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Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
- A. Spada, E. Wilson, D. Lubahn, A. Harding, K. Fischbeck
- Biology, MedicineNature
- 4 July 1991
TLDR
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
- Yingzhang Chen, C. Bennett, P. Chance
- BiologyAmerican journal of human genetics
- 1 June 2004
TLDR
Mutant dynactin in motor neuron disease
- I. Puls, Catherine Jonnakuty, K. Fischbeck
- Biology, ChemistryNature Genetics
- 10 March 2003
TLDR
Toxic Proteins in Neurodegenerative Disease
- J. Taylor, J. Hardy, K. Fischbeck
- BiologyScience
- 14 June 2002
TLDR
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
- A. Antonellis, R. Ellsworth, E. Green
- Biology, MedicineAmerican journal of human genetics
- 1 May 2003
TLDR
Expanded Polyglutamine Protein Forms Nuclear Inclusions and Causes Neural Degeneration in Drosophila
- J. Warrick, H. Paulson, N. Bonini
- BiologyCell
- 12 June 1998
Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3
- H. Paulson, M. K. Perez, R. Pittman
- BiologyNeuron
- 1 August 1997
Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale
- S. Subramony, W. May, T. Ashizawa
- Psychology, MedicineNeurology
- 12 April 2005
TLDR
CREB-binding protein sequestration by expanded polyglutamine.
- A. McCampbell, J. Taylor, K. Fischbeck
- BiologyHuman molecular genetics
- 1 September 2000
TLDR
Regulation of SMN Protein Stability
- Barrington G. Burnett, E. Muñoz, Animesh Tandon, Deborah Y. Kwon, C. Sumner, K. Fischbeck
- BiologyMolecular and Cellular Biology
- 22 December 2008
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