Publications by authors named "Adrian L Knorz"

Article Synopsis
  • Mutations in transcription factors related to congenital central hypoventilation disorders lead to issues like severe hypoventilation and decreased sensitivity to high carbon dioxide levels in the blood.
  • The study identifies specific groups of medullary neurons, called dB2 neurons, that play key roles in various respiratory functions such as controlling tidal volumes and the body's response to elevated carbon dioxide.
  • The research highlights the importance of these dB2 neurons for proper neonatal breathing and survival, showing that dysfunction in these neurons may result in respiratory problems associated with congenital hypoventilation.
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In contrast to inherited transthyretin amyloidosis (A-ATTRv), neuropathy is not a classic leading symptom of wild type transthyretin amyloidosis (A-ATTRwt). However, neurological symptoms are increasingly relevant in A-ATTRwt as well. To better understand the role of neurological symptoms in A-ATTRwt, A-ATTRwt patients were prospectively characterized at Amyloidosis Center Charité Berlin (ACCB) between 2018 and 2023 using detailed neurological examination, quality of life questionnaires, and analysis of age- and BMI-adapted serum neurofilament light chain (NFL) levels.

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Importance: Alzheimer's disease (AD) is a complex neurodegenerative disorder and the most prevalent cause of dementia. In spite of the urgent need for more effective AD drug therapy strategies, evidence of the efficacy of combination therapy with existing drugs remains unclear.

Objective: To assess the efficacy of combined drug therapy on cognition and progress in patients with AD in comparison to single agent drug therapy.

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