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Journal of Medical Genetics|September 6, 2005
Collagen VI related muscle disordersA K Lampe, K M D BushbyNeuropathology and Applied Neurobiology|March 27, 2004
Limb-girdle muscular dystrophies--from genetics to molecular pathologyS H Laval, K M D BushbyBrain : a Journal of Neurology|November 19, 2008
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescueD Hicks, A K Lampe, S H Laval, et al.European Journal of Human Genetics : EJHG|October 16, 2003
Characterisation of the dysferlin skeletal muscle promoterR M Foxton, S H Laval, K M D BushbyJournal of Medical Genetics|February 4, 2005
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathyA K Lampe, D M Dunn, A C von Niederhausern, et al.Scottish Medical Journal|March 12, 2010
Paediatric referral and attendance rates for the clinical genetics service in south-east Scotland--a comparison of a regional clinic with satellite clinicsS M Holloway, A K Lampe, W W K LamNeuroreport|March 14, 2003
Investigation of mitochondrial function in hereditary spastic paraparesisC J McDermott, R W Taylor, C Hayes, et al.Archives of Disease in Childhood|October 23, 2002
Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcomaA K Lampe, G Seymour, P W Thompson, et al.Human Mutation|March 28, 2008
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritanceA K Lampe, Y Zou, D Sudano, et al.Neurology|April 2, 2008
A refined diagnostic algorithm for Bethlem myopathyD Hicks, A K Lampe, R Barresi, et al.Pageof 2