ExLibris header image
SFX Logo
Title: Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements
Source:

Proceedings of the National Academy of Sciences of the United States of America [0027-8424] D'Souza, I yr:1999


Collapse list of basic services Basic
Full text
Full text available via PubMed Central
GO
Document delivery
Request document via Library/Bibliothek GO
Users interested in this article also expressed an interest in the following:
1. Liem, T. "Abnormal microtubule packing in processes of SF9 cells expressing the FTDP-17 V337M tau mutation." FEBS letters 455.3 (1999): 262-266. Link to Full Text for this item Link to SFX for this item
2. Wszołek, Z. "Frontotemporal dementia and parkinsonism linked to chromosome 17." Folia Neuropathologica 43.4 (2005): 258-270. Link to SFX for this item
3. Nakamura, A.. "Follow-up of three patients with a large in-frame deletion of exons 45-55 in the Duchenne muscular dystrophy (DMD) gene." Journal of clinical neuroscience 15.7 (2008): 757-763. Link to SFX for this item
4. Gendron, T. "The role of tau in neurodegeneration." Molecular Neurodegeneration 4.1 (2009): 13-13. Link to Full Text for this item Link to SFX for this item
5. Strmecki, L. "De novo mutation in DMD gene in a patient with combined hemophilia A and Duchenne muscular dystrophy." International journal of hematology 99.2 (2013): 184-7. Link to SFX for this item
6. Maki, N. "A nonsense mutation (R220X) in the alpha-galactosidase A gene causes typical Fabry disease in both genders." Clinical nephrology 61.3 (2004): 185-190. Link to SFX for this item
7. Gurvich, O.L. L. "DMD pseudoexon mutations: Splicing efficiency, phenotype, and potential therapy." Annals of neurology 63.1 (2008): 81-89. Link to Full Text for this item Link to SFX for this item
8. Aartsma-Rus, A. "Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule." Muscle & nerve 34.2 (2006): 135-144. Link to Full Text for this item Link to SFX for this item
9. Freund, Aline A. "Duchenne and Becker muscular dystrophy: a molecular and immunohistochemical approach." Arquivos de neuro-psiquiatria 65.1 (2007): 73-6. Link to Full Text for this item Link to SFX for this item
10. Akanchha Kesari, Laura N. Pirra, Lakshmi Bremadesa, A. "Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule." Human mutation 29.5 (2008): 728-37. Link to Full Text for this item Link to SFX for this item
11. Wang, J. "Microtubule-associated protein tau in development, degeneration and protection of neurons." Progress in Neurobiology 85.2 (2008): 148-175. Link to SFX for this item
12. Muntoni, F. "Dystrophin and mutations: one gene, several proteins, multiple phenotypes." Lancet. Neurology 2.12 (2004): 731-40. Link to SFX for this item
13. Wang, Y. "Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy." Molecular genetics and genomics 289.5 (2014): 1013-21. Link to Full Text for this item Link to SFX for this item
14. MEANEY, C. "A NONSENSE MUTATION (R220X) IN THE ALPHA-GALACTOSIDASE A GENE DETECTED IN A FEMALE CARRIER OF FABRY-DISEASE." Human molecular genetics 3.6 (1994): 1019-1020. Link to Full Text for this item Link to SFX for this item
15. McCulloch, M C C. "Phenotypic analysis of mice deficient in the major myelin protein MOBP, and evidence for a novel Mobp isoform." GLIA 39.3 (2002): 256-67. Link to Full Text for this item Link to SFX for this item
16. Robert, M. "Tau and tauopathies." Neurology, India 55.1 (2007): 11-6. Link to Full Text for this item Link to SFX for this item
17. Koenig, M. "The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion." American journal of human genetics 45.4 (1989): 498-506. Link to Full Text for this item Link to SFX for this item
18. Butterfield, D. "Pin1 in Alzheimer's disease." Journal of neurochemistry 98.6 (2006): 1697-706. Link to Full Text for this item Link to SFX for this item
19. Cossu, Giulio and a. "New therapies for Duchenne muscular dystrophy: challenges, prospects and clinical trials." Trends in molecular medicine 13.12 (2007): 520-526. Link to SFX for this item
20. Gasparini, L. "Frontotemporal dementia with tau pathology." Neuro-degenerative diseases 4.2-3 (2007): 236-53. Link to SFX for this item
View More...
View Less...
Select All Clear All

Expand list of advanced services Advanced