The paper investigates the genetic role of SLC25A46 in Parkinson's disease, REM sleep behavior disorder, and Dementia with Lewy Bodies, finding no significant associations.

Journal of Parkinson s Disease · Aug 6, 2026Peer-reviewedGenetic & Genomic Medicine

The GBA1 p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-Analysis

Leah V. Chifamba, Sitki Cem Parlar, Emma N. Somerville, Lang Liu, Eric Yu, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Jennifer A. Ruskey, Cheryl Waters, Oury Monchi, Yves A Dauvilliers, Nicolas Dupré, Alla Timofeeva, Anton Emelyanov, , Ziv Gan‐Or

This study finds the GBA1 p.E427K variant increases risk for synucleinopathies through a meta-analysis of case-control studies.

Movement Disorders · May 22, 2026Peer-reviewedGenetic & Genomic Medicine

No Evidence for Genetic Role of the Tumor Necrosis Factor Pathway in Parkinson's Disease

Morvarid Ghamgosar Shahkhali, Lang Liu, Emma N. Somerville, Alastair John Noyce, Ziv Gan‐Or, Konstantin A. Senkevich

This study uses Mendelian Randomization to test if TNF pathway genes are genetically linked to Parkinson's disease or RBD, finding no evidence of such a link.

npj Parkinson s Disease · Dec 9, 2025Peer-reviewedGenetic & Genomic Medicine

Genome-wide association study of glucocerebrosidase activity modifiers.

Emma N. Somerville, Lynne Krohn, Konstantin A. Senkevich, Eric Yu, Jamil Ahmad, Farnaz Asayesh, Jennifer A. Ruskey, Dan Spiegelman, Stanley Fahn, Cheryl Waters, S. Pablo Sardi, Roy N. Alcalay, Ziv Gan‐Or

This study identifies genetic variants associated with glucocerebrosidase activity using GWAS in two cohorts, finding GBA1 variants and a novel association in the GAA locus.

Molecular Neurobiology · Apr 29, 2025Peer-reviewedGenetics

Plasma glucosylceramide levels are regulated by ATP10D and are not involved in Parkinson's disease pathogenesis.

Emma N. Somerville, Alva James, Christian Beetz, Robert Schwieger, Gal Barrel, Krishna Kumar Kandaswamy, Marius I. Iurascu, Peter O. Bauer, Michael Ta, Hirotaka Iwaki, Konstantin A. Senkevich, Eric Yu, Roy N. Alcalay, Ziv Gan‐Or

The paper investigates the role of ATP10D and GlcCer in Parkinson's disease, finding ATP10D regulates plasma GlcCer levels but is not involved in PD pathogenesis.

Annals of Neurology · Mar 1, 2025Peer-reviewedGenetic & Genomic Medicine

NPC1 variants are not associated with Parkinson's disease, REM-sleep behaviour disorder or Dementia with Lewy bodies in European cohorts.

Emma N. Somerville, Lynne Krohn, Eric Yu, Uladzislau Rudakou, Konstantin A. Senkevich, Jennifer A. Ruskey, Farnaz Asayesh, Jamil Ahmad, Dan Spiegelman, Yves A Dauvilliers, Isabelle Arnulf, Michele T.M. Hu, Jacques Yves Montplaisir, Jean‐François Gagnon, Alex Désautels, , Ziv Gan‐Or

This study examines the association of NPC1 variants with Parkinson's disease, REM-sleep behavior disorder, and dementia with Lewy bodies in European cohorts and finds no significant associations.

medRxiv · Nov 8, 2022 · PreprintGenetic & Genomic Medicine