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Oculomotor Apraxia as an Early Presenting Sign of Juvenile‐Onset Huntington's Disease.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, p. S12, doi. 10.1002/mdc3.13775
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- Article
Accelerated lipofuscinosis and ubiquitination in granulin knockout mice suggests a role for progranulin in successful aging
- Published in:
- 2010
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- Abstract
Neuropathological characterization of progranulin-deficient mice: Accelerated lipofuscin accumulation suggests a role for progranulin in successful aging
- Published in:
- 2009
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- Abstract
P2-172: Wild-type mouse tau transgenic model: Halfway to a complete AD model
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- 2008
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- Abstract
Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 17, p. 3313, doi. 10.1093/hmg/ddx216
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- Publication type:
- Article
A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2.
- Published in:
- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 201, doi. 10.1111/j.1529-8027.2012.00400.x
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- Article