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Neuropediatrics|March 17, 2006
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiencyB Assmann, G Göhlich, M Baethmann, et al.Magnetic Resonance in Medicine|October 25, 2001
beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urineS H Moolenaar, G Göhlich-Ratmann, U F Engelke, et al.Neurology|December 29, 2005
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 geneH Jungbluth, H Zhou, L Hartley, et al.Nucleosides, Nucleotides & Nucleic Acids|October 27, 2006
Genetic analysis of the first 4 patients with beta-ureidopropionase deficiencyA B P van Kuilenburg, R Meinsma, B Assman, et al.Neuromuscular Disorders : NMD|December 11, 2012
Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patientsL Servais, N Deconinck, A Moraux, et al.Neurology|January 12, 2005
An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizuresR Straussberg, L Basel-Vanagaite, S Kivity, et al.Genome Research|December 10, 1998
Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14qC Paternotte, D Rudnicki, C Fizames, et al.Neurology|December 15, 2004
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)J R M Oliveira, E Spiteri, M J Sobrido, et al.American Journal of Human Genetics|March 31, 2000
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophyM Raffaele Di Barletta, E Ricci, G Galluzzi, et al.Journal of Medical Genetics|June 1, 1997
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)A Carrié, F Piccolo, F Leturcq, et al.Pageof 18