Mari Urano
Shinjuku, 1628666, Japan
Last Updated: 09/26/2026
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Found 8 publications
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.
Journal: Orphanet journal of rare diseases
Published: March 19, 2024
Epidemiological investigation of spinal muscular atrophy in Japan.
Journal: Brain & development
Published: February 12, 2021
Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation.
Journal: Journal of the American College of Cardiology
Published: February 10, 2017
Relationships between long-term observations of motor milestones and genotype analysis results in childhood-onset Japanese spinal muscular atrophy patients.
Journal: Brain & development
Published: November 16, 2016
Genetic Counseling for Couples Seeking Noninvasive Prenatal Testing in Japan: Experiences of Pregnant Women and their Partners.
Journal: Journal of genetic counseling
Published: February 20, 2016
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.
Journal: Journal of human genetics
Published: February 05, 2016
Corticosteroid therapy for duchenne muscular dystrophy: improvement of psychomotor function.
Journal: Pediatric neurology
Published: March 20, 2013
Charcot-Marie-Tooth disease type 4C in Japan: report of a case.
Journal: Muscle & nerve
Published: July 28, 2012
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Last Updated: 09/26/2026