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Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism.
Long P, May MM, James VM, Grannò S, Johnson JP, Tarpey P, Stevenson RE, Harvey K, Schwartz CE, Harvey RJ. Long P, et al. Front Mol Neurosci. 2016 Jan 20;8:83. doi: 10.3389/fnmol.2015.00083. eCollection 2015. Front Mol Neurosci. 2016. PMID: 26834553 Free PMC article.
However, X-chromosome exome sequencing, bioinformatics analysis and segregation analysis revealed a novel missense mutation (c.1012C>T; p.R338W) in ARHGEF9. This gene encodes collybistin (CB), a neuronal GDP-GTP exchange factor previously implicated in several cases of …
However, X-chromosome exome sequencing, bioinformatics analysis and segregation analysis revealed a novel missense mutation (c.1012C>T; …
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
Stödberg T, McTague A, Ruiz AJ, Hirata H, Zhen J, Long P, Farabella I, Meyer E, Kawahara A, Vassallo G, Stivaros SM, Bjursell MK, Stranneheim H, Tigerschiöld S, Persson B, Bangash I, Das K, Hughes D, Lesko N, Lundeberg J, Scott RC, Poduri A, Scheffer IE, Smith H, Gissen P, Schorge S, Reith ME, Topf M, Kullmann DM, Harvey RJ, Wedell A, Kurian MA. Stödberg T, et al. Among authors: long p. Nat Commun. 2015 Sep 3;6:8038. doi: 10.1038/ncomms9038. Nat Commun. 2015. PMID: 26333769 Free PMC article.
Development and Evaluation in Rat and Monkey of a Candidate Homochiral Radioligand for PET Studies of Brain Receptor Interacting Protein Kinase 1: [18F](S)-1-(5-(3-Fluorophenyl)-4,5-dihydro-1H-pyrazol-1-yl)-2,2-dimethylpropan-1-one.
Jana S, Maqbool M, Yan X, Jakobsson JE, Lee AC, Liow JS, Zoghbi SS, Wu S, Long P, Innis RB, Telu S, Pike VW. Jana S, et al. Among authors: long p. ACS Chem Neurosci. 2025 Jan 2. doi: 10.1021/acschemneuro.4c00715. Online ahead of print. ACS Chem Neurosci. 2025. PMID: 39745023
1,168 results