Scholz, Sonja W.

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 4,409

Challenges in the diagnosis of Parkinson's disease

Tolosa, E., Garrido, A., Scholz, S. W., & Poewe, W. (2021) · The Lancet Neurology

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 1,874

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Johnson, J. O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V. M., Trojanowski, J. Q., Gibbs, J. R., Brunetti, M., Gronka, S., Wuu, J., et al. (2010) · Neuron

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 1,235

A genome-wide association study identifies protein quantitative trait loci (pQTLs)

Melzer, D., Perry, J. R. B., Hernandez, D., Corsi, A.-M., Stevens, K., Rafferty, I., Lauretani, F., Murray, A., Gibbs, J. R., Paolisso, G., et al. (2008) · PLoS Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 480

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Chia, R., Sabir, M. S., Bandres-Ciga, S., Saez-Atienzar, S., Reynolds, R. H., Gustavsson, E., Walton, R. L., Ahmed, S., Viollet, C., Ding, J., et al. (2021) · Nature Genetics

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 438

A reference human induced pluripotent stem cell line for large-scale collaborative studies

Pantazis, C. B., Yang, A., Lara, E., McDonough, J. A., Blauwendraat, C., Peng, L., Oguro, H., Kanaujiya, J., Zou, J., Sebesta, D., et al. (2022) · Cell Stem Cell

Pluripotent Stem Cells ResearchCRISPR and Genetic Engineering

Cited by 310

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

Guerreiro, R., Ross, O. A., Kun-Rodrigues, C., Hernandez, D. G., Orme, T., Eicher, J. D., Shepherd, C. E., Parkkinen, L., Darwent, L., Heckman, M. G., et al. (2018) · The Lancet Neurology

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 270

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

DESGESCO (Dementia Genetics Spanish Consortium), E. (. D. E. D. B., van der Lee, S. J., biobank), E. (. D. E. D., IFGC (International FTD-Genomics Consortium), I. (. I. P. D. G. C., IPDGC (The International Parkinson Disease Genomics Consortium), Dementia), R.-F. (. A. M. F. I. F.-T., (NBB), N. B. B., The GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, Conway, O. J., Jansen, I., et al. (2019) · Acta Neuropathologica

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 120

Human Herpesvirus 6 Detection in Alzheimer’s Disease Cases and Controls across Multiple Cohorts

Allnutt, M. A., Johnson, K., Bennett, D. A., Connor, S. M., Troncoso, J. C., Pletnikova, O., Albert, M. S., Resnick, S. M., Scholz, S. W., De Jager, P. L., et al. (2020) · Neuron

Alzheimer's disease research and treatmentsViral-associated cancers and disorders

Cited by 119

Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study

Jabbari, E., Koga, S., Valentino, R. R., Reynolds, R. H., Ferrari, R., Tan, M. M. X., Rowe, J. B., Dalgard, C. L., Scholz, S. W., Dickson, D. W., et al. (2021) · The Lancet Neurology

Parkinson's Disease Mechanisms and TreatmentsAlzheimer's disease research and treatments

Cited by 111

A Double‐Blind, Randomized, Placebo‐Controlled Trial of Ursodeoxycholic Acid (UDCA) in Parkinson's Disease

Payne, T., Appleby, M., Buckley, E., van Gelder, L. M. A., Mullish, B. H., Sassani, M., Dunning, M. J., Hernandez, D., Scholz, S. W., McNeill, A., et al. (2023) · Movement Disorders

Parkinson's Disease Mechanisms and TreatmentsNuclear Receptors and Signaling

Cited by 76

Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene

Toffoli, M., Chen, X., Sedlazeck, F. J., Lee, C.-Y., Mullin, S., Higgins, A., Koletsi, S., Garcia-Segura, M. E., Sammler, E., Scholz, S. W., et al. (2022) · Communications Biology

Lysosomal Storage Disorders ResearchGenomics and Rare Diseases

Cited by 59

Assessment of APOE in atypical parkinsonism syndromes

Sabir, M. S., Blauwendraat, C., Ahmed, S., Serrano, G. E., Beach, T. G., Perkins, M., Rice, A. C., Masliah, E., Morris, C. M., Pihlstrom, L., et al. (2019) · Neurobiology of Disease

Parkinson's Disease Mechanisms and TreatmentsAlzheimer's disease research and treatments

Cited by 28

Lewy body dementia: overcoming barriers and identifying solutions

Agarwal, K., Backler, W., Bayram, E., Bloom, L., Boeve, B. F., Cha, J., Denslow, M., Ferman, T. J., Galasko, D., Galvin, J. E., et al. (2024) · Alzheimer's & Dementia

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 25

Prion genotypes in Central America suggest selection for the V129 allele

Hardy, J., Scholz, S., Evans, W., Goldfarb, L., & Singleton, A. (2006) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Prion Diseases and Protein MisfoldingGenetic diversity and population structure

Cited by 7