Found: 20
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Timing of the absence of FMR1 expression in full mutation chorionic villi.
- Published in:
- Human Genetics, 2002, v. 110, n. 6, p. 601, doi. 10.1007/s00439-002-0723-5
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- Publication type:
- Article
HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0694-6
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- Publication type:
- Article
A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease.
- Published in:
- 2002
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- Publication type:
- journal article
Proteomic Analysis of Exosomes Isolated from Human Malignant Pleural Effusions.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2004, v. 31, n. 1, p. 114, doi. 10.1165/rcmb.2003-0238OC
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- Publication type:
- Article
Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0677-7
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- Publication type:
- Article
FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome.
- Published in:
- Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0162-2
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- Publication type:
- Article
A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.
- Published in:
- Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0166-y
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- Publication type:
- Article
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.
- Published in:
- Acta Neuropathologica, 2011, v. 122, n. 4, p. 467, doi. 10.1007/s00401-011-0860-9
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- Publication type:
- Article
Characterisation of Fmrp in zebrafish: evolutionary dynamics of thefmr1gene.
- Published in:
- Development Genes & Evolution, 2005, v. 215, n. 4, p. 198, doi. 10.1007/s00427-005-0466-0
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- Publication type:
- Article
Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 11, p. 2133, doi. 10.1093/hmg/ddx108
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- Publication type:
- Article
Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4948, doi. 10.1093/hmg/ddv216
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- Publication type:
- Article
Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation–differentiation balance early in life and optic nerve degeneration at old age.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 5, p. 1320, doi. 10.1093/hmg/ddt522
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- Publication type:
- Article
Dopaminergic Neuronal Loss and Dopamine-Dependent Locomotor Defects in Fbxo7-Deficient Zebrafish.
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- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0048911
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- Publication type:
- Article
Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15).
- Published in:
- PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0016983
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- Publication type:
- Article
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
- Published in:
- Nature Genetics, 2011, v. 43, n. 2, p. 121, doi. 10.1038/ng.744
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- Publication type:
- Article
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 9, p. 949, doi. 10.1093/hmg/ddg114
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- Publication type:
- Article
PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.
- Published in:
- 2014
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- Publication type:
- journal article
PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1361
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- Publication type:
- Article
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome.
- Published in:
- Journal of Neurochemistry, 2008, v. 107, n. 6, p. 1671, doi. 10.1111/j.1471-4159.2008.05747.x
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- Publication type:
- Article
Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 17, p. 1632, doi. 10.1093/hmg/ddab143
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- Publication type:
- Article