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MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Reid KM, Spaull R, Salian S, Barwick K, Meyer E, Zhen J, Hirata H, Sheipouri D, Benkerroum H, Gorman KM, Papandreou A, Simpson MA, Hirano Y, Farabella I, Topf M, Grozeva D, Carss K, Smith M, Pall H, Lunt P, De Gressi S, Kamsteeg EJ, Haack TB, Carr L, Guerreiro R, Bras J, Maher ER, Scott RH, Vandenberg RJ, Raymond FL, Chong WK, Sudhakar S, Mankad K, Reith ME, Campeau PM, Harvey RJ, Kurian MA. Reid KM, et al. Among authors: bras j. Mov Disord. 2022 Oct;37(10):2139-2146. doi: 10.1002/mds.29147. Epub 2022 Jul 25. Mov Disord. 2022. PMID: 35876425 Free PMC article.
Screening for VPS35 mutations in Parkinson's disease.
Sheerin UM, Charlesworth G, Bras J, Guerreiro R, Bhatia K, Foltynie T, Limousin P, Silveira-Moriyama L, Lees A, Wood N. Sheerin UM, et al. Among authors: bras j. Neurobiol Aging. 2012 Apr;33(4):838.e1-5. doi: 10.1016/j.neurobiolaging.2011.10.032. Epub 2011 Dec 7. Neurobiol Aging. 2012. PMID: 22154191 Free PMC article.
SnapShot: genetics of Alzheimer's disease.
Guerreiro R, Brás J, Hardy J. Guerreiro R, et al. Among authors: bras j. Cell. 2013 Nov 7;155(4):968-968.e1. doi: 10.1016/j.cell.2013.10.037. Cell. 2013. PMID: 24209629 Free article. No abstract available.
Nonsense mutation in PRNP associated with clinical Alzheimer's disease.
Guerreiro R, Brás J, Wojtas A, Rademakers R, Hardy J, Graff-Radford N. Guerreiro R, et al. Among authors: bras j. Neurobiol Aging. 2014 Nov;35(11):2656.e13-2656.e16. doi: 10.1016/j.neurobiolaging.2014.05.013. Epub 2014 May 27. Neurobiol Aging. 2014. PMID: 24958194 Free PMC article.
Mutant ADA2 in vasculopathies.
Bras J, Guerreiro R, Santo GC. Bras J, et al. N Engl J Med. 2014 Jul 31;371(5):478-80. doi: 10.1056/NEJMc1405506. N Engl J Med. 2014. PMID: 25075847 No abstract available.
SnapShot: Genetics of Parkinson's disease.
Brás J, Guerreiro R, Hardy J. Brás J, et al. Cell. 2015 Jan 29;160(3):570-570.e1. doi: 10.1016/j.cell.2015.01.019. Cell. 2015. PMID: 25635463 Free article. No abstract available.
795 results