Patricia H. Brown

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

Marka van Blitterswijk, Mariely DeJesus‐Hernandez, Ellis Niemantsverdriet et al. · The Lancet Neurology · 2013 · 269 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

Marka van Blitterswijk, Bianca Mullen, Alexandra M. Nicholson et al. · Acta Neuropathologica · 2014 · 158 citations · Full text

Medicine, Molecular Genetics, Neurology +11

Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease

Mark Ebbert, Stefan L. Farrugia, Jonathon Sens et al. · Molecular Neurodegeneration · 2018 · 131 citations · Full text

Life Sciences, Genetics, Neurology +17

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72

Marka van Blitterswijk, Tania F. Gendron, Matthew Baker et al. · Acta Neuropathologica · 2015 · 119 citations

Life Sciences, Genetics, Molecular Genetics +12

TYROBP genetic variants in early-onset Alzheimer's disease

Cyril Pottier, Thomas A. Ravenscroft, Patricia H. Brown et al. · Neurobiology of Aging · 2016 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14