TY - GEN AU - Yamashita,Toru AU - Mitsui,Jun AU - Shimozawa,Nobuyuki AU - Takashima,Shigeo AU - Umemura,Hiroshi AU - Sato,Kota AU - Takemoto,Mami AU - Hishikawa,Nozomi AU - Ohta,Yasuyuki AU - Matsukawa,Takashi AU - Ishiura,Hiroyuki AU - Yoshimura,Jun AU - Doi,Koichiro AU - Morishita,Shinichi AU - Tsuji,Shoji AU - Abe,Koji TI - Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype SN - 1878-5883 PY - 2017///0705 KW - Adult KW - Cerebellar Ataxia KW - complications KW - DNA Mutational Analysis KW - Family Health KW - Female KW - Humans KW - Magnetic Resonance Imaging KW - Male KW - Mutation KW - genetics KW - Peroxins KW - Peroxisomal Disorders KW - Phenotype KW - Receptors, Cytoplasmic and Nuclear N1 - Publication Type: Journal Article UR - https://doi.org/10.1016/j.jns.2017.02.058 ER -