Publications by authors named "Mari Urano"

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Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: a rationale for prompt treatment initiation to prevent SMA development.
Noriko Otsuki, Tamaki Kato, Mamoru Yokomura, Mari Urano, Mari Matsuo

Orphanet J Rare Dis· February 2025

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Epidemiological investigation of spinal muscular atrophy in Japan.
Mayuri Ito, Akemi Yamauchi, Mari Urano, Tamaki Kato, Mari Matsuo

Brain Dev· January 2022

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Relationships between long-term observations of motor milestones and genotype analysis results in childhood-onset Japanese spinal muscular atrophy patients.
Kaori Kaneko, Reiko Arakawa, Mari Urano, Ryoko Aoki, Kayoko Saito

Brain Dev· October 2017

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Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation.
Akiko Seki, Taisuke Ishikawa, Xavier Daumy, Hiroyuki Mishima, Julien Barc, Mari Urano

J Am Coll Cardiol· July 2017

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Genetic Counseling for Couples Seeking Noninvasive Prenatal Testing in Japan: Experiences of Pregnant Women and their Partners.
Motoko Watanabe, Mari Matsuo, Masaki Ogawa, Toshitaka Uchiyama, Satoru Shimizu, Mari Urano

J Genet Couns· June 2017

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Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.
Yuri Kitamura, Eri Kondo, Mari Urano, Ryoko Aoki, Kayoko Saito

J Hum Genet· November 2016

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Corticosteroid therapy for duchenne muscular dystrophy: improvement of psychomotor function.
Yuko Sato, Akemi Yamauchi, Mari Urano, Eri Kondo, Kayoko Saito

Pediatr Neurol· January 2014

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MLL2 and KDM6A mutations in patients with Kabuki syndrome.
Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, Seiji Mizuno, Tsutomu Ogata, Mari Urano

Am J Med Genet A· September 2013

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Charcot-Marie-Tooth disease type 4C in Japan: report of a case.
Masahiro Iguchi, Akihiro Hashiguchi, Eiichi Ito, Kunio Toda, Mari Urano

Muscle Nerve· February 2013

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A case of Fukuyama congenital muscular dystrophy associated with negative electroretinograms.
Hiroyuki Kondo, Kayoko Saito, Mari Urano, Yukiko Sagara, Eiichi Uchio

Jpn J Ophthalmol· November 2010

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[Gene mutation and genetic counseling].
Mari Matsuo, Mari Urano, Kayoko Saito

Nihon Rinsho· June 2009

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