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(1 - 6 of 6)
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients
Dam, L. ten; Frankhuizen, W.S.; Linssen, W.H.J.P.; Straathof, C.S.; Niks, E.H.; Faber, K.; ... ; Ginjaar, I. 2019
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients
Article / Letter to editor
metadata only
Dutch founder mutation in MICU1 found in seven patients with a LGMD-like phenotype and cognitive impairment
Ginjaar, I.; Niks, E.; Pol, L. van der; Kooi, A. van der; Straathof, C.; Duyvenvoorde, H. van; Kriek, M. 2016
Dutch founder mutation in MICU1 found in seven patients with a LGMD-like phenotype and cognitive impairment
Article / Letter to editor
metadata only
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
Logan, C.V.; Szabadkai, G.; Sharpe, J.A.; Parry, D.A.; Torelli, S.; Childs, A.M.; ... ; UK10K Consortium 2014
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
Article / Letter to editor
metadata only
Brain natriuretic peptide is not predictive of dilated cardiomyopathy in Becker and Duchenne muscular dystrophy patients and carriers
Westrum, S.S. van; Dekker, L.; Haan, R. de; Endert, E.; Ginjaar, I.; Visser, M. de; Kooi, A. van der 2013
Brain natriuretic peptide is not predictive of dilated cardiomyopathy in Becker and Duchenne muscular dystrophy patients and carriers
Article / Letter to editor
metadata only
Novel missense mutations in the glycine receptor beta subunit gene (GLRB) in startle disease
James, V.M.; Bode, A.; Chung, S.K.; Gill, J.L.; Nielsen, M.; Cowan, F.M.; ... ; Harvey, R.J. 2013
Novel missense mutations in the glycine receptor beta subunit gene (GLRB) in startle disease
Article / Letter to editor
metadata only
Inter- and intra muscle fat fraction variability in DMD patients
Wokke, B.; Bergen, J. van den; Bos, C.; Webb, A.; Ginjaar, I.; Aartsma-Rus, A.; ... ; Kan, H. 2011
Inter- and intra muscle fat fraction variability in DMD patients
Article / Letter to editor
metadata only