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American Journal of Medical Genetics. Part A|October 1, 2015
A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiencyTaku Nakagawa, Mariko Taniguchi-Ikeda, Yoshiko Murakami, et al.
Neurology|April 8, 2014
PIGA mutations cause early-onset epileptic encephalopathies and distinctive featuresMitsuhiro Kato, Hirotomo Saitsu, Yoshiko Murakami, et al.
American Journal of Human Genetics|June 12, 2012
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardationPeter M Krawitz, Yoshiko Murakami, Jochen Hecht, et al.
Nature Medicine|June 13, 2006
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiencyAntonio M Almeida, Yoshiko Murakami, D Mark Layton, et al.
Blood|August 31, 2006
Molecular basis of clonal expansion of hematopoiesis in 2 patients with paroxysmal nocturnal hemoglobinuria (PNH)Norimitsu Inoue, Tomohisa Izui-Sarumaru, Yoshiko Murakami, et al.
European Journal of Medical Genetics|December 6, 2019
A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorderMiles D Thompson, Alexej A Knaus, Bruce A Barshop, et al.
American Journal of Human Genetics|April 9, 2013
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disabilityLars Hansen, Hasan Tawamie, Yoshiko Murakami, et al.
International Journal of Clinical Oncology|February 16, 2023
Macroscopic and multiple metastases in sentinel lymph node biopsy are respectively associated with poor prognosis in early oral cancerTakahito Kondo, Kiyoaki Tsukahara, Daisuke Kawakita, et al.
European Journal of Medical Genetics|December 9, 2023
Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literatureYuri Sonoda, Atsushi Fujita, Michiko Torio, et al.
European Journal of Human Genetics : EJHG|March 23, 2017
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disordersAlistair T Pagnamenta, Yoshiko Murakami, John M Taylor, et al.
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