Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis

MEG and EEG data analysis with MNE-Python

Alexandre Gramfort · Frontiers in Neuroscience · 2013 · 4K citations · Full text

Life Sciences, Bioengineering, Neuroscience +17

A Lethal Defect of Mitochondrial and Peroxisomal Fission

Hans R. Waterham, Janet Koster, Carlo W.T. van Roermund et al. · New England Journal of Medicine · 2007 · 743 citations

Life Sciences, Genetics, Neuroscience +17

Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement

Joanne Betts, Evelyn Jaros, R. H. Perry et al. · Neuropathology and Applied Neurobiology · 2006 · 142 citations

Life Sciences, Neurology, Neuroscience +17

A novel de novo dominant negative mutation in <i>DNM1L</i> impairs mitochondrial fission and presents as childhood epileptic encephalopathy

Jill A. Fahrner, Raymond Liu, Μ. Scott Perry et al. · American Journal of Medical Genetics Part A · 2016 · 135 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission

S. Gerber, Majida Charif, Arnaud Chevrollier et al. · Brain · 2017 · 123 citations · Full text

Life Sciences, Genetics, Neuroscience +17