Margot G. E. te Riele

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Spinal muscular atrophy (SMA) is a heterogeneous group of neuromuscular disorders caused by degeneration of lower motor neurons. Although functional loss of SMN1 is associated with autosomal-recessive childhood SMA, the genetic cause for most families affected by dominantly inherited SMA is unknown. Here, we identified pathogenic variants in bicaudal D(More)
Myalgia, fatigue, and exercise intolerance are cause for referral to a neurologist. However, the diagnostic value of history, neurological examination, and ancillary investigations in patients with these symptoms is unknown. This study provides a sound footing for deciding which ancillary investigations should be conducted. A prospective observational study(More)
BACKGROUND Negative myoclonus is characterized by a brief sudden loss of muscle activity, and can be caused by a variety of acquired factors and epilepsy syndromes. PHENOMENOLOGY SHOWN We show a clear video example of a patient with an extensive negative myoclonus that was induced by ciprofloxacin. EDUCATIONAL VALUE Several neurotoxic effects have been(More)
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