Associated Papers
Clinical and genetic determinants of survival in amyotrophic lateral sclerosis patients from North India.
Khurana S et al.
Brain Communications, 2026
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
The spectrum of hereditary neuromuscular disorders in the Pakistani population.
Akbar F et al.
American Journal of Medical Genetics. Part A, 2023
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene.
Erbe LS et al.
International Journal of Molecular Sciences, 2023
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
Johnson K et al.
Skeletal Muscle, 2018
Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.
Kanagawa M et al.
Cell Reports, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.
Fiorillo 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
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.
Chang W et al.
Prenatal Diagnosis, 2009
Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement.
Saredi S et al.
Muscle & Nerve, 2009
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
Mercuri E et al.
Neurology, 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
Muscular dystrophies due to defective glycosylation of dystroglycan.
Muntoni F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Godfrey C et al.
Brain : a Journal of Neurology, 2007
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.
Godfrey C et al.
Annals of Neurology, 2006
Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement.
Ceyhan-Birsoy O et al.
Journal of Neuromuscular Diseases, 0