Daniah Trabzuni

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

Alan E. Renton, Elisa Majounie, Adrian J. Waite et al. · Neuron · 2011 · 4.4K citations · Full text

Chromatin, Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis +8

Genetic variability in the regulation of gene expression in ten regions of the human brain

Adaikalavan Ramasamy, Daniah Trabzuni, Sebastian Guelfi et al. · Nature Neuroscience · 2014 · 698 citations · Full text

Neurogenomics, Brain Structure, Neurophysiology +11

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease

Carlos Cruchaga, Celeste M. Karch, Sheng Chih Jin et al. · Nature · 2013 · 472 citations · Full text

Neurodegenerative Diseases, Alzheimer's Disease, Molecular Neuroscience +8

Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

Laurie Robak, Iris E. Jansen, Jeroen van Rooij et al. · Brain · 2017 · 440 citations · Full text

Genetics, Genetic Epidemiology, Variant Burden +16

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Suzanne Lesage, Valérie Drouet, Elisa Majounie et al. · The American Journal of Human Genetics · 2016 · 427 citations · Full text

Cell Autophagy, Mitophagy, Mitochondrial Function +7