Associated Papers
Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center.
Ko YJ et al.
Neuromuscular Disorders : Nmd, 2023
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.
Ismail S et al.
Gene, 2014
A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene.
Costa C et al.
Neuromuscular Disorders : Nmd, 2013
Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration.
Tachikawa M et al.
The Journal of Biological Chemistry, 2012
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
Yis U et al.
Neuromuscular Disorders : Nmd, 2011
158th ENMC international workshop on congenital muscular dystrophy (Xth international CMD workshop) 8th-10th February 2008 Naarden, The Netherlands.
Muntoni F et al.
Neuromuscular Disorders : Nmd, 2009
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.
Vuillaumier-Barrot S et al.
Neuromuscular Disorders : Nmd, 2009
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.
Cotarelo RP et al.
Clinical Genetics, 2008
Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan.
Xiong H et al.
Biochemical and Biophysical Research Communications, 2006
133rd ENMC International Workshop on Congenital Muscular Dystrophy (IXth International CMD Workshop) 21-23 January 2005, Naarden, The Netherlands.
Muntoni F et al.
Neuromuscular Disorders : Nmd, 2005
Fukutin and alpha-dystroglycanopathies.
Toda T et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2005