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The American Journal of Pathology|May 8, 2021
Lectin-Like Oxidized Low-Density Lipoprotein Receptor-1-Related Microglial Activation in Neonatal Hypoxic-Ischemic Encephalopathy: Morphologic ConsiderationTomohisa Akamatsu, Takehiro Sugiyama, Takuya Oshima, et al.Human Molecular Genetics|September 15, 2007
Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domainKen Inoue, Tomoko Ohyama, Yosuke Sakuragi, et al.Journal of Neurology|April 25, 2012
Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophyShinsuke Maruyama, Yoshiaki Saito, Eiji Nakagawa, et al.Brain & Development|November 28, 2012
Unusual exocrine complication of pancreatitis in mitochondrial diseaseAkihiko Ishiyama, Hirofumi Komaki, Takashi Saito, et al.Molecular Genetics and Metabolism Reports|November 30, 2016
A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndromeHiroko Shimbo, Mariko Takagi, Mitsuko Okuda, et al.Journal of Neuropathology and Experimental Neurology|February 7, 2007
Methyl CpG-binding protein 2 (a mutation of which causes Rett syndrome) directly regulates insulin-like growth factor binding protein 3 in mouse and human brainsMasayuki Itoh, Shuhei Ide, Sachio Takashima, et al.Journal of Assisted Reproduction and Genetics|March 8, 2007
The development of novel quantification assay for mitochondrial DNA heteroplasmy aimed at preimplantation genetic diagnosis of Leigh encephalopathyHiroto Tajima, Kou Sueoka, Sung Yung Moon, et al.The Journal of Biological Chemistry|January 7, 2004
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuolesSatoru Noguchi, Yoko Keira, Kumiko Murayama, et al.Neuropathology : Official Journal of the Japanese Society of Neuropathology|January 12, 2005
Dysferlinopathy associated with rigid spine syndromeToshiko Nagashima, Takayo Chuma, Yukio Mano, et al.Human Molecular Genetics|July 17, 2009
Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in miceKunio Kitamura, Yukiko Itou, Masako Yanazawa, et al.Pageof 20