PAPER Xi Z, Zinman L, Moreno D, Schymick J, Liang Y, Sato C, Zheng Y, Ghani M, Dib S, Keith J, Robertson J, Rogaeva E
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PAPER Thornton CA, Wymer JP, Simmons Z, McClain C, Moxley RT
Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene.
Nat Genet. 1997 Aug;16(4):407-9. PubMed: 9241283PAPER Klesert TR, Otten AD, Bird TD, Tapscott SJ
Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP.
Nat Genet. 1997 Aug;16(4):402-6. PubMed: 9241282PAPER López Castel A, Nakamori M, Tomé S, Chitayat D, Gourdon G, Thornton CA, Pearson CE
Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues.
Hum Mol Genet. 2011 Jan 1;20(1):1-15. PubMed: 21044947PAPER Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, Warren ST
DNA methylation represses FMR-1 transcription in fragile X syndrome.
Hum Mol Genet. 1992 Sep;1(6):397-400. PubMed: 1301913MAPT 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: 23729586Current Filters
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