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Timothy M Cox

Showing results (41-50 of 117) with videos related to

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Journal of Lipid Research|April 6, 2017
Alterations in endo-lysosomal function induce similar hepatic lipid profiles in rodent models of drug-induced phospholipidosis and Sandhoff diseaseEmmanuelle Lecommandeur, David Baker, Timothy M Cox, et al.
Human Molecular Genetics|June 5, 2003
Typical type 2 diabetes mellitus and HFE gene mutations: a population-based case - control studyDavid J Halsall, Ian McFarlane, Jian'an Luan, et al.
Journal of Child Neurology|July 9, 2016
Metachromatic Leukodystrophy: An Assessment of Disease BurdenFlorian S Eichler, Timothy M Cox, Eric Crombez, et al.
Ophthalmology|April 5, 2011
Latency vs saccadic parameters in lysosomal trialsJonathan C P Roos, Robin H Lachmann, Roger H Carpenter, et al.
Developmental Medicine and Child Neurology|November 26, 2011
GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewedNicholas J Smith, Anne Marie Winstone, Lesley Stellitano, et al.
Lancet (London, England)|July 26, 2005
King George III and porphyria: an elemental hypothesis and investigationTimothy M Cox, Nicola Jack, Simon Lofthouse, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 21, 2025
Gaucher disease type 3: Classification of the chronic neuronopathic variant informed by genotype in a phenotypically diverse cohortAimée Donald, Simon A Jones, Derralynn A Hughes, et al.
Journal of Inherited Metabolic Disease|November 17, 2010
Haematopoietic stem cell transplantation does not retard disease progression in the psycho-cognitive variant of late-onset metachromatic leukodystrophyNicholas J Smith, Robert E Marcus, Barbara J Sahakian, et al.
Molecular Genetics and Metabolism|August 21, 2017
Heterogeneity in a large pedigree with Danon disease: Implications for pathogenesis and managementJonathan C P Roos, Matthew J Daniels, Elizabeth Morris, et al.
Human Molecular Genetics|September 24, 2013
Reversibility of neuropathology in Tay-Sachs-related diseasesMaría-Begoña Cachón-González, Susan Z Wang, Robin Ziegler, et al.
Pageof 12

Showing results (41-50 of 117) with videos related to

Sort By:
Pageof 12
Journal of Lipid Research|April 6, 2017
Alterations in endo-lysosomal function induce similar hepatic lipid profiles in rodent models of drug-induced phospholipidosis and Sandhoff diseaseEmmanuelle Lecommandeur, David Baker, Timothy M Cox, et al.
Human Molecular Genetics|June 5, 2003
Typical type 2 diabetes mellitus and HFE gene mutations: a population-based case - control studyDavid J Halsall, Ian McFarlane, Jian'an Luan, et al.
Journal of Child Neurology|July 9, 2016
Metachromatic Leukodystrophy: An Assessment of Disease BurdenFlorian S Eichler, Timothy M Cox, Eric Crombez, et al.
Ophthalmology|April 5, 2011
Latency vs saccadic parameters in lysosomal trialsJonathan C P Roos, Robin H Lachmann, Roger H Carpenter, et al.
Developmental Medicine and Child Neurology|November 26, 2011
GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewedNicholas J Smith, Anne Marie Winstone, Lesley Stellitano, et al.
Lancet (London, England)|July 26, 2005
King George III and porphyria: an elemental hypothesis and investigationTimothy M Cox, Nicola Jack, Simon Lofthouse, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 21, 2025
Gaucher disease type 3: Classification of the chronic neuronopathic variant informed by genotype in a phenotypically diverse cohortAimée Donald, Simon A Jones, Derralynn A Hughes, et al.
Journal of Inherited Metabolic Disease|November 17, 2010
Haematopoietic stem cell transplantation does not retard disease progression in the psycho-cognitive variant of late-onset metachromatic leukodystrophyNicholas J Smith, Robert E Marcus, Barbara J Sahakian, et al.
Molecular Genetics and Metabolism|August 21, 2017
Heterogeneity in a large pedigree with Danon disease: Implications for pathogenesis and managementJonathan C P Roos, Matthew J Daniels, Elizabeth Morris, et al.
Human Molecular Genetics|September 24, 2013
Reversibility of neuropathology in Tay-Sachs-related diseasesMaría-Begoña Cachón-González, Susan Z Wang, Robin Ziegler, et al.
Pageof 12