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Article / Letter to editor
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2013
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Leiden University Medical Center (LUMC)
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Medicine / Leiden University Medical Centre (LUMC)
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Ginjaar, I.
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Kooi, A. van der
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Kriek, M.
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Niks, E.H.
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Pol, L. van der
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Visser, M. de
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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
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
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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
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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
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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
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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