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Journal of the Neurological Sciences|March 22, 2017
Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotypeToru Yamashita, Jun Mitsui, Nobuyuki Shimozawa, et al.
Pediatric Research|July 12, 2005
Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorderKazuyuki Hashimoto, Zenichiro Kato, Tomoko Nagase, et al.
Archives of Neurology|October 15, 2008
Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosisYuji Takahashi, Naomi Seki, Hiroyuki Ishiura, et al.
European Journal of Human Genetics : EJHG|June 23, 2026
Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorderKazuyuki Komatsu, Atsushi Sugie, Yohei Nitta, et al.
American Journal of Human Genetics|March 2, 2002
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parentsAnnick Raas-Rothschild, Ronald J A Wanders, Petra A W Mooijer, et al.
Neurogenetics|October 5, 2013
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhoodChihiro Ohba, Hitoshi Osaka, Mizue Iai, et al.
Endocrine Journal|September 23, 2010
Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophyYoko Miyoshi, Norio Sakai, Yusuke Hamada, et al.
Neurology|January 28, 2014
Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in JapanMegumi Yamada, Masaki Tanaka, Mari Takagi, et al.
Molecular Genetics and Metabolism Reports|December 7, 2018
Allogeneic stem cell transplantation with reduced intensity conditioning for patients with adrenoleukodystrophyKoji Kato, Ryo Maemura, Manabu Wakamatsu, et al.
Plos Genetics|March 6, 2013
Tysnd1 deficiency in mice interferes with the peroxisomal localization of PTS2 enzymes, causing lipid metabolic abnormalities and male infertilityYumi Mizuno, Yuichi Ninomiya, Yutaka Nakachi, et al.
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