Chizuru Akimoto

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in <i>C9orf72</i> reveals marked differences in results among 14 laboratories

Chizuru Akimoto, Alexander E. Volk, Marka van Blitterswijk et al. · Journal of Medical Genetics · 2014 · 141 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD

Angelica Nordin, Chizuru Akimoto, Anna Wuolikainen et al. · Human Molecular Genetics · 2015 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts

Caroline Ingre, John E. Landers, Naji Rizik et al. · Neurobiology of Aging · 2012 · 86 citations · Full text

Life Sciences, Neurology, Neuroscience +14

PGC-1  is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis

J. W. Eschbach, Birgit Schwalenstöcker, Selma M. Soyal et al. · Human Molecular Genetics · 2013 · 78 citations · Full text

Life Sciences, Genetics, Neurology +17

Translational repression of the McKusick–Kaufman syndrome transcript by unique upstream open reading frames encoding mitochondrial proteins with alternative polyadenylation sites

Chizuru Akimoto, Eiji Sakashita, Katsumi Kasashima et al. · Biochimica et Biophysica Acta (BBA) - General Subjects · 2012 · 51 citations

Life Sciences, Genetics, Molecular Biology +17