Ralitza Gavrilova

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

Bradley F. Boeve, Neill R. Graff‐Radford, Mariely DeJesus‐Hernandez et al. · Brain · 2012 · 347 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Katrina Moore, Jennifer Nicholas, Murray Grossman et al. · The Lancet Neurology · 2019 · 311 citations · Full text

Medicine, Genetics, Neurology +17

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy

Bruce Nmezi, Elisa Giorgio, Raili Raininko et al. · Neurology Genetics · 2019 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Identification of an <i>Alu</i> element‐mediated deletion in the promoter region of <i><scp>GNE</scp></i> in siblings with <scp>GNE</scp> myopathy

Jennifer Garland, Joshi Stephen, Bradley Class et al. · Molecular Genetics & Genomic Medicine · 2017 · 21 citations · Full text

Medicine, Genetics, Molecular Genetics +16