PAPER Tsai CP, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC
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PAPER Sahakitrungruang T, Tee MK, Rattanachartnarong N, Shotelersuk V, Suphapeetiporn K, Miller WL
Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families.
Horm Res Paediatr. 2010;73(5):349-54. Epub 2010 Apr 14 PubMed: 20389105PAPER Lemmens R, Race V, Hersmus N, Matthijs G, Van Den Bosch L, Van Damme P, Dubois B, Boonen S, Goris A, Robberecht W
TDP-43 M311V mutation in familial amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry. 2009 Mar;80(3):354-5. PubMed: 19228676PAPER Armstrong SP, Seeber RM, Ayoub MA, Feldman BJ, Pfleger KD
Characterization of three vasopressin receptor 2 variants: an apparent polymorphism (V266A) and two loss-of-function mutations (R181C and M311V).
PLoS One. 2013;8(6):e65885. Print 2013 PubMed: 23762448PAPER Zou ZY, Peng Y, Wang XN, Liu MS, Li XG, Cui LY
Screening of the TARDBP gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin.
Neurobiol Aging. 2012 Sep;33(9):2229.e11-2229.e18. Epub 2012 May 9 PubMed: 22575358PAPER Orrù S, Manolakos E, Orrù N, Kokotas H, Mascia V, Carcassi C, Petersen MB
High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.
Clin Genet. 2012 Feb;81(2):172-8. Epub 2011 Apr 18 PubMed: 21418058PAPER Pamphlett R, Luquin N, McLean C, Jew SK, Adams L
TDP-43 neuropathology is similar in sporadic amyotrophic lateral sclerosis with or without TDP-43 mutations.
Neuropathol Appl Neurobiol. 2009 Apr;35(2):222-5. PubMed: 18986339PAPER Daoud H, Valdmanis PN, Kabashi E, Dion P, Dupré N, Camu W, Meininger V, Rouleau GA
Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.
J Med Genet. 2009 Feb;46(2):112-4. Epub 2008 Oct 17 PubMed: 18931000PAPER Luquin N, Yu B, Saunderson RB, Trent RJ, Pamphlett R
Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis.
Neuromuscul Disord. 2009 Oct;19(10):696-700. Epub 2009 Aug 19 PubMed: 19695877Novel Immunotherapeutics Summit
CONFERENCE 2015-01-29 00:00:00-2015-01-30 00:00:00 San Diego, California 29 January 2015 to 30 January 2015 The Summit will begin with a plenary keynote session, and then break into four concurrent conferences, all of which will talk about complementary areas of the latest breakthroughs in the immunology
Immunogenicity and Immunotoxicity Conference 2015
CONFERENCE 2015-01-29 00:00:00-2015-01-30 00:00:00 San Diego, California 29 January 2015 to 30 January 2015 The 3rd Immunogenicity and Immunotoxicity Conference, one of four parallel tracks to the Novel Immunotherapeutics Summit 2015, will cover important progress made in the areas of therapeutic protein
PAPER Houlden H, Baker M, Morris HR, MacDonald N, Pickering-Brown S, Adamson J, Lees AJ, Rossor MN, Quinn NP, Kertesz A, Khan MN, Hardy J, Lantos PL, St George-Hyslop P, Munoz DG, Mann D, Lang AE, Bergeron C, Bigio EH, Litvan I, Bhatia KP, Dickson D, Wood NW, Hutton M
Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype.
Neurology. 2001 Jun 26;56(12):1702-6. PubMed: 11425937Azka Khan
C9ORF72’s Dirty Work Done by Problem Proteins
RESEARCH NEWS 2014-08-11 Research News Hexanucleotide repeat expansions in the C9ORF72 gene are the leading genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis, but alas, researchers do not know whether these repeats wreak havoc by way of wonky RNA molecule
PAPER Mizielinska S, Grönke S, Niccoli T, Ridler CE, Clayton EL, Devoy A, Moens T, Norona FE, Woollacott IO, Pietrzyk J, Cleverley K, Nicoll AJ, Pickering-Brown S, Dols J, Cabecinha M, Hendrich O, Fratta P, Fisher EM, Partridge L, Isaacs AM
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins.
Science. 2014 Sep 5;345(6201):1192-1194. Epub 2014 Aug 7 PubMed: 25103406Current Filters
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