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Yuichi Miura

Research Profile

Chemicals & Drugs

Disorders

Physiology

Procedures

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Genes & Molecular Sequences

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Anatomy

Chromosomes, Human, Pair 1

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Publications

TOP 3
Makoto Hiura; Katsumi Torigoe; Osamu Numata; Satoshi Yazaki; Atsushi Kuwabara; Masamichi Matsunaga; Satoshi Hasegawa; Naoki Boku; Haruyoshi Ino; Yasuhiro Indo; Yuichi Miura
Case of congenital indifference to pain with anhidrosis using sympathetic skin response as a useful supportive diagnostic method in the early stage of infancy.
Yasuhiro Indo; S Mardy; Yuichi Miura; A Moosa; Essam A Ismail; Ennio Toscano; Generoso Andria; V Pavone; D L Brown; A Brooks; Fumio Endo; I Matsuda
Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
S Mardy; Yuichi Miura; Fumio Endo; I Matsuda; Yasuhiro Indo
Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.

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All Publications

2002: Makoto Hiura; Katsumi Torigoe; Osamu Numata; Satoshi Yazaki; Atsushi Kuwabara; Masamichi Matsunaga; Satoshi Hasegawa; Naoki Boku; Haruyoshi Ino; Yasuhiro Indo; Yuichi Miura
Case of congenital indifference to pain with anhidrosis using sympathetic skin response as a useful supportive diagnostic method in the early stage of infancy.
Pediatrics international : official journal of the Japan Pediatric Society 2002;44(4):436-9.
2001: Yasuhiro Indo; S Mardy; Yuichi Miura; A Moosa; Essam A Ismail; Ennio Toscano; Generoso Andria; V Pavone; D L Brown; A Brooks; Fumio Endo; I Matsuda
Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
Human mutation 2001;18(4):308-18.
2001: S Mardy; Yuichi Miura; Fumio Endo; I Matsuda; Yasuhiro Indo
Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.
Human molecular genetics 2001;10(3):179-88.
2000: Yuichi Miura; Makoto Hiura; Katsumi Torigoe; Osamu Numata; A Kuwahara; M Matsunaga; S Hasegawa; N Boku; H Ino; S Mardy; Fumio Endo; I Matsuda; Yasuhiro Indo
Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis.
Human genetics 2000;107(3):205-9.
2000: Yuichi Miura; S Mardy; Y Awaya; K Nihei; Fumio Endo; I Matsuda; Yasuhiro Indo
Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families.
Human genetics 2000;106(1):116-24.
1999: S Mardy; Yuichi Miura; Fumio Endo; I Matsuda; László Sztriha; P Frossard; A Moosa; Essam A Ismail; A Macaya; Generoso Andria; Ennio Toscano; W Gibson; G E Graham; Yasuhiro Indo
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.
American journal of human genetics 1999;64(6):1570-9.
1998: M Tsuruta; Hiroshi Mitsubuchi; S Mardy; Yuichi Miura; Y Hayashida; A Kinugasa; Takateru Ishitsu; I Matsuda; Yasuhiro Indo
Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
Journal of human genetics 1998;43(2):91-100.