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Adult-onset type II citrullinemia: Current insights and therapy

Adult-onset type II citrullinemia: Current insights and therapy Kiyoshi Hayasaka,1,2 Chikahiko Numakura1 1Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan; 2Department of Pediatrics, Miyukikai Hospital, Kaminoyama, Japan Abstract: Citrin deficiency is a recessively inherited metabolic disorder with age-dependent clinical manifestations. It causes...

Molecular diagnosis and clinical onset of Charcot–Marie–Tooth disease in Japan

, Chikahiko Numakura, Kazuki Kijima, Makiko Hayashi, Taeko Hashimoto & Kiyoshi Hayasaka AuthorsSearch for Akiko Abe in:Nature Research journals • PubMed • Google ScholarSearch for Chikahiko Numakura in:Nature

Neurofilament light chain polypeptide gene mutations in Charcot–Marie–Tooth disease: nonsense mutation probably causes a recessive phenotype

The neurofilament light chain polypeptide (NEFL) forms the major intermediate filament in neurons and axons. NEFL mutation is a cause of axonal or demyelinating forms of dominant Charcot–Marie–Tooth disease (CMT). We investigated NEFL in 223 Japanese CMT patients who were negative for PMP22, MPZ, GJB1, LITAF, EGR2, GDAP1, MTMR2 and PRX in the demyelinating form and negative for...

Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome

Background Recent studies have revealed relative frequency and characteristic phenotype of two major causative factors for Silver-Russell syndrome (SRS), i.e. epimutation of the H19-differentially methylated region (DMR) and uniparental maternal disomy 7 (upd(7)mat), as well as multilocus methylation abnormalities and positive correlation between methylation index and body and...

Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy

Heat shock protein 27 (HSP27) belongs to a family of small heat shock proteins that play significant roles in the cellular stress response and are also involved in the control of protein-protein interactions as chaperons. Mutation in HSP27 has been identified as the cause of axonal Charcot-Marie-Tooth disease (CMT) and distal hereditary motor neuropathy (HMN). Heat shock protein...

Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease

Periaxin (PRX) plays a significant role in the myelination of the peripheral nerve. To date, seven nonsense or frameshift PRX mutations have been reported in six pedigrees with Dejerine-Sottas neuropathy or severe Charcot-Marie-Tooth neuropathy (CMT). We detected a PRX mutation in three patients in the screening of 66 Japanese demyelinating CMT patients who were negative for the...