PAPER Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, Warren ST
SEARCH RESULTS
329940 RESULTS
MAPT S305N
MUTATIONS MAPT 44087767 GRCh37/hg19 rs63751165 G A 123802G> A 120981G> A Exon 10 Point, Missense Coding Stem-loop instability leading to alterations in the ratio of 3-repeat (3R) tau to 4-repeat (4R) tau. Reduced lysosomal degradation of tau. Numerous neurofi
PAPER Kobayashi K, Hayashi M, Kidani T, Nakano H, Miyazu K, Ujike H, Kuroda S, Koshino Y
Pick's disease in 2 brothers with S305N mutation: note in supplement to an earlier communication.
Clin Neuropathol. 2002 Jul-Aug;21(4):191-3. PubMed: 12143928MAPT S305S
MUTATIONS MAPT 44087768 GRCh37/hg19 rs63750568 T C g.123803T> C g.120982T> C Exon 10 Point, Silent Coding This silent mutation increases the splicing in of exon 10 and results in overproduction of tau isoforms containing four repeats (4R). Variable, but assoc
PAPER Spillantini MG, Goedert M
Tau mutations in familial frontotemporal dementia.
Brain. 2000 May;123 ( Pt 5):857-9. PubMed: 10775532Methylation a Turn Off for Disease Gene C9ORF72?
RESEARCH NEWS 2013-06-06 Research News Nucleotide repeats in the C9ORF72 gene are the most common cause of inherited amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). Since their discovery, the hexanucleotides have presented a puzzle for scientists
PAPER Cooper JJ, Ovsiew F
The relationship between schizophrenia and frontotemporal dementia.
J Geriatr Psychiatry Neurol. 2013 Sep;26(3):131-7. PubMed: 23733854PAPER Nanou A, Higginbottom A, Valori CF, Wyles M, Ning K, Shaw P, Azzouz M
Viral delivery of antioxidant genes as a therapeutic strategy in experimental models of amyotrophic lateral sclerosis.
Mol Ther. 2013 Aug;21(8):1486-96. PubMed: 23732987PAPER Ivankov DN, Bogatyreva NS, Hönigschmid P, Dislich B, Hogl S, Kuhn PH, Frishman D, Lichtenthaler SF
QARIP: a web server for quantitative proteomic analysis of regulated intramembrane proteolysis.
Nucleic Acids Res. 2013 Jul;41(Web Server issue):W459-64. PubMed: 23729472PAPER Tamura H, Ishikawa Y, Shiosaka S
Does extracellular proteolysis control mammalian cognition?
Rev Neurosci. 2013;24(4):365-74. PubMed: 23729556PAPER Gonzalez-Montalban N, Lee YJ, Makarava N, Savtchenko R, Baskakov IV
Changes in prion replication environment cause prion strain mutation.
FASEB J. 2013 Sep;27(9):3702-10. PubMed: 23729586PAPER Rideout HJ, Stefanis L
The Neurobiology of LRRK2 and its Role in the Pathogenesis of Parkinson's Disease.
Neurochem Res. 2013 Jun 1; PubMed: 23729298PAPER Fonseca MB, Solá S, Xavier JM, Dionísio PA, Rodrigues CM
Amyloid β Peptides Promote Autophagy-Dependent Differentiation of Mouse Neural Stem Cells: Aβ-mediated neural differentiation.
Mol Neurobiol. 2013 Jun 2; PubMed: 23729317PAPER Sajjadi SA, Acosta-Cabronero J, Patterson K, Diaz-de-Grenu LZ, Williams GB, Nestor PJ
Diffusion tensor magnetic resonance imaging for single subject diagnosis in neurodegenerative diseases.
Brain. 2013 Jul;136(Pt 7):2253-61. PubMed: 23729473PAPER Goutagny R, Krantic S
Hippocampal oscillatory activity in Alzheimer's disease: toward the identification of early biomarkers?
Aging Dis. 2013 Jun;4(3):134-40. PubMed: 23730529Current Filters
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