Midori Sugawara
Tokyo, Japan
Last Updated: 09/26/2026
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Found 8 publications
Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes.
Journal: Brain & development
Published: October 05, 2012
Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients.
Journal: American journal of medical genetics. Part A
Published: September 02, 2012
Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.
Journal: Journal of human genetics
Published: June 15, 2012
Interstitial duplication of 2q32.1-q33.3 in a patient with epilepsy, developmental delay, and autistic behavior.
Journal: American journal of medical genetics. Part A
Published: May 08, 2012
An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease.
Journal: American journal of medical genetics. Part A
Published: December 22, 2011
Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.
Journal: European journal of medical genetics
Published: September 28, 2011
Showing 1-8 of 8
Last Updated: 09/26/2026