Genetics and genomics of Parkinson’s disease

Abstract

Parkinson's disease (PD) is a progressively debilitating neurodegenerative syndrome. Although best described as a movement disorder, the condition has prominent autonomic, cognitive, psychiatric, sensory and sleep components. Striatal dopaminergic innervation and nigral neurons are progressively lost, with associated Lewy pathology readily apparent on autopsy. Nevertheless, knowledge of the molecular events leading to this pathophysiology is limited. Current therapies offer symptomatic benefit but they fail to slow progression and patients continue to deteriorate. Recent discoveries in sporadic, Mendelian and more complex forms of parkinsonism provide novel insight into disease etiology; 28 genes, including those encoding alpha-synuclein (SNCA), leucine-rich repeat kinase 2 (LRRK2) and microtubule-associated protein tau (MAPT), have been linked and/or associated with PD. A consensus regarding the affected biological pathways and molecular processes has also started to emerge. In early-onset and more a typical PD, deficits in mitophagy pathways and lysosomal function appear to be prominent. By contrast, in more typical late-onset PD, chronic, albeit subtle, dysfunction in synaptic transmission, early endosomal trafficking and receptor recycling, as well as chaperone-mediated autophagy, provide a unifying synthesis of the molecular pathways involved. Disease-modification (neuroprotection) is no longer such an elusive goal given the unparalleled opportunity for diagnosis, translational neuroscience and therapeutic development provided by genetic discovery.

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References 153

1. 1.

   de Lau LM Breteler MM Epidemiology of Parkinson’s diseaseLancet Neurol2006 5525535

   Not in our library10.1016/s1474-4422(06)70471-9

2. 2.

   Fahn S Description of Parkinson’s disease as a clinical syndromeAnn N Y Acad Sci2003 991114

   Not in our library10.1111/j.1749-6632.2003.tb07458.x

3. 3.

   Benabid AL Chabardes S Mitrofanis J Pollak P Deep brain stimulation of the subthalamic nucleus for the treatment of Parkinson’s diseaseLancet Neurol2009 86781

   Not in our library10.1016/s1474-4422(08)70291-6

4. 4.

   Langston JW The Parkinson’s complex: parkinsonism is just the tip of the icebergAnn Neurol2006 59591596

   Not in our library10.1002/ana.20834

5. 5.

   Aarsland D Kurz MW The epidemiology of dementia associated with Parkinson’s diseaseBrain Pathol2010 20633639

   Not in our library10.1111/j.1750-3639.2009.00369.x

6. 6.

   Hughes AJ Daniel SE Ben-Shlomo Y Lees AJ The accuracy of diagnosis of parkinsonian syndromes in a specialist movement disorder serviceBrain2002 125861870

   Not in our library10.1093/brain/awf080

7. 7.

   Goedert M Spillantini MG Del Tredici K Braak H 100 years of Lewy pathologyNat Rev Neurol2013 91324

   Not in our library10.1038/nrneurol.2012.242

8. 8.

   Trinh J Farrer M Advances in the genetics of Parkinson diseaseNat Rev Neurol2013 9445454

   Not in our library10.1038/nrneurol.2013.132

9. 9.
   Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease · 2011

   No notice
10. 10.

    Wirdefeldt K Gatz M Reynolds CA Prescott CA Pedersen NL Heritability of Parkinson disease in Swedish twins: a longitudinal studyNeurobiol Aging1923 2011e1e8

    Not in our library10.1016/j.neurobiolaging.2011.02.017

11. 11.

    Ross OA Braithwaite AT Skipper LM Kachergus J Hulihan MM Middleton FA Nishioka K Fuchs J Gasser T Maraganore DM Adler CH Larvor L Chartier-Harlin MC Nilsson C Langston JW Gwinn K Hattori N Farrer MJ Genomic investigation of alpha-synuclein multiplication and parkinsonismAnn Neurol2008 63743750

    Not in our library10.1002/ana.21380

12. 12.

    Abeliovich A Schmitz Y Farinas I Choi-Lundberg D Ho WH Castillo PE Shinsky N Verdugo JM Armanini M Ryan A Hynes M Phillips H Sulzer D Rosenthal A Mice lacking alpha-synuclein display functional deficits in the nigrostriatal dopamine systemNeuron2000 25239252

    Not in our library10.1016/s0896-6273(00)80886-7

13. 13.

    Burre J Sharma M Tsetsenis T Buchman V Etherton MR Sudhof TC Alpha-synuclein promotes SNARE-complex assembly in vivo and in vitroScience2010 32916631667

    Not in our library10.1126/science.1195227

14. 14.

    Olanow CW Prusiner SB Is Parkinson’s disease a prion disorder?Proc Natl Acad Sci U S A2009 1061257112572

    Not in our library10.1073/pnas.0906759106

15. 15.

    Kordower JH Chu Y Hauser RA Freeman TB Olanow CW Lewy body-like pathology in long-term embryonic nigral transplants in Parkinson’s diseaseNat Med2008 14504506

    Not in our library10.1038/nm1747

16. 16.

    Luk KC Kehm V Carroll J Zhang B O’Brien P Trojanowski JQ Lee VM Pathological alpha-synuclein transmission initiates Parkinson-like neurodegeneration in nontransgenic miceScience2012 338949953

    Not in our library10.1126/science.1227157

17. 17.
    α-Synuclein Suppression by Targeted Small Interfering RNA in the Primate Substantia Nigra · 2010

    No notice
18. 18.

    Valera E Masliah E Immunotherapy for neurodegenerative diseases: focus on alpha-synucleinopathiesPharmacol Ther2013 138311322

    Not in our library10.1016/j.pharmthera.2013.01.013

19. 19.

    Trinh J Amouri R Duda JE Morley JF Read M Donald A Vilarino-Guell C Thompson C Szu Tu C Gustavsson EK Ben Sassi S Hentati E Zouari M Farhat E Nabli F Hentati F Farrer MJ A comparative study of Parkinson’s disease and leucine-rich repeat kinase 2 p.G2019S parkinsonismNeurobiol Aging2014 3511251131

    Not in our library10.1016/j.neurobiolaging.2013.11.015

20. 20.

    Ozelius LJ Senthil G Saunders-Pullman R Ohmann E Deligtisch A Tagliati M Hunt AL Klein C Henick B Hailpern SM Lipton RB Soto-Valencia J Risch N Bressman SB LRRK2 G2019S as a cause of Parkinson’s disease in Ashkenazi JewsN Engl J Med2006 354424425

    Not in our library10.1056/nejmc055509

21. 21.

    Clark LN Wang Y Karlins E Saito L Mejia-Santana H Harris J Louis ED Cote LJ Andrews H Fahn S Waters C Ford B Frucht S Ottman R Marder K Frequency of LRRK2 mutations in early- and late-onset Parkinson diseaseNeurology2006 6717861791

    Not in our library10.1212/01.wnl.0000244345.49809.36

22. 22.

    Hentati F Trinh J Thompson C Nosova E Farrer MJ Aasly JO LRRK2 parkinsonism in Tunisia and Norway: a comparative study of disease penetranceNeurology2014 8312

    Not in our library10.1212/wnl.0000000000000675

23. 23.

    Hulihan MM Ishihara-Paul L Kachergus J Warren L Amouri R Elango R Prinjha RK Upmanyu R Kefi M Zouari M Sassi SB Yahmed SB El Euch-Fayeche G Matthews PM Middleton LT Gibson RA Hentati F Farrer MJ LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: a case-control genetic studyLancet Neurol2008 7591594

    Not in our library10.1016/s1474-4422(08)70116-9

24. 24.

    Thaler A Ash E Gan-Or Z Orr-Urtreger A Giladi N The LRRK2 G2019S mutation as the cause of Parkinson’s disease in Ashkenazi JewsJ Neural Transm2009 11614731482

    Not in our library10.1007/s00702-009-0303-0

25. 25.

    Gardet A Benita Y Li C Sands BE Ballester I Stevens C Korzenik JR Rioux JD Daly MJ Xavier RJ Podolsky DK LRRK2 is involved in the IFN-gamma response and host response to pathogensJ Immunol2010 18555775585

    Not in our library10.4049/jimmunol.1000548

26. 26.

    Herzig MC Kolly C Persohn E Theil D Schweizer T Hafner T Stemmelen C Troxler TJ Schmid P Danner S Schnell CR Mueller M Kinzel B Grevot A Bolognani F Stirn M Kuhn RR Kaupmann K van der Putten PH Rovelli G Shimshek DR LRRK2 protein levels are determined by kinase function and are crucial for kidney and lung homeostasis in miceHum Mol Genet2011 2042094223

    Not in our library10.1093/hmg/ddr348

27. 27.

    Umeno J Asano K Matsushita T Matsumoto T Kiyohara Y Iida M Nakamura Y Kamatani N Kubo M Meta-analysis of published studies identified eight additional common susceptibility loci for Crohn’s disease and ulcerative colitisInflamm Bowel Dis2011 1724072415

    Not in our library10.1002/ibd.21651

28. 28.

    Funayama M Li Y Tomiyama H Yoshino H Imamichi Y Yamamoto M Murata M Toda T Mizuno Y Hattori N Leucine-rich repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian populationNeuroreport2007 18273275

    Not in our library10.1097/wnr.0b013e32801254b6

29. 29.

    Ross OA Toft M Whittle AJ Johnson JL Papapetropoulos S Mash DC Litvan I Gordon MF Wszolek ZK Farrer MJ Dickson DW Lrrk2 and Lewy body diseaseAnn Neurol2006 59388393

    Not in our library10.1002/ana.20731

30. 30.

    Rajput A Dickson DW Robinson CA Ross OA Dachsel JC Lincoln SJ Cobb SA Rajput ML Farrer MJ Parkinsonism, Lrrk2 G2019S, and tau neuropathologyNeurology2006 6715061508

    Not in our library10.1212/01.wnl.0000240220.33950.0c

31. 31.

    Ujiie S Hatano T Kubo S Imai S Sato S Uchihara T Yagishita S Hasegawa K Kowa H Sakai F Hattori N LRRK2 I2020T mutation is associated with tau pathologyParkinsonism Relat Disord2012 18819823

    Not in our library10.1016/j.parkreldis.2012.03.024

32. 32.

    Zimprich A Biskup S Leitner P Lichtner P Farrer M Lincoln S Kachergus J Hulihan M Uitti RJ Calne DB Stoessl AJ Pfeiffer RF Patenge N Carbajal IC Vieregge P Asmus F Müller-Myhsok B Dickson DW Meitinger T Strom TM Wszolek ZK Gasser T Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathologyNeuron2004 44601607

    Not in our library10.1016/j.neuron.2004.11.005

33. 33.

    Marin I van Egmond WN van Haastert PJ The Roco protein family: a functional perspectiveFASEB J2008 2231033110

    Not in our library10.1096/fj.08-111310

34. 34.

    Ross OA Soto-Ortolaza AI Heckman MG Aasly JO Abahuni N Annesi G Bacon JA Bardien S Bozi M Brice A Brighina L Van Broeckhoven C Carr J Chartier-Harlin MC Dardiotis E Dickson DW Diehl NN Elbaz A Ferrarese C Ferraris A Fiske B Gibson JM Gibson R Hadjigeorgiou GM Hattori N Ioannidis JP Jasinska-Myga B Jeon BS Kim YJ Klein C Association of LRRK2 exonic variants with susceptibility to Parkinson’s disease: a case-control studyLancet Neurol2011 10898908

    Not in our library10.1016/s1474-4422(11)70175-2

35. 35.

    West AB Moore DJ Biskup S Bugayenko A Smith WW Ross CA Dawson VL Dawson TM Parkinson’s disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activityProc Natl Acad Sci U S A2005 1021684216847

    Not in our library10.1073/pnas.0507360102

36. 36.

    Jaleel M Nichols RJ Deak M Campbell DG Gillardon F Knebel A Alessi DR LRRK2 phosphorylates moesin at threonine-558: characterization of how Parkinson’s disease mutants affect kinase activityBiochem J2007 405307317

    Not in our library10.1042/bj20070209

37. 37.
    Inhibition of LRRK2 kinase activity leads to dephosphorylation of Ser910/Ser935, disruption of 14-3-3 binding and altered cytoplasmic localization · 2010

    No notice
38. 38.

    Deng X Dzamko N Prescott A Davies P Liu Q Yang Q Lee JD Patricelli MP Nomanbhoy TK Alessi DR Gray NS Characterization of a selective inhibitor of the Parkinson’s disease kinase LRRK2Nat Chem Biol2011 7203205

    Not in our library10.1038/nchembio.538

39. 39.

    Gilsbach BK Kortholt A Structural biology of the LRRK2 GTPase and kinase domains: implications for regulationFront Mol Neurosci2014 732

    Not in our library10.3389/fnmol.2014.00032

40. 40.

    de Silva R Hardy J Crook J Khan N Graham EA Morris CM Wood NW Lees AJ The tau locus is not significantly associated with pathologically confirmed sporadic Parkinson’s diseaseNeurosci Lett2002 330201203

    Not in our library10.1016/s0304-3940(02)00742-5

41. 41.

    Skipper L Wilkes K Toft M Baker M Lincoln S Hulihan M Ross OA Hutton M Aasly J Farrer M Linkage disequilibrium and association of MAPT H1 in Parkinson diseaseAm J Hum Genet2004 75669677

    Not in our library10.1086/424492

42. 42.

    Zody MC Jiang Z Fung HC Antonacci F Hillier LW Cardone MF Graves TA Kidd JM Cheng Z Abouelleil A Chen L Wallis J Glasscock J Wilson RK Reily AD Duckworth J Ventura M Hardy J Warren WC Eichler EE Evolutionary toggling of the MAPT 17q21.31 inversion regionNat Genet2008 4010761083

    Not in our library10.1038/ng.193

43. 43.

    Vandrovcova J Anaya F Kay V Lees A Hardy J de Silva R Disentangling the role of the tau gene locus in sporadic tauopathiesCurr Alzheimer Res2010 7726734

    Not in our library10.2174/156720510793611619

44. 44.

    Hutton M Lendon CL Rizzu P Baker M Froelich S Houlden H Pickering-Brown S Chakraverty S Isaacs A Grover A Hackett J Adamson J Lincoln S Dickson D Davies P Petersen RC Stevens M de Graaff E Wauters E van Baren J Hillebrand M Joosse M Kwon JM Nowotny P Che LK Norton J Morris JC Reed LA Trojanowski J Basun H Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17Nature1998 393702705

    Not in our library10.1038/31508

45. 45.

    Koolen DA Sharp AJ Hurst JA Firth HV Knight SJ Goldenberg A Saugier-Veber P Pfundt R Vissers LE Destrée A Grisart B Rooms L Van der Aa N Field M Hackett A Bell K Nowaczyk MJ Mancini GM Poddighe PJ Schwartz CE Rossi E De Gregori M Antonacci-Fulton LL McLellan MD 2nd Garrett JM Wiechert MA Miner TL Crosby S Ciccone R Willatt L Clinical and molecular delineation of the 17q21.31 microdeletion syndromeJ Med Genet2008 45710720

    Not in our library10.1136/jmg.2008.058701

46. 46.

    Goldstein DB Common genetic variation and human traitsN Engl J Med2009 36016961698

    Not in our library10.1056/nejmp0806284

47. 47.

    Hindorff LA Sethupathy P Junkins HA Ramos EM Mehta JP Collins FS Manolio TA Potential etiologic and functional implications of genome-wide association loci for human diseases and traitsProc Natl Acad Sci U S A2009 10693629367

    Not in our library10.1073/pnas.0903103106

48. 48.

    Maraganore DM de Andrade M Lesnick TG Strain KJ Farrer MJ Rocca WA Pant PV Frazer KA Cox DR Ballinger DG High-resolution whole-genome association study of Parkinson diseaseAm J Hum Genet2005 77685693

    Not in our library10.1086/496902

49. 49.

    Fung HC Scholz S Matarin M Simon-Sanchez J Hernandez D Britton A Gibbs JR Langefeld C Stiegert ML Schymick J Okun MS Mandel RJ Fernandez HH Foote KD Rodríguez RL Peckham E De Vrieze FW Gwinn-Hardy K Hardy JA Singleton A Genome-wide genotyping in Parkinson’s disease and neurologically normal controls: first stage analysis and public release of dataLancet Neurol2006 5911916

    Not in our library10.1016/s1474-4422(06)70578-6

50. 50.

    Pankratz N Wilk JB Latourelle JC DeStefano AL Halter C Pugh EW Doheny KF Gusella JF Nichols WC Foroud T Myers RH PSG-PROGENI and GenePD Investigators, Coordinators and Molecular Genetic LaboratoriesGenomewide association study for susceptibility genes contributing to familial Parkinson diseaseHum Genet2009 124593605

    Not in our library10.1007/s00439-008-0582-9

51. 51.

    Simón-Sánchez J Schulte C Bras JM Sharma M Gibbs JR Berg D Paisan-Ruiz C Lichtner P Scholz SW Hernandez DG Krüger R Federoff M Klein C Goate A Perlmutter J Bonin M Nalls MA Illig T Gieger C Houlden H Steffens M Okun MS Racette BA Cookson MR Foote KD Fernandez HH Traynor BJ Schreiber S Arepalli S Zonozi R Genome-wide association study reveals genetic risk underlying Parkinson’s diseaseNat Genet2009 4113081312

    Not in our library10.1038/ng.487

52. 52.

    Satake W Nakabayashi Y Mizuta I Hirota Y Ito C Kubo M Kawaguchi T Tsunoda T Watanabe M Takeda A Tomiyama H Nakashima K Hasegawa K Obata F Yoshikawa T Kawakami H Sakoda S Yamamoto M Hattori N Murata M Nakamura Y Toda T Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson’s diseaseNat Genet2009 4113031307

    Not in our library10.1038/ng.485

53. 53.

    Hamza TH Zabetian CP Tenesa A Laederach A Montimurro J Yearout D Kay DM Doheny KF Paschall J Pugh E Kusel VI Collura R Roberts J Griffith A Samii A Scott WK Nutt J Factor SA Payami H Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson’s diseaseNat Genet2010 42781785

    Not in our library10.1038/ng.642

54. 54.

    Simón-Sánchez J van Hilten JJ van de Warrenburg B Post B Berendse HW Arepalli S Hernandez DG de Bie RM Velseboer D Scheffer H Bloem B van Dijk KD Rivadeneira F Hofman A Uitterlinden AG Rizzu P Bochdanovits Z Singleton AB Heutink P Genome-wide association study confirms extant PD risk loci among the DutchEur J Hum Genet2011 19655661

    Not in our library10.1038/ejhg.2010.254

55. 55.

    Nalls MA Plagnol V Hernandez DG Sharma M Sheerin UM Saad M Simón-Sánchez J Schulte C Lesage S Sveinbjörnsdóttir S Stefánsson K Martinez M Hardy J Heutink P Brice A Gasser T Singleton AB Wood NW International Parkinson Disease Genomics ConsortiumImputation of sequence variants for identification of genetic risks for Parkinson’s disease: a meta-analysis of genome-wide association studiesLancet2011 377641649

    Not in our library10.1016/s0140-6736(10)62345-8

56. 56.

    Polymeropoulos MH Lavedan C Leroy E Ide SE Dehejia A Dutra A Pike B Root H Rubenstein J Boyer R Stenroos ES Chandrasekharappa S Athanassiadou A Papapetropoulos T Johnson WG Lazzarini AM Duvoisin RC Di Iorio G Golbe LI Nussbaum RL Mutation in the alpha-synuclein gene identified in families with Parkinson’s diseaseScience1997 27620452047

    Not in our library10.1126/science.276.5321.2045

57. 57.

    Farrer M Maraganore DM Lockhart P Singleton A Lesnick TG de Andrade M West A de Silva R Hardy J Hernandez D alpha-Synuclein gene haplotypes are associated with Parkinson’s diseaseHum Mol Genet2001 1018471851

    Not in our library10.1093/hmg/10.17.1847

58. 58.

    Singleton AB Farrer M Johnson J Singleton A Hague S Kachergus J Hulihan M Peuralinna T Dutra A Nussbaum R Lincoln S Crawley A Hanson M Maraganore D Adler C Cookson MR Muenter M Baptista M Miller D Blancato J Hardy J Gwinn-Hardy K alpha-Synuclein locus triplication causes Parkinson’s diseaseScience2003 302841

    Not in our library10.1126/science.1090278

59. 59.

    Zhang CX Engqvist-Goldstein AE Carreno S Owen DJ Smythe E Drubin DG Multiple roles for cyclin G-associated kinase in clathrin-mediated sorting eventsTraffic2005 611031113

    Not in our library10.1111/j.1600-0854.2005.00346.x

60. 60.

    Kawasaki T Kobayashi T Ueyama T Shirai Y Saito N Regulation of clathrin-dependent endocytosis by diacylglycerol kinase delta: importance of kinase activity and binding to AP2alphaBiochem J2008 409471479

    Not in our library10.1042/bj20070755

61. 61.

    Tennessen JA Bigham AW O’Connor TD Fu W Kenny EE Gravel S McGee S Do R Liu X Jun G Kang HM Jordan D Leal SM Gabriel S Rieder MJ Abecasis G Altshuler D Nickerson DA Boerwinkle E Sunyaev S Bustamante CD Bamshad MJ Akey JM Broad GO Seattle GO NHLBI Exome Sequencing ProjecEvolution and functional impact of rare coding variation from deep sequencing of human exomesScience2012 3376469

    Not in our library10.1126/science.1219240

62. 62.

    Ng SB Turner EH Robertson PD Flygare SD Bigham AW Lee C Shaffer T Wong M Bhattacharjee A Eichler EE Bamshad M Nickerson DA Shendure J Targeted capture and massively parallel sequencing of 12 human exomesNature2009 461272276

    Not in our library10.1038/nature08250

63. 63.

    Vilariño-Güell C Wider C Ross OA Dachsel JC Kachergus JM Lincoln SJ Soto-Ortolaza AI Cobb SA Wilhoite GJ Bacon JA Behrouz B Melrose HL Hentati E Puschmann A Evans DM Conibear E Wasserman WW Aasly JO Burkhard PR Djaldetti R Ghika J Hentati F Krygowska-Wajs A Lynch T Melamed E Rajput A Rajput AH Solida A Wu RM Uitti RJ VPS35 mutations in Parkinson diseaseAm J Hum Genet2011 89162167

    Not in our library10.1016/j.ajhg.2011.06.001

64. 64.

    Zimprich A Benet-Pagès A Struhal W Graf E Eck SH Offman MN Haubenberger D Spielberger S Schulte EC Lichtner P Rossle SC Klopp N Wolf E Seppi K Pirker W Presslauer S Mollenhauer B Katzenschlager R Foki T Hotzy C Reinthaler E Harutyunyan A Kralovics R Peters A Zimprich F Brücke T Poewe W Auff E Trenkwalder C Rost B A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson diseaseAm J Hum Genet2011 89168175

    Not in our library10.1016/j.ajhg.2011.06.008

65. 65.

    Lesage S Condroyer C Klebe S Honore A Tison F Brefel-Courbon C Durr A Brice A French Parkinson’s Disease Genetics Study GIdentification of VPS35 mutations replicated in French families with Parkinson diseaseNeurology2012 7814491450

    Not in our library10.1212/wnl.0b013e318253d5f2

66. 66.

    Ando M Funayama M Li Y Kashihara K Murakami Y Ishizu N Toyoda C Noguchi K Hashimoto T Nakano N Sasaki R Kokubo Y Kuzuhara S Ogaki K Yamashita C Yoshino H Hatano T Tomiyama H Hattori N VPS35 mutation in Japanese patients with typical Parkinson’s diseaseMov Disord2012 2714131417

    Not in our library10.1002/mds.25145

67. 67.

    Nuytemans K Bademci G Inchausti V Dressen A Kinnamon DD Mehta A Wang L Zuchner S Beecham GW Martin ER Scott WK Vance JM Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson diseaseNeurology2013 80982989

    Not in our library10.1212/wnl.0b013e31828727d4

68. 68.

    Di Fonzo A Dekker MC Montagna P Baruzzi A Yonova EH Correia Guedes L Szczerbinska A Zhao T Dubbel-Hulsman LO Wouters CH de Graaff E Oyen WJ Simons EJ Breedveld GJ Oostra BA Horstink MW Bonifati V FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndromeNeurology2009 72240245

    Not in our library10.1212/01.wnl.0000338144.10967.2b

69. 69.

    Haack TB Hogarth P Kruer MC Gregory A Wieland T Schwarzmayr T Graf E Sanford L Meyer E Kara E Cuno SM Harik SI Dandu VH Nardocci N Zorzi G Dunaway T Tarnopolsky M Skinner S Frucht S Hanspal E Schrander-Stumpel C Héron D Mignot C Garavaglia B Bhatia K Hardy J Strom TM Boddaert N Houlden HH Kurian MA Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIAAm J Hum Genet2012 9111441149

    Not in our library10.1016/j.ajhg.2012.10.019

70. 70.
    A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism · 2012

    No notice
71. 71.

    Korvatska O Strand NS Berndt JD Strovas T Chen DH Leverenz JB Kiianitsa K Mata IF Karakoc E Greenup JL Bonkowski E Chuang J Moon RT Eichler EE Nickerson DA Zabetian CP Kraemer BC Bird TD Raskind WH Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)Hum Mol Genet2013 2232593268

    Not in our library10.1093/hmg/ddt180

72. 72.

    Krebs CE Karkheiran S Powell JC Cao M Makarov V Darvish H Di Paolo G Walker RH Shahidi GA Buxbaum JD De Camilli P Yue Z Paisán-Ruiz C The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizuresHum Mutat2013 3412001207

    Not in our library10.1002/humu.22372

73. 73.

    Verkerk AJ Pieretti M Sutcliffe JS Fu YH Kuhl DP Pizzuti A Reiner O Richards S Victoria MF Zhang FP Eussen BE van Ommen GB Blonden LAJ Riggins GJ Chastain JL Kunst CB Galjaard H Caskey CT Nelson DL Oostra BA Warren ST Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndromeCell1991 65905914

    Not in our library10.1016/0092-8674(91)90397-h

74. 74.

    Green RC Berg JS Grody WW Kalia SS Korf BR Martin CL McGuire AL Nussbaum RL O’Daniel JM Ormond KE Rehm HL Watson MS Williams MS Biesecker LG American College of Medical Genetics and GenomicsACMG recommendations for reporting of incidental findings in clinical exome and genome sequencingGenet Med2013 15565574

    Not in our library10.1038/gim.2013.73

75. 75.

    Weischenfeldt J Symmons O Spitz F Korbel JO Phenotypic impact of genomic structural variation: insights from and for human diseaseNat Rev Genet2013 14125138

    Not in our library10.1038/nrg3373

76. 76.

    Yang Y Muzny DM Reid JG Bainbridge MN Willis A Ward PA Braxton A Beuten J Xia F Niu Z Hardison M Person R Bekheirnia MR Leduc MS Kirby A Pham P Scull J Wang M Ding Y Plon SE Lupski JR Beaudet AL Gibbs RA Eng CM Clinical whole-exome sequencing for the diagnosis of mendelian disordersN Engl J Med2013 36915021511

    Not in our library10.1056/nejmoa1306555

77. 77.

    Klein C Chuang R Marras C Lang AE The curious case of phenocopies in families with genetic Parkinson’s diseaseMov Disord2011 2617931802

    Not in our library10.1002/mds.23853

78. 78.

    Westphal CH Chandra SS Monomeric synucleins generate membrane curvatureJ Biol Chem2013 28818291840

    Not in our library10.1074/jbc.m112.418871

79. 79.

    Bartels T Choi JG Selkoe DJ alpha-Synuclein occurs physiologically as a helically folded tetramer that resists aggregationNature2011 477107110

    Not in our library10.1038/nature10324

80. 80.

    Lashuel HA Overk CR Oueslati A Masliah E The many faces of alpha-synuclein: from structure and toxicity to therapeutic targetNat Rev Neurosci2013 143848

    Not in our library10.1038/nrn3406

81. 81.

    Nakamura K Nemani VM Wallender EK Kaehlcke K Ott M Edwards RH Optical reporters for the conformation of alpha-synuclein reveal a specific interaction with mitochondriaJ Neurosci2008 281230512317

    Not in our library10.1523/jneurosci.3088-08.2008

82. 82.

    Boassa D Berlanga ML Yang MA Terada M Hu J Bushong EA Hwang M Masliah E George JM Ellisman MH Mapping the subcellular distribution of alpha-synuclein in neurons using genetically encoded probes for correlated light and electron microscopy: implications for Parkinson’s disease pathogenesisJ Neurosci2013 3326052615

    Not in our library10.1523/jneurosci.2898-12.2013

83. 83.

    Plowey ED Johnson JW Steer E Zhu W Eisenberg DA Valentino NM Liu YJ Chu CT Mutant LRRK2 enhances glutamatergic synapse activity and evokes excitotoxic dendrite degenerationBiochim Biophys Acta2014 doi: 10.1016/j.bbadis.2014.05.016

    Not in our library10.1016/j.bbadis.2014.05.016

84. 84.

    Parisiadou L Yu J Sgobio C Xie C Liu G Sun L Gu XL Lin X Crowley NA Lovinger DM Cai H LRRK2 regulates synaptogenesis and dopamine receptor activation through modulation of PKA activityNat Neurosci2014 17367376

    Not in our library10.1038/nn.3636

85. 85.

    MacLeod D Dowman J Hammond R Leete T Inoue K Abeliovich A The familial Parkinsonism gene LRRK2 regulates neurite process morphologyNeuron2006 52587593

    Not in our library10.1016/j.neuron.2006.10.008

86. 86.

    Dachsel JC Behrouz B Yue M Beevers JE Melrose HL Farrer MJ A comparative study of Lrrk2 function in primary neuronal culturesParkinsonism Relat Disord2010 16650655

    Not in our library10.1016/j.parkreldis.2010.08.018

87. 87.
    Adult neurogenesis and neurite outgrowth are impaired in LRRK2 G2019S mice · 2011

    Not checked
88. 88.

    Matta S Van Kolen K da Cunha R van den Bogaart G Mandemakers W Miskiewicz K De Bock PJ Morais VA Vilain S Haddad D Delbroek L Swerts J Chávez-Gutiérrez L Esposito G Daneels G Karran E Holt M Gevaert K Moechars DW De Strooper B Verstreken P LRRK2 controls an EndoA phosphorylation cycle in synaptic endocytosisNeuron2012 7510081021

    Not in our library10.1016/j.neuron.2012.08.022

89. 89.
    Functional interaction of Parkinson's disease-associated LRRK2 with members of the dynamin GTPase superfamily · 2013

    No notice
90. 90.

    Sakaguchi-Nakashima A Meir JY Jin Y Matsumoto K Hisamoto N LRK-1, a C. elegans PARK8-related kinase, regulates axonal-dendritic polarity of SV proteinsCurr Biol2007 17592598

    Not in our library10.1016/j.cub.2007.01.074

91. 91.

    Tong Y Shen J alpha-synuclein and LRRK2: partners in crimeNeuron2009 64771773

    Not in our library10.1016/j.neuron.2009.12.017

92. 92.

    Dzamko N Halliday GM An emerging role for LRRK2 in the immune systemBiochem Soc Trans2012 4011341139

    Not in our library10.1042/bst20120119

93. 93.

    Vilariño-Güell C Rajput A Milnerwood AJ Shah B Szu-Tu C Trinh J Yu I Encarnacion M Munsie LN Tapia L Gustavsson EK Chou P Tatarnikov I Evans DM Pishotta FT Volta M Beccano-Kelly D Thompson C Lin MK Sherman HE Han HJ Guenther BL Wasserman WW Bernard V Ross CJ Appel-Cresswell S Stoessl AJ Robinson CA Dickson DW Ross OA DNAJC13 mutations in Parkinson diseaseHum Mol Genet2014 2317941801

    Not in our library10.1093/hmg/ddt570

94. 94.

    Helfer E Harbour ME Henriot V Lakisic G Sousa-Blin C Volceanov L Seaman MN Gautreau A Endosomal recruitment of the WASH complex: active sequences and mutations impairing interaction with the retromerBiol Cell2013 105191207

    Not in our library10.1111/boc.201200038

95. 95.

    Seaman MN Gautreau A Billadeau DD Retromer-mediated endosomal protein sorting: all WASHed up!Trends Cell Biol2013 23522528

    Not in our library10.1016/j.tcb.2013.04.010

96. 96.

    MacLeod DA Rhinn H Kuwahara T Zolin A Di Paolo G McCabe BD Marder KS Honig LS Clark LN Small SA Abeliovich A RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson’s disease riskNeuron2013 77425439

    Not in our library10.1016/j.neuron.2012.11.033

97. 97.

    Settembre C Fraldi A Medina DL Ballabio A Signals from the lysosome: a control centre for cellular clearance and energy metabolismNat Rev Mol Cell Biol2013 14283296

    Not in our library10.1038/nrm3565

98. 98.

    Sidransky E Nalls MA Aasly JO Aharon-Peretz J Annesi G Barbosa ER Bar-Shira A Berg D Bras J Brice A Chen CM Clark LN Condroyer C De Marco EV Dürr A Eblan MJ Fahn S Farrer MJ Fung HC Gan-Or Z Gasser T Gershoni-Baruch R Giladi N Griffith A Gurevich T Januario C Kropp P Lang AE Lee-Chen GJ Lesage S Multicenter analysis of glucocerebrosidase mutations in Parkinson’s diseaseN Engl J Med2009 36116511661

    Not in our library10.1056/nejmoa0901281

99. 99.

    Bras J Singleton A Cookson MR Hardy J Emerging pathways in genetic Parkinson’s disease: potential role of ceramide metabolism in Lewy body diseaseFEBS J2008 27557675773

    Not in our library10.1111/j.1742-4658.2008.06709.x

100. 100.

     Mazzulli JR Xu YH Sun Y Knight AL McLean PJ Caldwell GA Sidransky E Grabowski GA Krainc D Gaucher disease glucocerebrosidase and alpha-synuclein form a bidirectional pathogenic loop in synucleinopathiesCell2011 1463752

     Not in our library10.1016/j.cell.2011.06.001

101. 101.

     Sardi SP Clarke J Viel C Chan M Tamsett TJ Treleaven CM Bu J Sweet L Passini MA Dodge JC Yu WH Sidman RL Cheng SH Shihabuddin LS Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathiesProc Natl Acad Sci U S A2013 11035373542

     Not in our library10.1073/pnas.1220464110

102. 102.

     Ramirez A Heimbach A Grundemann J Stiller B Hampshire D Cid LP Goebel I Mubaidin AF Wriekat AL Roeper J Al-Din A Hillmer AM Karsak M Liss B Woods CG Behrens MI Kubisch C Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPaseNat Genet2006 3811841191

     Not in our library10.1038/ng1884

103. 103.

     Schultheis PJ Fleming SM Clippinger AK Lewis J Tsunemi T Giasson B Dickson DW Mazzulli JR Bardgett ME Haik KL Ekhator O Chava AK Howard J Gannon M Hoffman E Chen Y Prasad V Linn SC Tamargo RJ Westbroek W Sidransky E Krainc D Shull GE Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited alpha-synuclein accumulation and age-dependent sensorimotor deficitsHum Mol Genet2013 2220672082

     Not in our library10.1093/hmg/ddt057

104. 104.

     Gregory A Hayflick S Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens KNeurodegeneration with brain iron accumulation disorders overviewGeneReviews1993-2014 Seattle: University of Washington136

     Not in our library

105. 105.

     Langston JW Ballard P Tetrud JW Irwin I Chronic Parkinsonism in humans due to a product of meperidine-analog synthesisScience1983 219979980

     Not in our library10.1126/science.6823561

106. 106.

     Keeney PM Xie J Capaldi RA Bennett JP Jr Parkinson’s disease brain mitochondrial complex I has oxidatively damaged subunits and is functionally impaired and misassembledJ Neurosci2006 2652565264

     Not in our library10.1523/jneurosci.0984-06.2006

107. 107.

     Spinazzola A Invernizzi F Carrara F Lamantea E Donati A Dirocco M Giordano I Meznaric-Petrusa M Baruffini E Ferrero I Zeviani M Clinical and molecular features of mitochondrial DNA depletion syndromesJ Inherit Metab Dis2009 32143158

     Not in our library10.1007/s10545-008-1038-z

108. 108.

     Dai Y Kiselak T Clark J Clore E Zheng K Cheng A Kujoth GC Prolla TA Maratos-Flier E Simon DK Behavioral and metabolic characterization of heterozygous and homozygous POLG mutator miceMitochondrion2013 13282291

     Not in our library10.1016/j.mito.2013.03.006

109. 109.

     Kitada T Asakawa S Hattori N Matsumine H Yamamura Y Minoshima S Yokochi M Mizuno Y Shimizu N Mutations in the parkin gene cause autosomal recessive juvenile parkinsonismNature1998 392605608

     Not in our library10.1038/33416

110. 110.

     Ko HS von Coelln R Sriram SR Kim SW Chung KK Pletnikova O Troncoso J Johnson B Saffary R Goh EL Song H Park BJ Kim MJ Kim S Dawson VL Dawson TM Accumulation of the authentic parkin substrate aminoacyl-tRNA synthetase cofactor, p38/JTV-1, leads to catecholaminergic cell deathJ Neurosci2005 2579687978

     Not in our library10.1523/jneurosci.2172-05.2005

111. 111.

     Fallon L Belanger CM Corera AT Kontogiannea M Regan-Klapisz E Moreau F Voortman J Haber M Rouleau G Thorarinsdottir T Brice A van Bergen En Henegouwen PM Fon EA A regulated interaction with the UIM protein Eps15 implicates parkin in EGF receptor trafficking and PI(3)K-Akt signallingNat Cell Biol2006 8834842

     Not in our library10.1038/ncb1441

112. 112.

     Staropoli JF McDermott C Martinat C Schulman B Demireva E Abeliovich A Parkin is a component of an SCF-like ubiquitin ligase complex and protects postmitotic neurons from kainate excitotoxicityNeuron2003 37735749

     Not in our library10.1016/s0896-6273(03)00084-9

113. 113.

     Burchell VS Nelson DE Sanchez-Martinez A Delgado-Camprubi M Ivatt RM Pogson JH Randle SJ Wray S Lewis PA Houlden H Abramov AY Hardy J Wood NW Whitworth AJ Laman H Plun-Favreau H The Parkinson’s disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagyNat Neurosci2013 1612571265

     Not in our library10.1038/nn.3489

114. 114.

     Park J Lee SB Lee S Kim Y Song S Kim S Bae E Kim J Shong M Kim JM Chung J Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkinNature2006 44111571161

     Not in our library10.1038/nature04788

115. 115.

     Clark IE Dodson MW Jiang C Cao JH Huh JR Seol JH Yoo SJ Hay BA Guo M Drosophila pink1 is required for mitochondrial function and interacts genetically with parkinNature2006 44111621166

     Not in our library10.1038/nature04779

116. 116.

     Trempe JF Sauve V Grenier K Seirafi M Tang MY Menade M Al-Abdul-Wahid S Krett J Wong K Kozlov G Nagar B Fon EA Gehring K Structure of parkin reveals mechanisms for ubiquitin ligase activationScience2013 34014511455

     Not in our library10.1126/science.1237908

117. 117.

     Koyano F Okatsu K Kosako H Tamura Y Go E Kimura M Kimura Y Tsuchiya H Yoshihara H Hirokawa T Endo T Fon EA Trempe JF Saeki Y Tanaka K Matsuda N Ubiquitin is phosphorylated by PINK1 to activate parkinNature2014 510162166

     Not in our library10.1038/nature13392

118. 118.

     Hasson SA Kane LA Yamano K Huang CH Sliter DA Buehler E Wang C Heman-Ackah SM Hessa T Guha R Martin SE Youle RJ High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagyNature2013 504291295

     Not in our library10.1038/nature12748

119. 119.

     McCoy MK Kaganovich A Rudenko IN Ding J Cookson MR Hexokinase activity is required for recruitment of parkin to depolarized mitochondriaHum Mol Genet2014 23145156

     Not in our library10.1093/hmg/ddt407

120. 120.

     Hajek P Chomyn A Attardi G Identification of a novel mitochondrial complex containing mitofusin 2 and stomatin-like protein 2J Biol Chem2007 28256705681

     Not in our library10.1074/jbc.m608168200

121. 121.
     The Mitochondrial Fusion-Promoting Factor Mitofusin Is a Substrate of the PINK1/Parkin Pathway · 2010

     No notice
122. 122.

     Rakovic A Grunewald A Voges L Hofmann S Orolicki S Lohmann K Klein C PINK1-interacting proteins: proteomic analysis of overexpressed PINK1Parkinsons Dis2011 2011153979

     Not in our library10.4061/2011/153979

123. 123.

     Bonifati V Rizzu P van Baren MJ Schaap O Breedveld GJ Krieger E Dekker MC Squitieri F Ibanez P Joosse M van Dongen JW Vanacore N van Swieten JC Brice A Meco G van Duijn CM Oostra BA Heutink P Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonismScience2003 299256259

     Not in our library10.1126/science.1077209

124. 124.

     Joselin AP Hewitt SJ Callaghan SM Kim RH Chung YH Mak TW Shen J Slack RS Park DS ROS-dependent regulation of Parkin and DJ-1 localization during oxidative stress in neuronsHum Mol Genet2012 2148884903

     Not in our library10.1093/hmg/dds325

125. 125.
     Parkinson Phenotype in Aged PINK1-Deficient Mice Is Accompanied by Progressive Mitochondrial Dysfunction in Absence of Neurodegeneration · 2009

     No notice
126. 126.

     Goldberg MS Pisani A Haburcak M Vortherms TA Kitada T Costa C Tong Y Martella G Tscherter A Martins A Bernardi G Roth BL Pothos EN Calabresi P Shen J Nigrostriatal dopaminergic deficits and hypokinesia caused by inactivation of the familial Parkinsonism-linked gene DJ-1Neuron2005 45489496

     Not in our library10.1016/j.neuron.2005.01.041

127. 127.

     Goldberg MS Fleming SM Palacino JJ Cepeda C Lam HA Bhatnagar A Meloni EG Wu N Ackerson LC Klapstein GJ Gajendiran M Roth BL Chesselet MF Maidment NT Levine MS Shen J Parkin-deficient mice exhibit nigrostriatal deficits but not loss of dopaminergic neuronsJ Biol Chem2003 2784362843635

     Not in our library10.1074/jbc.m308947200

128. 128.

     Shin JH Ko HS Kang H Lee Y Lee YI Pletinkova O Troconso JC Dawson VL Dawson TM PARIS (ZNF746) repression of PGC-1α contributes to neurodegeneration in Parkinson’s diseaseCell2011 144689702

     Not in our library10.1016/j.cell.2011.02.010

129. 129.

     Martin LJ Pan Y Price AC Sterling W Copeland NG Jenkins NA Price DL Lee MK Parkinson’s disease alpha-synuclein transgenic mice develop neuronal mitochondrial degeneration and cell deathJ Neurosci2006 264150

     Not in our library10.1523/jneurosci.4308-05.2006

130. 130.

     Cooper O Seo H Andrabi S Guardia-Laguarta C Graziotto J Sundberg M McLean JR Carrillo-Reid L Xie Z Osborn T Hargus G Deleidi M Lawson T Bogetofte H Perez-Torres E Clark L Moskowitz C Mazzulli J Chen L Volpicelli-Daley L Romero N Jiang H Uitti RJ Huang Z Opala G Scarffe LA Dawson VL Klein C Feng J Ross OA Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson’s diseaseSci Transl Med2012 4141ra190

     Not in our library10.1126/scitranslmed.3003985

131. 131.
     Dopaminergic Neuronal Loss, Reduced Neurite Complexity and Autophagic Abnormalities in Transgenic Mice Expressing G2019S Mutant LRRK2 · 2011

     No notice
132. 132.

     Wang X Yan MH Fujioka H Liu J Wilson-Delfosse A Chen SG Perry G Casadesus G Zhu X LRRK2 regulates mitochondrial dynamics and function through direct interaction with DLP1Hum Mol Genet2012 2119311944

     Not in our library10.1093/hmg/dds003

133. 133.

     Zhi D Chen R Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencingPLoS One2012 7e31358

     Not in our library10.1371/journal.pone.0031358

134. 134.

     Choy RW Park M Temkin P Herring BE Marley A Nicoll RA von Zastrow M Retromer mediates a discrete route of local membrane delivery to dendritesNeuron2014 825562

     Not in our library10.1016/j.neuron.2014.02.018

135. 135.

     Stocchi F Olanow CW Obstacles to the development of a neuroprotective therapy for Parkinson’s diseaseMov Disord2013 2837

     Not in our library10.1002/mds.25337

136. 136.

     Spillantini MG Schmidt ML Lee VM Trojanowski JQ Jakes R Goedert M Alpha-synuclein in Lewy bodiesNature1997 388839840

     Not in our library10.1038/42166

137. 137.

     Abbas N Lücking CB Ricard S Dürr A Bonifati V De Michele G Bouley S Vaughan JR Gasser T Marconi R Broussolle E Brefel-Courbon C Harhangi BS Oostra BA Fabrizio E Böhme GA Pradier L Wood NW Filla A Meco G Denefle P Agid Y Brice A A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson’s Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson’s DiseaseHum Mol Genet1999 8567574

     Not in our library10.1093/hmg/8.4.567

138. 138.

     van de Warrenburg BP Lammens M Lucking CB Denefle P Wesseling P Booij J Praamstra P Quinn N Brice A Horstink MW Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutationsNeurology2001 56555557

     Not in our library10.1212/wnl.56.4.555

139. 139.

     Farrer M Chan P Chen R Tan L Lincoln S Hernandez D Forno L Gwinn-Hardy K Petrucelli L Hussey J Singleton A Tanner C Hardy J Langston JW Lewy bodies and parkinsonism in families with parkin mutationsAnn Neurol2001 50293300

     Not in our library10.1002/ana.1132

140. 140.

     Krüger R Vieira-Saecker AM Kuhn W Berg D Müller T Kühnl N Fuchs GA Storch A Hungs M Woitalla D Przuntek H Epplen JT Schöls L Riess O Increased susceptibility to sporadic Parkinson’s disease by a certain combined alpha-synuclein/apolipoprotein E genotypeAnn Neurol1999 45611617

     Not in our library10.1002/1531-8249(199905)45:5<611::aid-ana9>3.0.co;2-x

141. 141.

     Maraganore DM Hernandez DG Singleton AB Farrer MJ McDonnell SK Hutton ML Hardy JA Rocca WA Case-control study of the extended tau gene haplotype in Parkinson’s diseaseAnn Neurol2001 50658661

     Not in our library10.1002/ana.1228

142. 142.

     Höglinger GU Melhem NM Dickson DW Sleiman PM Wang LS Klei L Rademakers R de Silva R Litvan I Riley DE van Swieten JC Heutink P Wszolek ZK Uitti RJ Vandrovcova J Hurtig HI Gross RG Maetzler W Goldwurm S Tolosa E Borroni B Pastor P Cantwell LB Han MR Dillman A van der Brug MP Gibbs JR Cookson MR Hernandez DG PSP Genetics Study GroupIdentification of common variants influencing risk of the tauopathy progressive supranuclear palsyNat Genet2011 43699705

     Not in our library10.1038/ng.859

143. 143.

     Farrer M Kachergus J Forno L Lincoln S Wang DS Hulihan M Maraganore D Gwinn-Hardy K Wszolek Z Dickson D Langston JW Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplicationsAnn Neurol2004 55174179

     Not in our library10.1002/ana.10846

144. 144.

     Chartier-Harlin MC Kachergus J Roumier C Mouroux V Douay X Lincoln S Levecque C Larvor L Andrieux J Hulihan M Waucquier N Defebvre L Amouyel P Farrer M Destée A alpha-synuclein locus duplication as a cause of familial Parkinson’s diseaseLancet2004 36411671169

     Not in our library10.1016/s0140-6736(04)17103-1

145. 145.

     Ibanez P Bonnet AM Debarges B Lohmann E Tison F Pollak P Agid Y Durr A Brice A Causal relation between alpha-synuclein gene duplication and familial Parkinson’s diseaseLancet2004 36411691171

     Not in our library10.1016/s0140-6736(04)17104-3

146. 146.

     Nishioka K Ross OA Ishii K Kachergus JM Ishiwata K Kitagawa M Kono S Obi T Mizoguchi K Inoue Y Imai H Takanashi M Mizuno Y Farrer MJ Hattori N Expanding the clinical phenotype of SNCA duplication carriersMov Disord2009 2418111819

     Not in our library10.1002/mds.22682

147. 147.

     Valente EM Abou-Sleiman PM Caputo V Muqit MM Harvey K Gispert S Ali Z Del Turco D Bentivoglio AR Healy DG Albanese A Nussbaum R González-Maldonado R Deller T Salvi S Cortelli P Gilks WP Latchman DS Harvey RJ Dallapiccola B Auburger G Wood NW Hereditary early-onset Parkinson’s disease caused by mutations in PINK1Science2004 30411581160

     Not in our library10.1126/science.1096284

148. 148.

     Kachergus J Mata IF Hulihan M Taylor JP Lincoln S Aasly J Gibson JM Ross OA Lynch T Wiley J Payami H Nutt J Maraganore DM Czyzewski K Styczynska M Wszolek ZK Farrer MJ Toft M Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populationsAm J Hum Genet2005 76672680

     Not in our library10.1086/429256

149. 149.

     Chartier-Harlin MC Dachsel JC Vilariño-Güell C Lincoln SJ Leprêtre F Hulihan MM Kachergus J Milnerwood AJ Tapia L Song MS Le Rhun E Mutez E Larvor L Duflot A Vanbesien-Mailliot C Kreisler A Ross OA Nishioka K Soto-Ortolaza AI Cobb SA Melrose HL Behrouz B Keeling BH Bacon JA Hentati E Williams L Yanagiya A Sonenberg N Lockhart PJ Zubair AC Translation initiator EIF4G1 mutations in familial Parkinson diseaseAm J Hum Genet2011 89398406

     Not in our library10.1016/j.ajhg.2011.08.009

150. 150.
     Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database · 2012

     No notice
151. 151.

     Hatano Y Li Y Sato K Asakawa S Yamamura Y Tomiyama H Yoshino H Asahina M Kobayashi S Hassin-Baer S Lu CS Ng AR Rosales RL Shimizu N Toda T Mizuno Y Hattori N Novel PINK1 mutations in early-onset parkinsonismAnn Neurol2004 56424427

     Not in our library10.1002/ana.20251

152. 152.

     Paisan-Ruiz C Bhatia KP Li A Hernandez D Davis M Wood NW Hardy J Houlden H Singleton A Schneider SA Characterization of PLA2G6 as a locus for dystonia-parkinsonismAnn Neurol2009 651923

     Not in our library10.1002/ana.21415

153. 153.

     Lee HJ Suk JE Bae EJ Lee JH Paik SR Lee SJ Assembly-dependent endocytosis and clearance of extracellular alpha-synucleinInt J Biochem Cell Biol2008 4018351849

     Not in our library10.1016/j.biocel.2008.01.017

Cited by papers we hold 4

• NLRP3 expression in mesencephalic neurons and characterization of a rare NLRP3 polymorphism associated with decreased risk of Parkinson’s disease · 2018
  No notice
• ER–mitochondria signaling in Parkinson’s disease · 2018
  No notice
• Advances in the delivery of RNA therapeutics: from concept to clinical reality · 2017
  No notice
• The role of Ca2+ signaling in Parkinson's disease · 2017
  No notice

Reads

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