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Publications by Terumi Murakami
A Novel POMT2 Mutation Causes Mild Congenital Muscular Dystrophy With Normal Brain MRI
Brain and Development
Child Health
Developmental Neuroscience
Perinatology
Neurology
Medicine
Pediatrics
Limb-Girdle Muscular Dystrophy Due to Emerin Gene Mutations
Archives of Neurology
Related publications
New POMT2 Mutations Causing Congenital Muscular Dystrophy: Identification of a Founder Mutation
Neurology
Neurology
Congenital Muscular Dystrophy: From Muscle to Brain
Italian Journal of Pediatrics
Child Health
Pediatrics
Perinatology
Congenital Muscular Dystrophy
The Internet Journal of Radiology
Congenital Muscular Dystrophy With Cerebellar Involvement
Identification of Two Novel LAMA2 Mutations in a Chinese Patient With Congenital Muscular Dystrophy
Frontiers in Genetics
Genetics
Molecular Medicine
Exome Sequencing Identifies a Novel SMCHD1 Mutation in Facioscapulohumeral Muscular Dystrophy 2
Neuromuscular Disorders
Child Health
Neurology
Pediatrics
Perinatology
Genetics
A Homozygous COL6A2 Intron Mutation Causes In-Frame Triple-Helical Deletion and Nonsense-Mediated mRNA Decay in a Patient With Ullrich Congenital Muscular Dystrophy
Human Genetics
Genetics
Novel Synonymous Substitution in POMGNT1 Promotes Exon Skipping in a Patient With Congenital Muscular Dystrophy
Journal of Human Genetics
Genetics
Moderately Progressive Ullrich Congenital Muscular Dystrophy
Jornal de Pediatria
Child Health
Pediatrics
Perinatology
