View Author
lmnagt mutation -/- lmnagt -/- mice lamin patient analysis mitochondrial ataxia protein tissue cerebellar ataxia muscle mouse +/- cerebellar ficiency genet leigh syndrome leigh cause defect syndrome post-natal family ds i t lmnagt +/- assembly development activity cabc 1 differentiation coenzyme q 10 c .1042c i assembly blood 20orf i i c lmnagt -/- mouse c 20orf gene level disease heart expression hypertrophy atrophy cabc 1 gene department function nonsense region c 20orf lmnagt +/- mice article t mutation model study myocyte genotype coenzyme adipose result weight tibia length pp 15 subcutaneous adipose tissue patient iv 7 netherland ventricle a-type lmnagt -/- vs nucleus lmnagt -/- .1042c subcutaneou cerebellar atrophy post-natal development homozygosity coq 10 staining
3 Most Recent Publications
|
Post-natal myogenic and adipogenic developmental:Defects and metabolic impairment upon loss of a-type lamins
(Article)
Kubben, N. Voncken, J.W. Calis, C. Houten, S.M. Misteli, T. Pinto, Y.M. Koning, G.A. Weeghel, M. van Hoogenhof, M.M.G. van den Gijbels, M. Erk, A. van Schoonderwoerd, K. Bosch, B. van den Dahlmans, V. |
2011-07-18
|
|
Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy
(Article)
Gerards, M. Bosch, B. van den Calis, C. Schoonderwoerd, K. Engelen, K. van |
2010-08-01
|
|
Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome
(Article)
Gerards, M. Sluiter, W. Hendrickx, A. Coo, I.F.M. de Smeets, H.J. Bosch, B.J. van den Wit, L.E.A. de Calis, C. Frentzen, M. Akbari, H. Schoonderwoerd, K. Scholte, H.R. Jongbloed, R.J. |
2010-08-01
|
