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Sonja W. Scholz
Sonja W. Scholz
National Institute of Neurological Disorders and Stroke
在 nih.gov 的电子邮件经过验证 - 首页
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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
AE Renton, E Majounie, A Waite, J Simón-Sánchez, S Rollinson, ...
Neuron 72 (2), 257-268, 2011
47652011
Genome-wide association study reveals genetic risk underlying Parkinson's disease
J Simon-Sanchez, C Schulte, JM Bras, M Sharma, JR Gibbs, D Berg, ...
Nature genetics 41 (12), 1308-1312, 2009
22062009
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
MA Nalls, C Blauwendraat, CL Vallerga, K Heilbron, S Bandres-Ciga, ...
The Lancet Neurology 18 (12), 1091-1102, 2019
16372019
Exome sequencing reveals VCP mutations as a cause of familial ALS
JO Johnson, J Mandrioli, M Benatar, Y Abramzon, VM Van Deerlin, ...
Neuron 68 (5), 857-864, 2010
14472010
Genotype, haplotype and copy-number variation in worldwide human populations
M Jakobsson, SW Scholz, P Scheet, JR Gibbs, JM VanLiere, HC Fung, ...
Nature 451 (7181), 998-1003, 2008
10222008
Challenges in the diagnosis of Parkinson's disease
E Tolosa, A Garrido, SW Scholz, W Poewe
The Lancet Neurology 20 (5), 385-397, 2021
7422021
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ...
Neuron 97 (6), 1268-1283. e6, 2018
5992018
A genome-wide association study identifies protein quantitative trait loci (pQTLs)
D Melzer, JR Perry, D Hernandez, AM Corsi, K Stevens, I Rafferty, ...
PLoS Genet 4 (5), e1000072, 2008
5512008
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data
HC Fung, S Scholz, M Matarin, J Simón-Sánchez, D Hernandez, A Britton, ...
The Lancet Neurology 5 (11), 911-916, 2006
4732006
SNCA variants are associated with increased risk for multiple system atrophy
SW Scholz, H Houlden, C Schulte, M Sharma, A Li, D Berg, A Melchers, ...
Annals of neurology 65 (5), 610-614, 2009
3242009
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
J Van de Leemput, J Chandran, MA Knight, LA Holtzclaw, S Scholz, ...
PLoS Genet 3 (6), e108, 2007
3212007
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study
H Laaksovirta, T Peuralinna, JC Schymick, SW Scholz, SL Lai, ...
The Lancet Neurology 9 (10), 978-985, 2010
3152010
Parkinson's disease age at onset genome‐wide association study: Defining heritability, genetic loci, and α‐synuclein mechanisms
C Blauwendraat, K Heilbron, CL Vallerga, S Bandres‐Ciga, R von Coelln, ...
Movement Disorders 34 (6), 866-875, 2019
2952019
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals
J Simon-Sanchez, S Scholz, HC Fung, M Matarin, D Hernandez, JR Gibbs, ...
Human molecular genetics 16 (1), 1-14, 2006
2822006
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data
JC Schymick, SW Scholz, HC Fung, A Britton, S Arepalli, JR Gibbs, ...
The Lancet Neurology 6 (4), 322-328, 2007
2672007
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA
S Camargos, S Scholz, J Simón-Sánchez, C Paisán-Ruiz, P Lewis, ...
The Lancet Neurology 7 (3), 207-215, 2008
2562008
A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release
M Matarín, WM Brown, S Scholz, J Simón-Sánchez, HC Fung, ...
The Lancet Neurology 6 (5), 414-420, 2007
2512007
Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study
R Guerreiro, OA Ross, C Kun-Rodrigues, DG Hernandez, T Orme, ...
The Lancet Neurology 17 (1), 64-74, 2018
2442018
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
R Chia, MS Sabir, S Bandres-Ciga, S Saez-Atienzar, RH Reynolds, ...
Nature genetics 53 (3), 294-303, 2021
2382021
Genetic modifiers of risk and age at onset in GBA associated Parkinson’s disease and Lewy body dementia
C Blauwendraat, X Reed, L Krohn, K Heilbron, S Bandres-Ciga, M Tan, ...
Brain 143 (1), 234-248, 2020
1902020
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