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- Publications
- Influence
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
- A. L. Spada, E. Wilson, D. Lubahn, A. Harding, K. Fischbeck
- Biology, Medicine
- Nature
- 4 July 1991
X-LINKED spinal and bulbar muscular atrophy (Kennedy's disease) is an adult-onset form of motorneuron disease which may be associated with signs of androgen insensitivity. We have now investigated… Expand
Mutant dynactin in motor neuron disease
- I. Puls, Catherine Jonnakuty, +10 authors K. Fischbeck
- Biology, Medicine
- Nature Genetics
- 10 March 2003
Impaired axonal transport in motor neurons has been proposed as a mechanism for neuronal degeneration in motor neuron disease. Here we show linkage of a lower motor neuron disease to a region of 4 Mb… Expand
Toxic Proteins in Neurodegenerative Disease
- J. Taylor, J. Hardy, K. Fischbeck
- Biology, Medicine
- Science
- 14 June 2002
A broad range of neurodegenerative disorders is characterized by neuronal damage that may be caused by toxic, aggregation-prone proteins. As genes are identified for these disorders and cell culture… Expand
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
- A. Antonellis, R. Ellsworth, +14 authors E. Green
- Biology, Medicine
- American journal of human genetics
- 1 May 2003
Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are axonal peripheral neuropathies inherited in an autosomal dominant fashion. Our previous genetic and… Expand
Expanded Polyglutamine Protein Forms Nuclear Inclusions and Causes Neural Degeneration in Drosophila
- J. Warrick, H. Paulson, +4 authors N. Bonini
- Biology, Medicine
- Cell
- 12 June 1998
Spinocerebellar ataxia type 3 (SCA3/MJD) is one of at least eight human neurodegenerative diseases caused by glutamine-repeat expansion. We have recreated glutamine-repeat disease in Drosophila using… Expand
Regulation of SMN Protein Stability
- B. Burnett, E. Muñoz, A. Tandon, D. Kwon, C. Sumner, K. Fischbeck
- Biology, Medicine
- Molecular and Cellular Biology
- 22 December 2008
ABSTRACT Spinal muscular atrophy (SMA) is caused by mutations of the survival of motor neuron (SMN1) gene and deficiency of full-length SMN protein (FL-SMN). All SMA patients retain one or more… Expand
Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale
- S. Subramony, W. May, +6 authors T. Ashizawa
- Psychology, Medicine
- Neurology
- 12 April 2005
Measuring the severity of neurologic dysfunction in patients with inherited ataxias, including Friedreich ataxia (FA), is difficult because of the variable rate of progression, the variable age at… Expand
CREB-binding protein sequestration by expanded polyglutamine.
- A. McCampbell, J. Taylor, +8 authors K. Fischbeck
- Biology, Medicine
- Human molecular genetics
- 1 September 2000
Spinal and bulbar muscular atrophy (SBMA) is one of eight inherited neurodegenerative diseases known to be caused by CAG repeat expansion. The expansion results in an expanded polyglutamine tract,… Expand
Clinical features of spinal and bulbar muscular atrophy
- L. E. Rhodes, B. K. Freeman, +9 authors K. Fischbeck
- Medicine
- Brain : a journal of neurology
- 21 October 2009
Spinal and bulbar muscular atrophy is an X-linked motor neuron disease caused by a CAG repeat expansion in the androgen receptor gene. To characterize the natural history and define outcome measures… Expand
Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3
- H. Paulson, M. K. Perez, +7 authors R. Pittman
- Biology, Medicine
- Neuron
- 1 August 1997
The mechanism of neurodegeneration in CAG/polyglutamine repeat expansion diseases is unknown but is thought to occur at the protein level. Here, in studies of spinocerebellar ataxia type 3, also… Expand