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Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.
- L. Sánchez‐Caballero, Benedetta Ruzzenente, +13 authors A. Rötig
- Biology, Medicine
- American journal of human genetics
- 7 July 2016
Mitochondrial complex I deficiency results in a plethora of often severe clinical phenotypes manifesting in early childhood. Here, we report on three complex-I-deficient adult subjects with… Expand
Sudden Death: An Uncommon Occurrence in Dementia with Lewy Bodies.
We present a 75-year-old woman with dementia and parkinsonism who developed severe orthostatic hypotension and eventually died. Autopsy revealed extensive Lewy body formation in the midbrain, limbic… Expand
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
- J. D. de Winter, J. P. Molenaar, +38 authors C. Ottenheijm
- Chemistry, Medicine
- The Journal of clinical investigation
- 18 February 2020
The mechanisms that modulate the kinetics of muscle relaxation are critically important for muscle function. A prime example of the impact of impaired relaxation kinetics is nemaline myopathy caused… Expand
Vaktherapie binnen klinische schematherapie
Dit hoofdstuk1 gaat over de vertaalslag van schematherapie naar vaktherapie, aan de hand van cognitieve, experientiele, gedragsmatige en interpersoonlijke interventiegebieden. Vervolgens wordt… Expand
Effects of aging and sex on voluntary activation and peak relaxation rate of human elbow flexors studied with motor cortical stimulation
Data are equivocal on whether voluntary activation is preserved or decreased in old compared to young adults. Further, data are scant on the effect of age on the rate of muscle relaxation when the… Expand
“Human Stress Syndrome” and the Expanding Spectrum of RYR1-Related Myopathies
- M. Snoeck, S. Treves, J. P. Molenaar, E. J. Kamsteeg, H. Jungbluth, N. Voermans
- Cell Biochemistry and Biophysics
- 1 March 2016
Dear Editor, We read with great interest the hypothesis recently presented by Zhao et al. on the relationship between ‘‘Human Stress Syndrome (HSS)’’ (their summary term for exertional… Expand
The influence of motor cortical stimulus intensity on the relaxation rate of human lower limb muscles
- C. McNeil, Marlous S. Bredius, J. P. Molenaar, S. Gandevia
- Chemistry, Medicine
- Experimental Brain Research
- 17 May 2013
Transcranial magnetic stimulation (TMS) allows an in vivo assessment of the rate of muscle relaxation during a voluntary contraction. It is unknown if this method can be applied to lower limb… Expand
Development of carcinoid tumour in hormonally treated adenocarcinoma of the prostate.
We present the case of an 81-yr-old man with a prostatic adenocarcinoma and a metastatic carcinoid. Simultaneous occurrence of hormonally treated adenocarcinoma of the prostate and a carcinoid has… Expand
Repeatability and reliability of muscle relaxation properties induced by motor cortical stimulation.
- J. P. Molenaar, N. Voermans, L. D. de Jong, D. Stegeman, J. Doorduin, B. V. van Engelen
- Materials Science, Medicine
- Journal of applied physiology
- 1 June 2018
Impaired muscle relaxation is a feature of many neuromuscular disorders. However, few tests are available to quantify muscle relaxation. Transcranial magnetic stimulation (TMS) of the motor cortex… Expand