Search Results - "Kneppers, A.L.J."

Duplications in the DMD gene by White, S.J., Aartsma-Rus, A., Flanigan, K.M., Weiss, R.B., Kneppers, A.L.J., Lalic, T., Janson, A.A.M., Ginjaar, H.B., Breuning, M.H., den Dunnen, J.T.

“…The detection of duplications in Duchenne (DMD)/Becker Muscular Dystrophy (BMD) has long been a neglected issue. However, recent technological advancements…”
Get full text

Duplications in theDMD gene by White, S.J., Aartsma-Rus, A., Flanigan, K.M., Weiss, R.B., Kneppers, A.L.J., Lalic, T., Janson, A.A.M., Ginjaar, H.B., Breuning, M.H., den Dunnen, J.T.

Get full text

Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures by Helderman-van den Enden, A.T.J.M., Ginjaar, H.B., Kneppers, A.L.J., Bakker, E., Breuning, M.H., de Visser, M.

“…We describe a patient with somatic mosaicism of a point mutation in the dystrophin gene causing benign muscular dystrophy with an unusual asymmetrical…”
Get full text

Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk by PASSOS-BUENO, M. R, BAKKER, E, KNEPPERS, A. L. J, TAKATA, R. I, RAPAPORT, DEN DUNNEN, J. T, ZATZ, M, VAN OMMEN, G. J. B

“…In about 65% of the cases of Duchenne muscular dystrophy (DMD) a partial gene deletion or duplication in the dystrophin gene can be detected. These mutations…”
Get full text

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy by Ginjaar, H.B., vd Kooi, A., Ceelie, H., Kneppers, A.L.J., Barth, P.G., Busch, H.F.M., Wokke, J.H.J., Kerkhoff, H., Broere, D., Anderson, L.V.B., Bönnemann, C.G., Jeanpierre, M., Bakker, E., de Visser, M., v Ommen, G.J.B.

Get full text