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Cerebellum & Ataxias|June 27, 2020
Intrafamilial phenotypic variation in spinocerebellar ataxia type 23Shunichi Satoh, Yasufumi Kondo, Shinji Ohara, et al.
Biological & Pharmaceutical Bulletin|November 5, 2008
Intracisternal, but not intrathecal, injection of naloxone inhibits cutaneous itch-related response in miceYasushi Kuraishi, Yuichi Yageta, Mitsuhiro Konno, et al.
The Journal of Investigative Dermatology|April 13, 2007
Thromboxane A2 induces itch-associated responses through TP receptors in the skin in miceTsugunobu Andoh, Yumi Nishikawa, Tomomi Yamaguchi-Miyamoto, et al.
Neurology. Genetics|December 19, 2022
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1Yasufumi Kondo, Tsuneaki Yoshinaga, Katsuya Nakamura, et al.
Meat Science|July 13, 2010
Overexpression of NUDT7, a candidate quantitative trait locus for pork color, downregulates heme biosynthesis in L6 myoblastsMasaaki Taniguchi, Takeshi Hayashi, Masahiro Nii, et al.
Gynecologic Oncology Reports|January 27, 2025
Surgical management of endometrial cancer in patient with musculocontractural Ehlers-Danlos Syndrome harboring pathogenic variants in CHST14 (mcEDS-CHST14): A case reportYuta Shioya, Hirofumi Ando, Tsutomu Miyamoto, et al.
Respiratory Medicine Case Reports|May 30, 2023
A patient with pleuroparenchymal fibroelastosis carrying a novel fibrillin-2 gene variantKouko Hidaka, Tetsuichiro Inai, Tomoki Kosho, et al.
European Journal of Medical Genetics|July 17, 2017
Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegenerationKyoko Takano, Kazuya Goto, Mitsuo Motobayashi, et al.
American Journal of Medical Genetics. Part A|October 21, 2015
Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literatureKyoko Takano, Naoko Shiba, Keiko Wakui, et al.
Frontiers in Genetics|May 22, 2023
Case report: further delineation of AEBP1-related Ehlers-Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literatureTomomi Yamaguchi, Shujiro Hayashi, So Nagai, et al.
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