Sonja Endruhn

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BACKGROUND In neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), CSF biomarkers are increasingly studied to evaluate their relevance for differential diagnosis, disease progression, and understanding of pathophysiologic processes. OBJECTIVE To identify a biomarker profile of neuronal and glial CSF proteins to discriminate ALS from(More)
Amyotrophic lateral sclerosis (ALS) is a devastating disorder of the central nervous system that leads to progressive loss of upper and lower motor neurons. Most cases are sporadic and of unknown aetiology. In this study, we screened 72 patients with sporadic ALS for the presence of DNA copy number variations, in order to identify novel candidate disease(More)
OBJECTIVE Myocardial involvement in motor neuron diseases (MND) is an uncommon feature. In amyotrophic lateral sclerosis (ALS) abnormalities of the autonomic nervous system affecting cardiac function have been described, for the hereditary spastic paraplegias (HSP) comparable manifestations are unknown. This study observed ALS and HSP patients with(More)
multiple ligation probe amplification or other systems to determine copy number variation, and analysis of putative genome regulatory elements, might be required. Furthermore, our data indicate that severe Cav-3 deficiency may also result from CAV-3 mutations that act through either loss-offunction or gain-of-function mechanisms. Accordingly,(More)
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