Karen Morrison

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Elisa Majounie, Alan E. Renton, Kin Y. Mok et al. · The Lancet Neurology · 2012 · 1.2K citations · Full text

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Dementia +7

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis

Matthew Greenway, Peter M. Andersen, Carsten Russ et al. · Nature Genetics · 2006 · 654 citations

Neurodegenerative Diseases, Ang Mutations, Mendelian Disorder +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

Detection of long repeat expansions from PCR-free whole-genome sequence data

Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw et al. · Genome Research · 2017 · 413 citations · Full text