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Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.
Hague S, Rogaeva E, Hernandez D, Gulick C, Singleton A, Hanson M, Johnson J, Weiser R, Gallardo M, Ravina B, Gwinn-Hardy K, Crawley A, St George-Hyslop PH, Lang AE, Heutink P, Bonifati V, Hardy J, Singleton A. Hague S, et al. Among authors: hernandez d. Ann Neurol. 2003 Aug;54(2):271-4. doi: 10.1002/ana.10663. Ann Neurol. 2003. PMID: 12891685
Phenomenology of "Lubag" or X-linked dystonia-parkinsonism.
Evidente VG, Advincula J, Esteban R, Pasco P, Alfon JA, Natividad FF, Cuanang J, Luis AS, Gwinn-Hardy K, Hardy J, Hernandez D, Singleton A. Evidente VG, et al. Among authors: hernandez d. Mov Disord. 2002 Nov;17(6):1271-7. doi: 10.1002/mds.10271. Mov Disord. 2002. PMID: 12465067
Mutation at the SCA17 locus is not a common cause of parkinsonism.
Hernandez D, Hanson M, Singleton A, Gwinn-Hardy K, Freeman J, Ravina B, Doheny D, Gallardo M, Weiser R, Hardy J, Singleton A. Hernandez D, et al. Parkinsonism Relat Disord. 2003 Aug;9(6):317-20. doi: 10.1016/s1353-8020(03)00027-0. Parkinsonism Relat Disord. 2003. PMID: 12853230
Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease.
Nichols WC, Pankratz N, Hernandez D, Paisán-Ruíz C, Jain S, Halter CA, Michaels VE, Reed T, Rudolph A, Shults CW, Singleton A, Foroud T; Parkinson Study Group-PROGENI investigators. Nichols WC, et al. Among authors: hernandez d. Lancet. 2005 Jan 29-Feb 4;365(9457):410-2. doi: 10.1016/S0140-6736(05)17828-3. Lancet. 2005. PMID: 15680455
2,059 results