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List of works by Kazuhiro Kobayashi

A novel mutation in the C2 domain of protein kinase C gamma associated with spinocerebellar ataxia type 14 ⬇️

scientific article published on April 21, 2013

Absence of Post-phosphoryl Modification in Dystroglycanopathy Mouse Models and Wild-type Tissues Expressing Non-laminin Binding Form of α-Dystroglycan ⬇️

scientific article published on January 23, 2012

Detection of the dystroglycanopathy protein, fukutin, using a new panel of site-specific monoclonal antibodies ⬇️

scientific article published on July 6, 2012

Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD) ⬇️

scientific article published on September 1, 1998

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

scientific article

Mislocalization of Fukutin Protein by Disease-causing Missense Mutations Can Be Rescued with Treatments Directed at Folding Amelioration ⬇️

scientific article published on January 24, 2012

Molecular Targeting Therapy for Fukuyama Muscular Dystrophy ⬇️

scientific article published on 01 January 2012

Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1 ⬇️

scientific article published on November 1, 2001

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy ⬇️

scientific article published on October 5, 2011

Post-translational Maturation of Dystroglycan Is Necessary for Pikachurin Binding and Ribbon Synaptic Localization ⬇️

scientific article published on August 3, 2010

Prenatal diagnosis of Fukuyama-type congenital muscular dystrophy by microsatellite analysis ⬇️

scientific article published on February 1, 1998

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