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A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase.
Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Tocino T, Amouri R, Sassi SB, Hentati F; Global Parkinson’s Genetics Program (GP2); Tonelli F, Alessi DR, Farrer MJ. Gustavsson EK, et al. Among authors: fox jd. medRxiv [Preprint]. 2024 Jan 18:2024.01.17.24300927. doi: 10.1101/2024.01.17.24300927. medRxiv. 2024. PMID: 38293014 Free PMC article. Preprint.
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Periñan MT, Amouri R, Ben Sassi S, Hentati F; Global Parkinson's Genetics Program (GP2); Tonelli F, Alessi DR, Farrer MJ. Gustavsson EK, et al. Among authors: fox jd. Lancet Neurol. 2024 Jun;23(6):603-614. doi: 10.1016/S1474-4422(24)00121-2. Epub 2024 Apr 10. Lancet Neurol. 2024. PMID: 38614108 Free article.
Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.
Cronin SJF, Yu W, Hale A, Licht-Mayer S, Crabtree MJ, Korecka JA, Tretiakov EO, Sealey-Cardona M, Somlyay M, Onji M, An M, Fox JD, Turnes BL, Gomez-Diaz C, da Luz Scheffer D, Cikes D, Nagy V, Weidinger A, Wolf A, Reither H, Chabloz A, Kavirayani A, Rao S, Andrews N, Latremoliere A, Costigan M, Douglas G, Freitas FC, Pifl C, Walz R, Konrat R, Mahad DJ, Koslov AV, Latini A, Isacson O, Harkany T, Hallett PJ, Bagby S, Woolf CJ, Channon KM, Je HS, Penninger JM. Cronin SJF, et al. Among authors: fox jd. bioRxiv [Preprint]. 2023 May 8:2023.05.08.539795. doi: 10.1101/2023.05.08.539795. bioRxiv. 2023. PMID: 37214873 Free PMC article. Preprint.
Telemedicine: An Effective Tool for Patient-Physician Communication.
Sabetian PW, Ouyang VW, Fox JD, Jimenez AE, Ankem HK, Saks BR, Maldonado DR, Lall AC, Domb BG. Sabetian PW, et al. Among authors: fox jd. Orthopedics. 2023 May;46(3):e173-e178. doi: 10.3928/01477447-20230104-07. Epub 2023 Jan 10. Orthopedics. 2023. PMID: 36623281
Maximal Outcome Improvement Willingness Thresholds Are Predictive of a Patient's Willingness to Undergo the Same Surgery, in Retrospect, Given the Known Outcome of Their Primary Hip Arthroscopy.
Maldonado DR, Fox JD, Kyin C, Jimenez AE, Saks BR, Curley AJ, Lall AC, Domb BG. Maldonado DR, et al. Among authors: fox jd. Arthrosc Sports Med Rehabil. 2022 Apr 20;4(3):e1007-e1013. doi: 10.1016/j.asmr.2022.02.004. eCollection 2022 Jun. Arthrosc Sports Med Rehabil. 2022. PMID: 35747669 Free PMC article.
161 results