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Results: 1 to 20 of 238

1.

Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family.

De Michele G, Pocchiari M, Petraroli R, Manfredi M, Caneve G, Coppola G, Casali C, Saccà F, Piccardo P, Salvatore E, Berardelli A, Orio M, Barbieri F, Ghetti B, Filla A.

Can J Neurol Sci. 2003 Aug;30(3):233-6.

PMID:
12945948
[PubMed - indexed for MEDLINE]
2.

Transmissible spongiform encephalopathies with P102L mutation of PRNP manifesting different phenotypes: clinical, neuroimaging, and electrophysiological studies in Chinese kindred in Taiwan.

Chi NF, Lee YC, Lu YC, Wu HM, Soong BW.

J Neurol. 2010 Feb;257(2):191-7. doi: 10.1007/s00415-009-5290-4. Epub 2009 Aug 21.

PMID:
19696976
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis.

Iwasaki Y, Kizawa M, Hori N, Kitamoto T, Sobue G.

Clin Neurol Neurosurg. 2009 Sep;111(7):606-9. doi: 10.1016/j.clineuro.2009.03.008. Epub 2009 May 13.

PMID:
19443103
[PubMed - indexed for MEDLINE]
5.

A distinct phenotype of leg hyperreflexia in a Japanese family with Gerstmann-Sträussler-Scheinker syndrome (P102L).

Takazawa T, Ikeda K, Ito H, Aoyagi J, Nakamura Y, Miura K, Iwamoto K, Kano O, Kawabe K, Iwasaki Y.

Intern Med. 2010;49(4):339-42. Epub 2010 Feb 15.

PMID:
20154442
[PubMed - indexed for MEDLINE]
Free Article
6.

Gerstmann-Sträussler-Scheinker disease with P102L-V129 mutation: a case with psychiatric manifestations at onset.

Bianca M, Bianca S, Vecchio I, Raffaele R, Ingegnosi C, Nicoletti F.

Ann Genet. 2003 Oct-Dec;46(4):467-9.

PMID:
14659783
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

Gerstmann-Sträussler-Scheinker disease and the Indiana kindred.

Ghetti B, Dlouhy SR, Giaccone G, Bugiani O, Frangione B, Farlow MR, Tagliavini F.

Brain Pathol. 1995 Jan;5(1):61-75. Review.

PMID:
7767492
[PubMed - indexed for MEDLINE]
9.

Atypical frontotemporal dementia as a new clinical phenotype of Gerstmann-Straussler-Scheinker disease with the PrP-P102L mutation. Description of a previously unreported Italian family.

Giovagnoli AR, Di Fede G, Aresi A, Reati F, Rossi G, Tagliavini F.

Neurol Sci. 2008 Dec;29(6):405-10. doi: 10.1007/s10072-008-1025-z. Epub 2008 Nov 21.

PMID:
19030774
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

Familial Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles.

Ghetti B, Tagliavini F, Giaccone G, Bugiani O, Frangione B, Farlow MR, Dlouhy SR.

Mol Neurobiol. 1994 Feb;8(1):41-8. Review.

PMID:
7916191
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

Early clinical signs and imaging findings in Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu).

Arata H, Takashima H, Hirano R, Tomimitsu H, Machigashira K, Izumi K, Kikuno M, Ng AR, Umehara F, Arisato T, Ohkubo R, Nakabeppu Y, Nakajo M, Osame M, Arimura K.

Neurology. 2006 Jun 13;66(11):1672-8.

PMID:
16769939
[PubMed - indexed for MEDLINE]
16.

A Japanese family with a variant of Gerstmann-Sträussler-Scheinker disease.

Tanaka Y, Minematsu K, Moriyasu H, Yamaguchi T, Yutani C, Kitamoto T, Furukawa H.

J Neurol Neurosurg Psychiatry. 1997 May;62(5):454-7.

PMID:
9153600
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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
[PubMed - indexed for MEDLINE]
18.

Gerstmann-Sträussler-Scheinker disease in an Alsatian family: clinical and genetic studies.

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

J Neurol Neurosurg Psychiatry. 1992 Mar;55(3):185-7.

PMID:
1348783
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Gerstmann-Sträussler-Scheinker disease and the French-Alsatian A117V variant.

Mohr M, Tranchant C, Steinmetz G, Floquet J, Grignon Y, Warter JM.

Clin Exp Pathol. 1999;47(3-4):161-75.

PMID:
10472736
[PubMed - indexed for MEDLINE]
20.

The original Gerstmann-Sträussler-Scheinker family of Austria: divergent clinicopathological phenotypes but constant PrP genotype.

Hainfellner JA, Brantner-Inthaler S, Cervenáková L, Brown P, Kitamoto T, Tateishi J, Diringer H, Liberski PP, Regele H, Feucht M, et al.

Brain Pathol. 1995 Jul;5(3):201-11.

PMID:
8520719
[PubMed - indexed for MEDLINE]

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