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Parkinsonism syndrome in heterozygotes for Niemann-Pick C1.
Kluenemann HH, Nutt JG, Davis MY, Bird TD. Kluenemann HH, et al. Among authors: davis my. J Neurol Sci. 2013 Dec 15;335(1-2):219-20. doi: 10.1016/j.jns.2013.08.033. Epub 2013 Sep 3. J Neurol Sci. 2013. PMID: 24035292 Free PMC article.
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.
Chen DH, Méneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, Stessman HA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perrière N, Degos B, Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet M, Winesett S, Trouillard O, Amendola LM, Dorschner MO, Weiss M, Eichler EE, Torkamani A, Roze E, Bird TD, Raskind WH. Chen DH, et al. Among authors: davis my. Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4. Neurology. 2015. PMID: 26537056 Free PMC article.
The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.
Mata IF, Davis MY, Lopez AN, Dorschner MO, Martinez E, Yearout D, Cholerton BA, Hu SC, Edwards KL, Bird TD, Zabetian CP. Mata IF, et al. Among authors: davis my. Am J Med Genet B Neuropsychiatr Genet. 2016 Oct;171(7):925-30. doi: 10.1002/ajmg.b.32452. Epub 2016 Apr 25. Am J Med Genet B Neuropsychiatr Genet. 2016. PMID: 27111571 Free PMC article.
32 results