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Neurocase|December 4, 2012
The GGGGCC repeat expansion in C9ORF72 in a case with discordant clinical and FDG-PET findings: PET trumps syndromeAnahita Adeli, Rodolfo Savica, Val J Lowe, et al.
Molecular Neurodegeneration|December 21, 2024
Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansionEvan Udine, NiCole A Finch, Mariely DeJesus-Hernandez, et al.
Brain : a Journal of Neurology|February 21, 2012
Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9pGing-Yuek R Hsiung, Mariely DeJesus-Hernandez, Howard H Feldman, et al.
Acta Neuropathologica|November 16, 2011
Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72Melissa E Murray, Mariely DeJesus-Hernandez, Nicola J Rutherford, et al.
Archives of Neurology|September 12, 2012
Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutationLeonel T Takada, Maria Lucia V Pimentel, Mariely Dejesus-Hernandez, et al.
Brain Pathology (Zurich, Switzerland)|July 11, 2024
Upper motor neuron-predominant motor neuron disease presenting as atypical parkinsonism: A clinicopathological studyAya Murakami, Shunsuke Koga, Shinsuke Fujioka, et al.
Neuron|February 19, 2013
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALSPeter E A Ash, Kevin F Bieniek, Tania F Gendron, et al.
Brain : a Journal of Neurology|August 23, 2011
FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutationsManuela Neumann, Eva Bentmann, Dorothee Dormann, et al.
Molecular Neurodegeneration|February 1, 2020
Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriersJazmyne L Jackson, NiCole A Finch, Matthew C Baker, et al.
Acta Neuropathologica|August 8, 2013
Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72Melissa E Murray, Kevin F Bieniek, M Banks Greenberg, et al.
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