Singleton AB - Search Results

1

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases.

Sailer A, Scholz SW, Gibbs JR, Tucci A, Johnson JO, Wood NW, Plagnol V, Hummerich H, Ding J, Hernandez D, Hardy J, Federoff HJ, Traynor BJ, Singleton AB, Houlden H. Sailer A, et al. Among authors: singleton ab. Neurology. 2012 Jul 10;79(2):127-31. doi: 10.1212/WNL.0b013e31825f048e. Epub 2012 Jun 6. Neurology. 2012. PMID: 22675081 Free PMC article.

2

Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.

Hernandez DG, Paisán-Ruíz C, McInerney-Leo A, Jain S, Meyer-Lindenberg A, Evans EW, Berman KF, Johnson J, Auburger G, Schäffer AA, Lopez GJ, Nussbaum RL, Singleton AB. Hernandez DG, et al. Among authors: singleton ab. Ann Neurol. 2005 Mar;57(3):453-6. doi: 10.1002/ana.20401. Ann Neurol. 2005. PMID: 15732108

3

Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan.

Fung HC, Chen CM, Hardy J, Singleton AB, Lee-Chen GJ, Wu YR. Fung HC, et al. Among authors: singleton ab. Neurosci Lett. 2006 Feb 6;394(1):33-6. doi: 10.1016/j.neulet.2005.10.005. Epub 2005 Oct 27. Neurosci Lett. 2006. PMID: 16257123

4

Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data.

Khan NL, Jain S, Lynch JM, Pavese N, Abou-Sleiman P, Holton JL, Healy DG, Gilks WP, Sweeney MG, Ganguly M, Gibbons V, Gandhi S, Vaughan J, Eunson LH, Katzenschlager R, Gayton J, Lennox G, Revesz T, Nicholl D, Bhatia KP, Quinn N, Brooks D, Lees AJ, Davis MB, Piccini P, Singleton AB, Wood NW. Khan NL, et al. Among authors: singleton ab. Brain. 2005 Dec;128(Pt 12):2786-96. doi: 10.1093/brain/awh667. Epub 2005 Nov 4. Brain. 2005. PMID: 16272164

5

Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23.

Shatunov A, Sambuughin N, Jankovic J, Elble R, Lee HS, Singleton AB, Dagvadorj A, Ji J, Zhang Y, Kimonis VE, Hardy J, Hallett M, Goldfarb LG. Shatunov A, et al. Among authors: singleton ab. Brain. 2006 Sep;129(Pt 9):2318-31. doi: 10.1093/brain/awl120. Epub 2006 May 15. Brain. 2006. PMID: 16702189 Free article.

6

A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.

Fung HC, Chen CM, Hardy J, Singleton AB, Wu YR. Fung HC, et al. Among authors: singleton ab. BMC Neurol. 2006 Dec 22;6:47. doi: 10.1186/1471-2377-6-47. BMC Neurol. 2006. PMID: 17187665 Free PMC article.

7

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.

van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, Hardy J, Storey E, Gardner RJ, Forrest SM, Fisher EM, Russell JT, Cai H, Singleton AB. van de Leemput J, et al. Among authors: singleton ab. PLoS Genet. 2007 Jun;3(6):e108. doi: 10.1371/journal.pgen.0030108. Epub 2007 May 16. PLoS Genet. 2007. PMID: 17590087 Free PMC article.

8

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW. Houlden H, et al. Among authors: singleton ab. Nat Genet. 2007 Dec;39(12):1434-6. doi: 10.1038/ng.2007.43. Epub 2007 Nov 25. Nat Genet. 2007. PMID: 18037885

9

Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls.

Paisán-Ruíz C, Nath P, Washecka N, Gibbs JR, Singleton AB. Paisán-Ruíz C, et al. Among authors: singleton ab. Hum Mutat. 2008 Apr;29(4):485-90. doi: 10.1002/humu.20668. Hum Mutat. 2008. PMID: 18213618

10

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.

Camargos S, Scholz S, Simón-Sánchez J, Paisán-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB. Camargos S, et al. Among authors: singleton ab. Lancet Neurol. 2008 Mar;7(3):207-15. doi: 10.1016/S1474-4422(08)70022-X. Epub 2008 Feb 1. Lancet Neurol. 2008. PMID: 18243799

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