Elisa Majounie
Illumina (United States)(US)
Publications by Year
Research Areas
Parkinson's Disease Mechanisms and Treatments, Amyotrophic Lateral Sclerosis Research, Neurological diseases and metabolism, Genetic Neurodegenerative Diseases, Alzheimer's disease research and treatments
Most-Cited Works
- → A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD(2011)4,423 cited
- → TREM2 Variants in Alzheimer's Disease(2012)3,022 cited
- → Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study(2012)1,213 cited
- → Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease(2017)1,083 cited
- → Common polygenic variation enhances risk prediction for Alzheimer’s disease(2015)448 cited
- → Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy(2016)433 cited
- → Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72(2012)205 cited
- → Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers(2014)195 cited
- → Pan-cancer analysis of advanced patient tumors reveals interactions between therapy and genomic landscapes(2020)170 cited
- → Systematic Review and UK‐Based Study of PARK2 (parkin), PINK1, PARK7 (DJ‐1) and LRRK2 in early‐onset Parkinson's disease(2012)169 cited