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2. Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations. Elfferich P; Verleun-Mooijman MC; Maat-Kievit JA; van de Warrenburg BP; Abdo WF; Eshuis SA; Leenders KL; Hovestadt A; Zijlmans JC; Stroy JP; van Swieten JC; Boon AJ; van Engelen K; Verschuuren-Bemelmans CC; Lesnik-Oberstein SA; Tassorelli C; Lopiano L; Bonifati V; Dooijes D; van Minkelen R Neurogenetics; 2011 Nov; 12(4):263-71. PubMed ID: 21993715 [TBL] [Abstract][Full Text] [Related]
3. [Analysis of deletion mutations in the PARK2 gene in idiopathic Parkinson's disease]. Slominskiĭ PA; Miloserdova OV; Popova SN; Giliazova IR; Khidiiatova IV; Magzhanov RV; Khusnutdinova EK; Limborskaia SA Genetika; 2003 Feb; 39(2):223-8. PubMed ID: 12669418 [TBL] [Abstract][Full Text] [Related]
4. Analysis of PARK2 gene exon rearrangements in Russian patients with sporadic Parkinson's disease. Semenova EV; Shadrina MI; Slominsky PA; Ivanova-Smolenskaya IA; Bagyeva G; Illarioshkin SN; Limborska SA Mov Disord; 2012 Jan; 27(1):139-42. PubMed ID: 21915905 [TBL] [Abstract][Full Text] [Related]
5. Second mutation in PARK2 is absent in patients with sporadic Parkinson's disease and heterozygous exonic deletions/duplications in parkin gene. Shulskaya MV; Shadrina MI; Fedotova EY; Abramycheva NY; Limborska SA; Illarioshkin SN; Slominsky PA Int J Neurosci; 2017 Sep; 127(9):781-784. PubMed ID: 27798970 [TBL] [Abstract][Full Text] [Related]
6. Exon dosage variations in Brazilian patients with Parkinson's disease: analysis of SNCA, PARKIN, PINK1 and DJ-1 genes. Moura KC; Junior MC; de Rosso AL; Nicaretta DH; Pereira JS; José Silva D; Santos-Rebouças CB; Pimentel MM Dis Markers; 2012; 32(3):173-8. PubMed ID: 22377733 [TBL] [Abstract][Full Text] [Related]
7. Low frequency of the PARK2 gene mutations in Polish patients with the early-onset form of Parkinson disease. Koziorowski D; Hoffman-Zacharska D; Sławek J; Szirkowiec W; Janik P; Bal J; Friedman A Parkinsonism Relat Disord; 2010 Feb; 16(2):136-8. PubMed ID: 19628420 [TBL] [Abstract][Full Text] [Related]
8. Exonic rearrangements in the known Parkinson's disease-causing genes are a rare cause of the disease in South African patients. van der Merwe C; Carr J; Glanzmann B; Bardien S Neurosci Lett; 2016 Apr; 619():168-71. PubMed ID: 27001088 [TBL] [Abstract][Full Text] [Related]
9. Han Chinese family with early-onset Parkinson's disease carries novel compound heterozygous mutations in the PARK2 gene. Huang T; Gao CY; Wu L; Gong PY; Wang JZ; Tian YY; Zhang YD Brain Behav; 2019 Sep; 9(9):e01372. PubMed ID: 31386307 [TBL] [Abstract][Full Text] [Related]
10. Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease. Kim SY; Seong MW; Jeon BS; Kim SY; Ko HS; Kim JY; Park SS Clin Genet; 2012 Jul; 82(1):77-82. PubMed ID: 21534944 [TBL] [Abstract][Full Text] [Related]
11. Prevalence of parkin gene mutations and variations in idiopathic Parkinson's disease. Sinha R; Racette B; Perlmutter JS; Parsian A Parkinsonism Relat Disord; 2005 Sep; 11(6):341-7. PubMed ID: 16019250 [TBL] [Abstract][Full Text] [Related]
12. High frequency of Parkin exon rearrangements in Mexican-mestizo patients with early-onset Parkinson's disease. Guerrero Camacho JL; Monroy Jaramillo N; Yescas Gómez P; Rodríguez Violante M; Boll Woehrlen C; Alonso Vilatela ME; López López M Mov Disord; 2012 Jul; 27(8):1047-51. PubMed ID: 22777964 [TBL] [Abstract][Full Text] [Related]
13. Distribution, type, and origin of Parkin mutations: review and case studies. Hedrich K; Eskelson C; Wilmot B; Marder K; Harris J; Garrels J; Meija-Santana H; Vieregge P; Jacobs H; Bressman SB; Lang AE; Kann M; Abbruzzese G; Martinelli P; Schwinger E; Ozelius LJ; Pramstaller PP; Klein C; Kramer P Mov Disord; 2004 Oct; 19(10):1146-57. PubMed ID: 15390068 [TBL] [Abstract][Full Text] [Related]
14. Genetic mutations in early-onset Parkinson's disease Mexican patients: molecular testing implications. Monroy-Jaramillo N; Guerrero-Camacho JL; Rodríguez-Violante M; Boll-Woehrlen MC; Yescas-Gómez P; Alonso-Vilatela ME; López-López M Am J Med Genet B Neuropsychiatr Genet; 2014 Apr; 165B(3):235-44. PubMed ID: 24677602 [TBL] [Abstract][Full Text] [Related]
15. Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Hedrich K; Marder K; Harris J; Kann M; Lynch T; Meija-Santana H; Pramstaller PP; Schwinger E; Bressman SB; Fahn S; Klein C Neurology; 2002 Apr; 58(8):1239-46. PubMed ID: 11971093 [TBL] [Abstract][Full Text] [Related]
16. Genomic instability in the PARK2 locus is associated with Parkinson's disease. Ambroziak W; Koziorowski D; Duszyc K; Górka-Skoczylas P; Potulska-Chromik A; Sławek J; Hoffman-Zacharska D J Appl Genet; 2015 Nov; 56(4):451-461. PubMed ID: 25833766 [TBL] [Abstract][Full Text] [Related]
17. Analysis of Exon Dosage Using Multiplex Ligation-Dependent Probe Amplification in Chinese Patients with Early-Onset Parkinson's Disease. Lin Y; Zeng YF; Cai NQ; Lin XZ; Wang N; He J Eur Neurol; 2019; 81(5-6):246-253. PubMed ID: 31618739 [TBL] [Abstract][Full Text] [Related]
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