K. Fischbeck

Publications327
h-index77
Citations25,786
Highly Influential Citations1,000
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Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
TLDR
It is concluded that enlargement of the CAG repeat in the androgen receptor gene is probably the cause of X-LINKED spinal and bulbar muscular atrophy.
View on Springer
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
TLDR
Observations of ALS4 suggest that mutations in SETX may cause neuronal degeneration through dysfunction of the helicase activity or other steps in RNA processing.
View on PubMed
Mutant dynactin in motor neuron disease
TLDR
The results show that dysfunction of dynactin-mediated transport can lead to human motor neuron disease.
View on Springer
Toxic Proteins in Neurodegenerative Disease
TLDR
Increased understanding of the cellular mechanisms for disposal of abnormal proteins and of the effects of toxic protein accumulation on neuronal survival may allow the development of rational, effective treatment for neurodegenerative disorders.
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Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
TLDR
The identification of four disease-associated missense mutations in the glycyl tRNA synthetase gene in families with CMT2D and dSMA-V is reported, which makes genes that encode these enzymes relevant candidates for other inherited neuropathies and motor neuron diseases.
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Expanded Polyglutamine Protein Forms Nuclear Inclusions and Causes Neural Degeneration in Drosophila
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Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3
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Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale
TLDR
The authors discuss the problems related to rating scales in the ataxias, report a neurologic rating scale for FA, and demonstrate acceptable interrater reliability of the instrument.
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CREB-binding protein sequestration by expanded polyglutamine.
TLDR
Evidence is presented that CREB-binding protein (CBP), a transcriptional co-activator that orchestrates nuclear response to a variety of cell signaling cascades, is incorporated into nuclear inclusions formed by polyglutamine-containing proteins in cultured cells, transgenic mice and tissue from patients with SBMA.
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Regulation of SMN Protein Stability
TLDR
Recruitment of SMN into large macromolecular complexes as well as increased association with several Gemin proteins was regulated in part by protein kinase A, indicating that SMN protein stability is modulated by complex formation.
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