26296514
11.

Linkage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein gene.

Dlouhy SR, Hsiao K, Farlow MR, Foroud T, Conneally PM, Johnson P, Prusiner SB, Hodes ME, Ghetti B.

Nat Genet. 1992 Apr;1(1):64-7.

PMID:
1363809
12.

Neuropathological features of a case with schizophrenia and prion protein gene P102L mutation before onset of Gerstmann-Sträussler-Scheinker disease.

Sasaki K, Doh-ura K, Furuta A, Nakashima S, Morisada Y, Tateishi J, Iwaki T.

Acta Neuropathol. 2003 Jul;106(1):92-6. Epub 2003 Apr 8.

PMID:
12682740
13.

[Mutation of codon 117 of the prion gene in Gerstmann-Sträussler-Scheinker disease].

Tranchant C, Doh-Ura K, Steinmetz G, Chevalier Y, Kitamoto T, Tateishi J, Warter JM.

Rev Neurol (Paris). 1991;147(4):274-8. Review. French.

PMID:
2063076
14.

Anesthetic management of a patient with Gerstmann-Sträussler-Scheinker syndrome (mutation of prion protein).

Nakamura M, Ogata M, Matsuo Y, Sata T.

Anesth Analg. 2006 Apr;102(4):1285-6.

PMID:
16551938
15.

A second case of Gerstmann-Sträussler-Scheinker disease linked to the G131V mutation in the prion protein gene in a Dutch patient.

Jansen C, Parchi P, Capellari S, Strammiello R, Dopper EG, van Swieten JC, Kamphorst W, Rozemuller AJ.

J Neuropathol Exp Neurol. 2011 Aug;70(8):698-702. doi: 10.1097/NEN.0b013e3182270c54.

16.

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
17.

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.

18.

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
19.

Outcome of limbic encephalitis with VGKC-complex antibodies: relation to antigenic specificity.

Malter MP, Frisch C, Schoene-Bake JC, Helmstaedter C, Wandinger KP, Stoecker W, Urbach H, Surges R, Elger CE, Vincent AV, Bien CG.

J Neurol. 2014 Sep;261(9):1695-705. doi: 10.1007/s00415-014-7408-6. Epub 2014 Jun 17.

PMID:
24935858
20.

Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome.

Kretzschmar HA, Kufer P, Riethmüller G, DeArmond S, Prusiner SB, Schiffer D.

Neurology. 1992 Apr;42(4):809-10.

PMID:
1348851
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