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Page 1
Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.
Krohn L, Öztürk TN, Vanderperre B, Ouled Amar Bencheikh B, Ruskey JA, Laurent SB, Spiegelman D, Postuma RB, Arnulf I, Hu MTM, Dauvilliers Y, Högl B, Stefani A, Monaca CC, Plazzi G, Antelmi E, Ferini-Strambi L, Heidbreder A, Rudakou U, Cochen De Cock V, Young P, Wolf P, Oliva P, Zhang XK, Greenbaum L, Liong C, Gagnon JF, Desautels A, Hassin-Baer S, Montplaisir JY, Dupré N, Rouleau GA, Fon EA, Trempe JF, Lamoureux G, Alcalay RN, Gan-Or Z. Krohn L, et al. Ann Neurol. 2020 Jan;87(1):139-153. doi: 10.1002/ana.25629. Epub 2019 Nov 18. Ann Neurol. 2020. PMID: 31658403
The LRRK2 G2019S mutation is associated with Parkinson disease and concomitant non-skin cancers.
Inzelberg R, Cohen OS, Aharon-Peretz J, Schlesinger I, Gershoni-Baruch R, Djaldetti R, Nitsan Z, Ephraty L, Tunkel O, Kozlova E, Inzelberg L, Kaplan N, Fixler Mehr T, Mory A, Dagan E, Schechtman E, Friedman E, Hassin-Baer S. Inzelberg R, et al. Neurology. 2012 Mar 13;78(11):781-6. doi: 10.1212/WNL.0b013e318249f673. Epub 2012 Feb 8. Neurology. 2012. PMID: 22323743
The impact of early versus late levodopa administration.
Yahalom G, Cohen OS, Warmann-Alaluf N, Shabat C, Strauss H, Elincx-Benizri S, Israeli-Korn S, Stein E, Greenbaum L, Hassin-Baer S. Yahalom G, et al. J Neural Transm (Vienna). 2017 Apr;124(4):471-476. doi: 10.1007/s00702-016-1669-4. Epub 2016 Dec 21. J Neural Transm (Vienna). 2017. PMID: 28004202
Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.
Blauwendraat C, Kia DA, Pihlstrøm L, Gan-Or Z, Lesage S, Gibbs JR, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Chung SJ, Goldwurm S, Toft M, Schulte C; International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium; Hernandez D, Singleton AB, Nalls MA, Brice A, Scholz SW, Wood NW. Blauwendraat C, et al. Neurobiol Aging. 2018 Apr;64:159.e5-159.e8. doi: 10.1016/j.neurobiolaging.2017.12.012. Epub 2017 Dec 20. Neurobiol Aging. 2018. PMID: 29398121 Free PMC article.
Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease.
Ruskey JA, Greenbaum L, Roncière L, Alam A, Spiegelman D, Liong C, Levy OA, Waters C, Fahn S, Marder KS, Chung W, Yahalom G, Israeli-Korn S, Livneh V, Fay-Karmon T, Alcalay RN, Hassin-Baer S, Gan-Or Z. Ruskey JA, et al. Eur J Med Genet. 2019 Jan;62(1):65-69. doi: 10.1016/j.ejmg.2018.05.005. Epub 2018 May 26. Eur J Med Genet. 2019. PMID: 29842932 Free PMC article.
148 results