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Items: 1 to 20 of 92

1.

Clinicopathologic study of a SNCA gene duplication patient with Parkinson disease and dementia.

Obi T, Nishioka K, Ross OA, Terada T, Yamazaki K, Sugiura A, Takanashi M, Mizoguchi K, Mori H, Mizuno Y, Hattori N.

Neurology. 2008 Jan 15;70(3):238-41. doi: 10.1212/01.wnl.0000299387.59159.db. No abstract available.

PMID:
18195271
2.

Clinical and neuroimaging features of patient with early-onset Parkinson's disease with dementia carrying SNCA p.G51D mutation.

Tokutake T, Ishikawa A, Yoshimura N, Miyashita A, Kuwano R, Nishizawa M, Ikeuchi T.

Parkinsonism Relat Disord. 2014 Feb;20(2):262-4. doi: 10.1016/j.parkreldis.2013.11.008. Epub 2013 Nov 20. No abstract available.

PMID:
24315198
3.

Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication.

Fuchs J, Nilsson C, Kachergus J, Munz M, Larsson EM, Schüle B, Langston JW, Middleton FA, Ross OA, Hulihan M, Gasser T, Farrer MJ.

Neurology. 2007 Mar 20;68(12):916-22. Epub 2007 Jan 24.

PMID:
17251522
4.

Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation.

Kiely AP, Ling H, Asi YT, Kara E, Proukakis C, Schapira AH, Morris HR, Roberts HC, Lubbe S, Limousin P, Lewis PA, Lees AJ, Quinn N, Hardy J, Love S, Revesz T, Houlden H, Holton JL.

Mol Neurodegener. 2015 Aug 27;10:41. doi: 10.1186/s13024-015-0038-3.

5.

Expanding the clinical phenotype of SNCA duplication carriers.

Nishioka K, Ross OA, Ishii K, Kachergus JM, Ishiwata K, Kitagawa M, Kono S, Obi T, Mizoguchi K, Inoue Y, Imai H, Takanashi M, Mizuno Y, Farrer MJ, Hattori N.

Mov Disord. 2009 Sep 15;24(12):1811-9. doi: 10.1002/mds.22682.

PMID:
19562770
6.

Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism.

Bernardi L, Tomaino C, Anfossi M, Gallo M, Geracitano S, Puccio G, Colao R, Frangipane F, Mirabelli M, Smirne N, Maletta RG, Bruni AC.

J Neurol. 2008 Apr;255(4):604-6. doi: 10.1007/s00415-008-0764-3. Epub 2008 Mar 25. No abstract available.

PMID:
18350357
7.

alpha-Synuclein gene duplication is present in sporadic Parkinson disease.

Ahn TB, Kim SY, Kim JY, Park SS, Lee DS, Min HJ, Kim YK, Kim SE, Kim JM, Kim HJ, Cho J, Jeon BS.

Neurology. 2008 Jan 1;70(1):43-9. Epub 2007 Jul 11.

PMID:
17625105
8.

Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease.

Nishioka K, Hayashi S, Farrer MJ, Singleton AB, Yoshino H, Imai H, Kitami T, Sato K, Kuroda R, Tomiyama H, Mizoguchi K, Murata M, Toda T, Imoto I, Inazawa J, Mizuno Y, Hattori N.

Ann Neurol. 2006 Feb;59(2):298-309.

PMID:
16358335
9.

Genomic investigation of alpha-synuclein multiplication and parkinsonism.

Ross OA, Braithwaite AT, Skipper LM, Kachergus J, Hulihan MM, Middleton FA, Nishioka K, Fuchs J, Gasser T, Maraganore DM, Adler CH, Larvor L, Chartier-Harlin MC, Nilsson C, Langston JW, Gwinn K, Hattori N, Farrer MJ.

Ann Neurol. 2008 Jun;63(6):743-50. doi: 10.1002/ana.21380.

10.

Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene.

Hinttala R, Karttunen V, Karttunen A, Herva R, Uusimaa J, Remes AM.

Acta Neuropathol. 2007 Nov;114(5):543-5. Epub 2007 Sep 6. No abstract available.

PMID:
17805552
11.

Tau haplotype affects CSF Tau levels in frontotemporal dementia: implication for diagnostic purposes.

Borroni B, Di Luca M, Padovani A.

J Neurol. 2006 Jul;253(7):946. Epub 2006 May 24. No abstract available.

PMID:
16705474
12.

Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.

Proukakis C, Shoaee M, Morris J, Brier T, Kara E, Sheerin UM, Charlesworth G, Tolosa E, Houlden H, Wood NW, Schapira AH.

Mov Disord. 2014 Jul;29(8):1060-4. doi: 10.1002/mds.25883. Epub 2014 Apr 21.

13.

Multiple alpha-synuclein gene polymorphisms are associated with Parkinson's disease in a Norwegian population.

Myhre R, Toft M, Kachergus J, Hulihan MM, Aasly JO, Klungland H, Farrer MJ.

Acta Neurol Scand. 2008 Nov;118(5):320-7. doi: 10.1111/j.1600-0404.2008.01019.x. Epub 2008 May 15.

PMID:
18485051
14.

A 75-year-old man with cognitive impairment and gait changes.

Lippa CF, Boeve BF, Parisi JE, Keegan BM.

Neurology. 2007 Sep 11;69(11):1183-9. No abstract available.

PMID:
17846418
15.

Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia.

Ikeuchi T, Kakita A, Shiga A, Kasuga K, Kaneko H, Tan CF, Idezuka J, Wakabayashi K, Onodera O, Iwatsubo T, Nishizawa M, Takahashi H, Ishikawa A.

Arch Neurol. 2008 Apr;65(4):514-9. doi: 10.1001/archneur.65.4.514.

PMID:
18413475
16.

A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations.

Kara E, Kiely AP, Proukakis C, Giffin N, Love S, Hehir J, Rantell K, Pandraud A, Hernandez DG, Nacheva E, Pittman AM, Nalls MA, Singleton AB, Revesz T, Bhatia KP, Quinn N, Hardy J, Holton JL, Houlden H.

JAMA Neurol. 2014 Sep;71(9):1162-71. doi: 10.1001/jamaneurol.2014.994.

17.

SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies.

Johnson J, Hague SM, Hanson M, Gibson A, Wilson KE, Evans EW, Singleton AA, McInerney-Leo A, Nussbaum RL, Hernandez DG, Gallardo M, McKeith IG, Burn DJ, Ryu M, Hellstrom O, Ravina B, Eerola J, Perry RH, Jaros E, Tienari P, Weiser R, Gwinn-Hardy K, Morris CM, Hardy J, Singleton AB.

Neurology. 2004 Aug 10;63(3):554-6.

PMID:
15304594
18.

85-year old man with Parkinson's disease accompanying dementia.

Sakatu M.

Brain Nerve. 2010 Jun;62(6):635-42. No abstract available.

PMID:
20593577
19.

Late-onset frontotemporal dementia associated with a novel PGRN mutation.

Lladó A, Sánchez-Valle R, Reñé R, Ezquerra M, Rey MJ, Tolosa E, Ferrer I, Molinuevo JL.

J Neural Transm (Vienna). 2007;114(8):1051-4. Epub 2007 Apr 10.

PMID:
17417739
20.

The role of alpha-synuclein gene multiplications in early-onset Parkinson's disease and dementia with Lewy bodies.

Hofer A, Berg D, Asmus F, Niwar M, Ransmayr G, Riemenschneider M, Bonelli SB, Steffelbauer M, Ceballos-Baumann A, Haussermann P, Behnke S, Krüger R, Prestel J, Sharma M, Zimprich A, Riess O, Gasser T.

J Neural Transm (Vienna). 2005 Sep;112(9):1249-54. Epub 2004 Dec 29.

PMID:
15622440

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