Human skeletal development and correct bone, cartilage, joint and muscle function are determined by complex interactions between developmental signalling pathways. Genetic and acquired disorders affecting these tissues are common. The group’s research aims to understand the molecular basis of these disorders to improve diagnosis and genetic counselling, identify new therapeutic targets and test new treatments to ultimately improve the quality of life for children with these debilitating conditions
Human skeletal development and correct bone, cartilage, joint and muscle function are determined by complex interactions between developmental signalling pathways. Genetic and acquired disorders affecting these tissues are common. The group’s...
Human skeletal development and correct bone, cartilage, joint and muscle function are determined by complex interactions between developmental signalling pathways. Genetic and acquired disorders affecting these tissues are common. The group’s research aims to understand the molecular basis of these disorders to improve diagnosis and genetic counselling, identify new therapeutic targets and test new treatments to ultimately improve the quality of life for children with these debilitating conditions
Top Publications
Woodman, K, Coles, C, Toulson, S, Gibbs, E, Knight, M, McDonagh, M, Crosbie-Watson, R, Lamandé, S, White, J.
Benfotiamine reduces pathology and improves muscle function in mdx mice.
2018
view publication
Foley, AR, Donkervoort, S, Bolduc, V, Hu, Y, Cummings, B, Lek, M, Sarkozy, A, Jimenez-Mallebrera, C, Butterfield, R, Lamande, S, et al.
P.25 A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophy.
Neuromuscular Disorders
27:
s106
2017
view publication
Bolduc, V, Foley, A, Donkervoort, S, Hu, Y, Cummings, B, Lek, M, Sarathy, A, Sizov, K, Degefa, H, Wagener, R, et al.
NG.O.14 A common dominant-negative COL6A1 pseudo-exon insertion is skippable using splice-modulating oligonucleotides.
Neuromuscular Disorders
27:
s177
2017
view publication
Lamandé, SR, Cameron, TL, Savarirayan, R, Bateman, JF.
Molecular Genetics of the Cartilage Collagenopathies.
99 -133
2017
view publication
Woodman, KG, Coles, CA, Lamandé, SR, White, JD.
Nutraceuticals and Their Potential to Treat Duchenne Muscular Dystrophy: Separating the Credible from the Conjecture..
Nutrients
8(11)
:
2016
view publication