The genetics of Parkinson disease
Abstract
About 15% of patients with Parkinson disease (PD) have family history and 5-10% have a monogenic form of the disease with Mendelian inheritance. To date, at least 23 loci and 19 disease-causing genes for parkinsonism have been found, but many more genetic risk loci and variants for sporadic PD phenotype have been identified in various association studies. Investigating the mutated protein products has uncovered potential pathogenic pathways that provide insights into mechanisms of neurodegeneration in familial and sporadic PD. To commemorate the 200th anniversary of Parkinson's publication of An Essay on the Shaking Palsy, we provide a comprehensive and critical overview of the current clinical, neuropathological, and genetic understanding of genetic forms of PD. We also discuss advances in screening for genetic PD-related risk factors and how they impact genetic counseling and contribute to the development of potential disease-modifying therapies.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Parkinson's disease is the second most common neurodegenerative disease, affecting 1.2% of individuals over age 65; most cases are sporadic and 5-10% are inherited.
“Parkinson’s disease (PD) is the second most common neurodegenerative disease, affecting 1.2% of individuals over age 65. Most cases are sporadic and 5–10% are inherited58.”
From Microglia in neurodegeneration (2018) · cites this paper as [58]
Cites
Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
Polymeropoulos, M. H., Lavedan, C., Leroy, E., Ide, S. E., Dehejia, A., Dutra, A., Pike, B., Root, H., Rubenstein, J., Boyer, R., et al. (1997) · Science · doi:10.1126/science.276.5321.2045 · Cited by 8,240 · see citing works
Poewe, W., Seppi, K., Tanner, C. M., Halliday, G. M., Brundin, P., Volkmann, J., Schrag, A.-E., & Lang, A. E. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.13 · Cited by 5,415 · see citing works
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
Kitada, T., Asakawa, S., Hattori, N., Matsumine, H., Yamamura, Y., Minoshima, S., Yokochi, M., Mizuno, Y., & Shimizu, N. (1998) · Nature · doi:10.1038/33416 · Cited by 5,227 · see citing works
α-Synuclein Locus Triplication Causes Parkinson's Disease
Singleton, A. B., Farrer, M., Johnson, J., Singleton, A., Hague, S., Kachergus, J., Hulihan, M., Peuralinna, T., Dutra, A., Nussbaum, R., et al. (2003) · Science · doi:10.1126/science.1090278 · Cited by 4,383 · see citing works
AlaSOPro mutation in the gene encoding α-synuclein in Parkinson's disease
Krüger, R., Kuhn, W., Müller, T., Woitalla, D., Graeber, M., Kösel, S., Przuntek, H., Epplen, J. T., Schols, L., & Riess, O. (1998) · Nature Genetics · doi:10.1038/ng0298-106 · Cited by 3,836 · see citing works
Hereditary Early-Onset Parkinson's Disease Caused by Mutations in <i>PINK1</i>
Valente, E. M., Abou-Sleiman, P. M., Caputo, V., Muqit, M. M. K., Harvey, K., Gispert, S., Ali, Z., Del Turco, D., Bentivoglio, A. R., Healy, D. G., et al. (2004) · Science · doi:10.1126/science.1096284 · Cited by 3,481 · see citing works
Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology
Zimprich, A. A., Biskup, S., Leitner, P., Lichtner, P., Farrer, M. J., Lincoln, S., Kachergus, J. M., Hulihan, M., Uitti, R. J., Calne, D. B., et al. (2004) · Neuron · doi:10.1016/j.neuron.2004.11.005 · Cited by 3,024 · see citing works
Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism
Bonifati, V., Rizzu, P., van Baren, M. J., Schaap, O., Breedveld, G. J., Krieger, E., Dekker, M. C. J., Squitieri, F., Ibáñez, P., Joosse, M., et al. (2003) · Science · doi:10.1126/science.1077209 · Cited by 2,800 · see citing works
The new mutation, E46K, of α‐synuclein causes parkinson and Lewy body dementia
Zarranz, J. J., Alegre, J., Gómez‐Esteban, J. C., Lezcano, E., Ros, R., Ampuero, I., Vidal, L., Hoenicka, J., Rodriguez, O., Atarés, B., et al. (2004) · Annals of Neurology · doi:10.1002/ana.10795 · Cited by 2,737 · see citing works
Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease
Paisán‐Ruiz, C., Jain, S., Evans, E. W., Gilks, W. P., Simón, J., van der Brug, M., de Munaín, A. L., Aparicio, S. F., Gil, A. M., Khan, N. L., et al. (2004) · Neuron · doi:10.1016/j.neuron.2004.10.023 · Cited by 2,416 · see citing works
International Parkinson's Disease Genomics Consortium (IPDGC), Nalls, M. A., Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI), 23andMe, GenePD, NeuroGenetics Research Consortium (NGRC), Hussman Institute of Human Genomics (HIHG), Investigator, T. A. J. D., (CHARGE), C. F. H. A. A. R. I. G. E., North American Brain Expression Consortium (NABEC), et al. (2014) · Nature Genetics · doi:10.1038/ng.3043 · Cited by 1,895 · see citing works
The ubiquitin pathway in Parkinson's disease
Leroy, E., Boyer, R., Auburger, G. W. J., Leube, B., Ulm, G., Mezey, É., Harta, G., Brownstein, M., Jonnalagada, S., Chernova, T., et al. (1998) · Nature · doi:10.1038/26652 · Cited by 1,572 · see citing works
Healy, D. G., Falchi, M., O’Sullivan, S. S., Bonifati, V., Dürr, A., Bressman, S., Brice, A., Aasly, J. O., Zabetian, C. P., Goldwurm, S., et al. (2008) · The Lancet Neurology · doi:10.1016/s1474-4422(08)70117-0 · Cited by 1,523 · see citing works
Satake, W., Nakabayashi, Y., Mizuta, I., Hirota, Y., Ito, C., Kubo, M., Kawaguchi, T., Tsunoda, T., Watanabe, M., Takeda, A., et al. (2009) · Nature Genetics · doi:10.1038/ng.485 · Cited by 1,308 · see citing works
Ramirez, A., Heimbach, A., Gründemann, J., Stiller, B., Hampshire, D., Cid, L. P., Goebel, I., Mubaidin, A. F., Wriekat, A.-L., Roeper, J., et al. (2006) · Nature Genetics · doi:10.1038/ng1884 · Cited by 1,208 · see citing works
Causal relation between α-synuclein locus duplication as a cause of familial Parkinson's disease
Ibáñez, P., Bonnet, A. M., Débarges, B., Lohmann, E., Tison, F., Agid, Y., Dürr, A., Brice, A., & Pollak, P. (2004) · The Lancet · doi:10.1016/s0140-6736(04)17104-3 · Cited by 1,042 · see citing works
Parkinson's disease: from monogenic forms to genetic susceptibility factors
Lesage, S., & Brice, A. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp012 · Cited by 946 · see citing works
Parkin-deficient Mice Exhibit Nigrostriatal Deficits but Not Loss of Dopaminergic Neurons
Goldberg, M. S., Fleming, S. M., Palacino, J. J., Cepeda, C., Lam, H. A., Bhatnagar, A., Meloni, E. G., Wu, N., Ackerson, L. C., Klapstein, G. J., et al. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m308947200 · Cited by 913 · see citing works
A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease
Zimprich, A. A., Benet‐Pagès, A., Struhal, W., Graf, E., Eck, S. H., Offman, M. N., Haubenberger, D., Spielberger, S., Schulte, E. C., Lichtner, P., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.06.008 · Cited by 885 · see citing works
VPS35 Mutations in Parkinson Disease
Vilariño‐Güell, C., Wider, C. W., Ross, O. A., Dächsel, J. C., Kachergus, J. M., Lincoln, S., Soto‐Ortolaza, A. I., Cobb, S. A., Wilhoite, G. J., Bacon, J. A., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.06.001 · Cited by 877 · see citing works
Obeso, J. A., Stamelou, M., Goetz, C. G., Poewe, W., Lang, A. E., Weintraub, D., Burn, D., Halliday, G. M., Bezard, E., Przedborski, S., et al. (2017) · Movement Disorders · doi:10.1002/mds.27115 · Cited by 859 · see citing works
Self-citationEssential Role of Phosphoinositide Metabolism in Synaptic Vesicle Recycling
Cremona, O., Paolo, G. D., Wenk, M. R., Lüthi, A., Kim, W. T., Takei, K., DANIELL, L. W., Nemoto, Y., Shears, S. B., Flavell, R. A., et al. (1999) · Cell · doi:10.1016/s0092-8674(00)81649-9 · Cited by 836 · see citing works
Mapping of a gene for Parkinson's disease to chromosome 4q21-q23
Polymeropoulos, M. H., Higgins, J. J., Golbe, L. I., Johnson, W. G., Ide, S. E., Di Iorio, G., Sanges, G., Stenroos, E. S., Pho, L. T., Schaffer, A. A., et al. (1996) · Science · doi:10.1126/science.274.5290.1197 · Cited by 788 · see citing works
G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndrome
Lesage, S., Anheim, M., Letournel, F., Bousset, L., Honoré, A., Rozas, N., Pieri, L., Madiona, K., Dürr, A., Melki, R., et al. (2013) · Annals of Neurology · doi:10.1002/ana.23894 · Cited by 697 · see citing works
Alpha‐synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease
Appel‐Cresswell, S., Vilariño‐Güell, C., Encarnacion, M. J., Sherman, H. E., Yu, I. S., Shah, B., Weir, D. M., Thompson, C., Szu‐Tu, C., Trinh, J., et al. (2013) · Movement Disorders · doi:10.1002/mds.25421 · Cited by 669 · see citing works
A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2–q13.1
Funayama, M., Hasegawa, K., Kowa, H., Saito, M., Tsuji, S., & Obata, F. (2002) · Annals of Neurology · doi:10.1002/ana.10113 · Cited by 666 · see citing works
What Genetics Tells us About the Causes and Mechanisms of Parkinson's Disease
Corti, O., Lesage, S., & Brice, A. (2011) · Physiological Reviews · doi:10.1152/physrev.00022.2010 · Cited by 610 · see citing works
The link between the GBA gene and parkinsonism
Sidransky, E., & Lopez, G. J. (2012) · The Lancet Neurology · doi:10.1016/s1474-4422(12)70190-4 · Cited by 586 · see citing works
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease
Strauss, K. M., Martins, L. M., Plun‐Favreau, H., Marx, F. P., Kautzmann, S., Berg, D., Gasser, T., Wszolek, Z., Müller, T. H., Bornemann, A., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi215 · Cited by 569 · see citing works
Pasanen, P., Myllykangas, L., Siitonen, M., Raunio, A., Kaakkola, S., Lyytinen, J., Tienari, P. J., Pöyhönen, M., & Paetau, A. E. (2014) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.03.024 · Cited by 535 · see citing works
Gitler, A. D., Chesi, A., Geddie, M. L., Strathearn, K. E., Hamamichi, S., Hill, K. J., Caldwell, K. A., Caldwell, G. A., Cooper, A. A., Rochet, J., et al. (2009) · Nature Genetics · doi:10.1038/ng.300 · Cited by 535 · see citing works
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
Morgan, N. V., Westaway, S. K., Morton, J. E. V., Gregory, A., Gissen, P., Sonek, S., Cangül, H., Coryell, J. C., Canham, N. L. E., Nardocci, N., et al. (2006) · Nature Genetics · doi:10.1038/ng1826 · Cited by 532 · see citing works
Thenganatt, M. A., & Jankovic, J. J. (2014) · JAMA Neurology · doi:10.1001/jamaneurol.2013.6233 · Cited by 510 · see citing works
Self-citationCollaborative Analysis of α-Synuclein Gene Promoter Variability and Parkinson Disease
Maraganore, D. M. (2006) · JAMA · doi:10.1001/jama.296.6.661 · Cited by 508 · see citing works
Valente, E. M., Bentivoglio, A. R., Dixon, P. H., Ferraris, A., Ialongo, T., Frontali, M., Albanese, A., & Wood, N. W. (2001) · The American Journal of Human Genetics · doi:10.1086/319522 · Cited by 493 · see citing works
Characterization of PLA2G6 as a locus for dystonia‐parkinsonism
Paisán‐Ruiz, C., Bhatia, K. P., Li, A., Hernandez, D. G., Davis, M. B., Wood, N. W., Hardy, J., Houlden, H., Singleton, A., & Schneider, S. A. (2008) · Annals of Neurology · doi:10.1002/ana.21415 · Cited by 479 · see citing works
A novel α-synuclein missense mutation in Parkinson disease
Proukakis, C., Dudzik, C. G., Brier, T., Mackay, D. S., Cooper, J. A. D., Millhauser, G. L., Houlden, H., & Schapira, A. H. V. (2013) · Neurology · doi:10.1212/wnl.0b013e31828727ba · Cited by 465 · see citing works
A susceptibility locus for Parkinson's disease maps to chromosome 2p13
Gasser, T., Müller‐Myhsok, B., Wszołek, Z. K., Oehlmann, R., Calne, D. B., Bonifati, V., Bereznai, B., Fabrizio, E., Vieregge, P., & Horstmann, R. D. (1998) · Nature Genetics · doi:10.1038/ng0398-262 · Cited by 456 · see citing works
Kiely, A. P., Asi, Y. T., Kara, E., Limousin, P. D., Ling, H., Lewis, P. A., Proukakis, C., Quinn, N. P., Lees, A. J., Hardy, J., et al. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1096-7 · Cited by 450 · see citing works
Lesage, S., Drouet, V., Majounie, E., Deramecourt, V., Jacoupy, M., Nicolas, A., Cormier‐Dequaire, F., Hassoun, S. M., Pujol, C., Ciura, S., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.01.014 · Cited by 438 · see citing works
Survival and dementia in GBA ‐associated Parkinson's disease: T he mutation matters
Cilia, R., Tùnesi, S., Marotta, G., Cereda, E., Siri, C., Tesei, S., Zecchinelli, A., Canesi, M., Mariani, C. B., Meucci, N., et al. (2016) · Annals of Neurology · doi:10.1002/ana.24777 · Cited by 407 · see citing works
Exploring Braak’s hypothesis of Parkinson’s disease
Rietdijk, C. D., Perez-Pardo, P., Garssen, J., van Wezel, R. J. A., & Kraneveld, A. D. (2017) · Frontiers in Neurology · doi:10.3389/fneur.2017.00037 · Cited by 395 · see citing works
Parkinson's disease: Autoimmunity and neuroinflammation
VIRGILIO, A. D., Greco, A., Fabbrini, G., Inghilleri, M., Rizzo, M. I., Gallo, A., Conte, M., Rosato, C., Appiani, M. C., & VINCENTIIS, M. D. (2016) · Autoimmunity Reviews · doi:10.1016/j.autrev.2016.07.022 · Cited by 391 · see citing works
The role of pathogenic DJ‐1 mutations in Parkinson's disease
Abou‐Sleiman, P. M., Healy, D. G., Quinn, N. P., Lees, A. J., & Wood, N. W. (2003) · Annals of Neurology · doi:10.1002/ana.10675 · Cited by 381 · see citing works
PARK7, a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, on Chromosome 1p36
van Duijn, C. M., Dekker, M. C. J., Bonifati, V., Galjaard, R. H., Houwing‐Duistermaat, J. J., Snijders, P. J. L. M., Testers, L., Breedveld, G. J., Horstink, M. W. I. M., Sandkuijl, L. A., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/322996 · Cited by 378 · see citing works
Braak, H., & Del Tredici, K. (2017) · Journal of Parkinson’s Disease · doi:10.3233/jpd-179001 · Cited by 372 · see citing works
Matsumine, H., Saito, M., Shimoda‐Matsubayashi, S., Tanaka, H., Ishikawa, A., Nakagawa-Hattori, Y., Yokochi, M., Kobayashi, T., Igarashi, S., Takano, H., et al. (1997) · Europe PMC (PubMed Central) · Cited by 371 · see citing works
Differential effects of severe vs mild GBA mutations on Parkinson disease
Gan‐Or, Z., Amshalom, I., Kilarski, L. L., Bar‐Shira, A., Gana‐Weisz, M., Mirelman, A., Marder, K. S., Bressman, S., Giladi, N., & Orr‐Urtreger, A. (2015) · Neurology · doi:10.1212/wnl.0000000000001315 · Cited by 366 · see citing works
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
Fonzo, A. D., Dekker, M. C. J., Montagna, P., Baruzzi, A., Yonova, E. H., Guedes, L. C., Szczerbińska, A., Zhao, T., Dubbel, L., Wouters, C. H., et al. (2008) · Neurology · doi:10.1212/01.wnl.0000338144.10967.2b · Cited by 363 · see citing works
Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., et al. (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70266-2 · Cited by 351 · see citing works
Krebs, C. E., Karkheiran, S., Powell, J., Cao, M., Makarov, V., Darvish, H., Paolo, G. D., Walker, R. H., Shahidi, G. A., Buxbaum, J. D., et al. (2013) · Human Mutation · doi:10.1002/humu.22372 · Cited by 336 · see citing works
Mutation in theSYNJ1Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism
Quadri, M., Fang, M., Picillo, M., Olgiati, S., Breedveld, G. J., Graafland, J., Wu, B., Xu, F., Erro, R., Amboni, M., et al. (2013) · Human Mutation · doi:10.1002/humu.22373 · Cited by 320 · see citing works
Edvardson, S., Cinnamon, Y., Ta‐Shma, A., Shaag, A., Yim, Y.-I., Zenvirt, S., Jalas, C., Lesage, S., Brice, A., Taraboulos, A., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0036458 · Cited by 318 · see citing works
DNAJC13 mutations in Parkinson disease
Vilariño‐Güell, C., Rajput, A. H., Milnerwood, A. J., Shah, B., Szu‐Tu, C., Trinh, J., Yu, I. S., Encarnacion, M. J., Munsie, L. N., Tapia, L., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt570 · Cited by 313 · see citing works
Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease
Chartier‐Harlin, M., Dächsel, J. C., Vilariño‐Güell, C., Lincoln, S., Leprêtre, F., Hulihan, M., Kachergus, J. M., Milnerwood, A. J., Tapia, L., Song, M.-S., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.08.009 · Cited by 298 · see citing works
The genetic background of Parkinson's disease: current progress and future prospects
Kalinderi, K., Bostantjopoulou, S., & Fidani, L. (2016) · Acta Neurologica Scandinavica · doi:10.1111/ane.12563 · Cited by 280 · see citing works
Gray, C. W., Ward, R. V., Karran, E. H., Turconi, S., Rowles, A., Viglienghi, D., Southan, C., BARTON, A. J. L., Fantom, K. G. M., West, A., et al. (2000) · European Journal of Biochemistry · doi:10.1046/j.1432-1327.2000.01589.x · Cited by 278 · see citing works
A susceptibility gene for late‐onset idiopathic Parkinson's disease
Hicks, A. A., Pétursson, H., Jónsson, T., Stefánsson, H., Johannsdottir, H., Sainz, J., Frigge, M. L., Kong, A., Gulcher, J. R., Stefánsson, K., et al. (2002) · Annals of Neurology · doi:10.1002/ana.10324 · Cited by 260 · see citing works
Genome-wide Linkage Analysis of a Parkinsonian-Pyramidal Syndrome Pedigree by 500 K SNP Arrays
Shojaee, S., Sina, F., Banihosseini, S. S., Kazemi, M., Kalhor, R., Shahidi, G. A., Fakhrai-Rad, H., Ronaghi, M., & Elahi, E. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.05.005 · Cited by 257 · see citing works
Seirafi, M., Kozlov, G., & Gehring, K. (2015) · The FEBS Journal · doi:10.1111/febs.13249 · Cited by 256 · see citing works
A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor
Farrer, M. J. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.1.81 · Cited by 249 · see citing works
Henry, A. G., Aghamohammadzadeh, S., Samaroo, H., Chen, Y., Mou, K., Needle, E., & Hirst, W. D. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv314 · Cited by 235 · see citing works
Comparison of Parkinson Risk in Ashkenazi Jewish Patients With Gaucher Disease andGBAHeterozygotes
Alcalay, R. N., Dinur, T., Quinn, T., Sakanaka, K., Levy, O., Waters, C., Fahn, S., Dorovski, T., Chung, W. K., Pauciulo, M. W., et al. (2014) · JAMA Neurology · doi:10.1001/jamaneurol.2014.313 · Cited by 216 · see citing works
Autosomal dominant Parkinson's disease caused by SNCA duplications
Konno, T., Ross, O. A., Puschmann, A., Dickson, D. W., & Wszołek, Z. K. (2015) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2015.09.007 · Cited by 210 · see citing works
Loss ofPLA2G6leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction
Kinghorn, K. J., Castillo-Quan, J. I., Bartolomé, F. B., Angelova, P. R., Li, L., Pope, S. A. S., Cochemé, H. M., Khan, S., Asghari, S., Bhatia, K. P., et al. (2015) · Brain · doi:10.1093/brain/awv132 · Cited by 197 · see citing works
D NAJC 6 M utations A ssociated W ith E arly‐ O nset P arkinson's D isease
Olgiati, S., Quadri, M., Fang, M., Rood, J. P. M. A., Saute, J. A. M., Chien, H. F., Bouwkamp, C. G., Graafland, J., Minneboo, M., Breedveld, G. J., et al. (2015) · Annals of Neurology · doi:10.1002/ana.24553 · Cited by 197 · see citing works
DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability
Köroğlu, Ç., Baysal-Kıraç, L., Çetinkaya, M., Karasoy, H., & Tolun, A. (2012) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2012.11.006 · Cited by 190 · see citing works
Mutations in the GIGYF2 (TNRC15) Gene at the PARK11 Locus in Familial Parkinson Disease
Lautier, C., Goldwurm, S., Dürr, A., Giovannone, B., Tsiaras, W. G., Pezzoli, G., Brice, A., & Smith, R. J. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.01.015 · Cited by 177 · see citing works
Parkinson’s Disease Genes VPS35 and EIF4G1 Interact Genetically and Converge on α-Synuclein
Dhungel, N., Eleuteri, S., Li, L.-B., Kramer, N. J., Chartron, J. W., Spencer, B. J., Kosberg, K. A., Fields, J. A., Stafa, K., Adame, A., et al. (2014) · Neuron · doi:10.1016/j.neuron.2014.11.027 · Cited by 176 · see citing works
Identification of TMEM230 mutations in familial Parkinson's disease
Deng, H., Shi, Y., Yang, Y., Ahmeti, K., Miller, N., Huang, C., Cheng, L., Zhai, H., Deng, S., Nuytemans, K., et al. (2016) · Nature Genetics · doi:10.1038/ng.3589 · Cited by 171 · see citing works
Self-citationLRRK2 pathobiology in Parkinson's disease
Martin, I., Kim, J. W., Dawson, V. L., & Dawson, T. M. (2014) · Journal of Neurochemistry · doi:10.1111/jnc.12949 · Cited by 168 · see citing works
An updated review of Parkinson's disease genetics and clinicopathological correlations
Ferreira, M., & Massano, J. (2017) · Acta Neurologica Scandinavica · doi:10.1111/ane.12616 · Cited by 167 · see citing works
Significant Linkage of Parkinson Disease to Chromosome 2q36-37
Pankratz, N., Nichols, W. C., Uniacke, S. K., Halter, C. A., Rudolph, A., Shults, C. W., Conneally, P. M., & Foroud, T. (2003) · The American Journal of Human Genetics · doi:10.1086/374383 · Cited by 161 · see citing works
α-Synuclein-Based Animal Models of Parkinson's Disease: Challenges and Opportunities in a New Era
Visanji, N. P., Brotchie, J. M., Kalia, L. V., Koprich, J. B., Tandon, A., Watts, J. C., & Lang, A. E. (2016) · Trends in Neurosciences · doi:10.1016/j.tins.2016.09.003 · Cited by 161 · see citing works
Sánchez-Martínez, Á., Beavan, M. S., Gegg, M. E., Chau, K., Whitworth, A. J., & Schapira, A. H. V. (2016) · Scientific Reports · doi:10.1038/srep31380 · Cited by 158 · see citing works
Familial parkinsonism with synuclein pathology
Krüger, R., Kuhn, W., Leenders, K. L., Sprengelmeyer, R., Müller, T., Woitalla, D., Portman, A. T., Maguire, R. P., Veenma, L., Schröder, U., et al. (2001) · Neurology · doi:10.1212/wnl.56.10.1355 · Cited by 154 · see citing works
Endocytosis and clathrin-uncoating defects at synapses of auxilin knockout mice
Yim, Y.-I., Sun, T., Wu, L., Raimondi, A., Camilli, P. V. D., Eisenberg, E., & Greene, L. E. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1000738107 · Cited by 150 · see citing works
Pankratz, N. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg270 · Cited by 148 · see citing works
The Central Theme of Parkinson’s Disease: α-Synuclein
Ozansoy, M., & Başak, A. N. (2012) · Molecular Neurobiology · doi:10.1007/s12035-012-8369-3 · Cited by 137 · see citing works
Diagnosis and Management of Parkinson's Disease
Jankovic, J. J., & Tarakad, A. (2017) · Seminars in Neurology · doi:10.1055/s-0037-1601888 · Cited by 132 · see citing works
Self-citationPatients Homozygous and Heterozygous for SNCA Duplication in a Family With Parkinsonism and Dementia
Ikeuchi, T., Kakita, A., Shiga, A., Kasuga, K., Kaneko, H., Tan, C., Idezuka, J., Wakabayashi, K., Onodera, O., Iwatsubo, T., et al. (2008) · Archives of Neurology · doi:10.1001/archneur.65.4.514 · Cited by 130 · see citing works
Kiely, A. P., Ling, H., Asi, Y. T., Kara, E., Proukakis, C., Schapira, A. H. V., Morris, H. R., Roberts, H. C., Lubbe, S. J., Limousin, P. D., et al. (2015) · Molecular Neurodegeneration · doi:10.1186/s13024-015-0038-3 · Cited by 124 · see citing works
Epigenetic mechanisms in Parkinson's disease
Feng, Y., Jankovic, J. J., & Wu, Y. (2014) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2014.12.017 · Cited by 120 · see citing works
Self-citationAugmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation
Fishbein, I., Kuo, Y., Giasson, B. I., & Nussbaum, R. L. (2014) · Brain · doi:10.1093/brain/awu291 · Cited by 117 · see citing works
Lincoln, S., Vaughan, J. R., Wood, N., Baker, M. C., Adamson, J. L., Gwinn, K. A., Lynch, T., Hardy, J., & Farrer, M. J. (1999) · Neuroreport · doi:10.1097/00001756-199902050-00040 · Cited by 115 · see citing works
Bogaerts, V., Nuytemans, K., Reumers, J., Pals, P., Engelborghs, S., Pickut, B. A., Corsmit, E., Peeters, K., Schymkowitz, J. W. H., Deyn, P. P. D., et al. (2008) · Human Mutation · doi:10.1002/humu.20713 · Cited by 111 · see citing works
Cronin, K. D., Ge, D., Manninger, P., Linnertz, C. L., Rossoshek, A., Orrison, B. M., Bernard, D. J., El‐Agnaf, O. M. A., Schlossmacher, M. G., Nussbaum, R. L., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp265 · Cited by 109 · see citing works
UCHL‐1 is not a Parkinson's disease susceptibility gene
Healy, D. G., Abou‐Sleiman, P. M., Casas, J. P., Ahmadi, K. R., Lynch, T., Gandhi, S., Muqit, M. M. K., Foltynie, T., Barker, R. A., Bhatia, K. P., et al. (2006) · Annals of Neurology · doi:10.1002/ana.20757 · Cited by 109 · see citing works
van der Merwe, C., Dashti, Z. J. S., Christoffels, A. G., Loos, B., & Bardien, S. (2015) · European Journal of Neuroscience · doi:10.1111/ejn.12872 · Cited by 106 · see citing works
Kazlauskaite, A., & Muqit, M. M. K. (2014) · FEBS Journal · doi:10.1111/febs.13127 · Cited by 106 · see citing works
Dagda, R. K., & Chu, C. T. (2009) · Journal of Bioenergetics and Biomembranes · doi:10.1007/s10863-009-9255-1 · Cited by 102 · see citing works
Kett, L. R., Stiller, B., Bernath, M. M., Tasset, I., Blesa, J., Jackson-Lewis, V. R., Chan, R., Zhou, B., Paolo, G. D., Przedborski, S., et al. (2015) · Journal of Neuroscience · doi:10.1523/jneurosci.0632-14.2015 · Cited by 100 · see citing works
A lipid switch unlocks Parkinson’s disease-associated ATP13A2
Holemans, T., Sørensen, D. M., van Veen, S., Martin, S., Hermans, D., Kemmer, G. C., den Haute, C. V., Baekelandt, V., Pomorski, T. G., Agostinis, P., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1508220112 · Cited by 97 · see citing works
Impairment of PARK14-dependent Ca2+ signalling is a novel determinant of Parkinson’s disease
Zhou, Q., Yen, A., Rymarczyk, G., Asai, H., Trengrove, C., Aziz, N. M., Kirber, M. T., Mostoslavsky, G., Ikezu, T., Wolozin, B. L., et al. (2016) · Nature Communications · doi:10.1038/ncomms10332 · Cited by 96 · see citing works
A “dose” effect of mutations in the GBA gene on Parkinson's disease phenotype
Thaler, A., Gurevich, T., Shira, A. B., et al. (2016) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2016.12.014 · Cited by 96 · see citing works
Islam, M. S., Nolte, H., Jacob, W., Ziegler, A. B., Pütz, S., Grosjean, Y., Szczepanowska, K., Trifunović, A., Braun, T. W., Heumann, H., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw352 · Cited by 94 · see citing works
The VPS35 gene and Parkinson's disease
Deng, H., Gao, K., & Jankovic, J. J. (2013) · Movement Disorders · doi:10.1002/mds.25430 · Cited by 92 · see citing works
Self-citationGenetic variants and animal models in SNCA and Parkinson disease
Deng, H., & Yuan, L. (2014) · Ageing Research Reviews · doi:10.1016/j.arr.2014.04.002 · Cited by 89 · see citing works
Self-citationMalik, B. R., Godena, V. K., & Whitworth, A. J. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv322 · Cited by 87 · see citing works
Quantitative proteomic analysis of Parkin substrates in Drosophila neurons
Martinez, A., Lectez, B. L. P., Ramírez, J., Popp, O., Sutherland, J. D., Urbé, S., Dittmar, G., Clague, M. J., & Mayor, U. (2017) · Molecular Neurodegeneration · doi:10.1186/s13024-017-0170-3 · Cited by 83 · see citing works
Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family
Wider, C. W., Skipper, L. M., Solida, A., et al. (2008) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2007.11.013 · Cited by 82 · see citing works
Kirola, L., Behari, M., Shishir, C., & Thelma, B. K. (2016) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2016.07.014 · Cited by 82 · see citing works
S-nitrosylation of UCHL1 induces its structural instability and promotes α-synuclein aggregation
Kumar, R., Jangir, D. K., Verma, G., Shekhar, S., Hanpude, P., Kumar, S., Kumari, R., Singh, N., Bhavesh, N. S., Jana, N. R., et al. (2017) · Scientific Reports · doi:10.1038/srep44558 · Cited by 82 · see citing works
Analysis of GWAS-linked loci in Parkinson disease reaffirms PARK16 as a susceptibility locus
Tan, E., Kwok, H.-K., Tan, L. C. S., et al. (2010) · Neurology · doi:10.1212/wnl.0b013e3181eccfcd · Cited by 80 · see citing works
Giovannone, B., Tsiaras, W. G., de la Monte, S. M., Kłysik, J., Lautier, C., Karashchuk, G., Goldwurm, S., & Smith, R. J. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp430 · Cited by 78 · see citing works
PINK1 in the limelight: multiple functions of an eclectic protein in human health and disease
Arena, G., & Valente, E. M. (2016) · The Journal of Pathology · doi:10.1002/path.4815 · Cited by 78 · see citing works
Sloan, M., Alegre‐Abarrategui, J., Potgieter, D., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddv628 · Cited by 73 · see citing works
A new F‐box protein 7 gene mutation causing typical Parkinson's disease
Lohmann, E., Coquel, A., Honoré, A., et al. (2015) · Movement Disorders · doi:10.1002/mds.26266 · Cited by 71 · see citing works
Delgado-Camprubi, M., Esteras, N., Soutar, M. P., Plun-Favreau, H., & Abramov, A. Y. (2017) · Cell Death & Differentiation · doi:10.1038/cdd.2016.104 · Cited by 71 · see citing works
Impaired striatal dopamine release in homozygous Vps35 D620N knock-in mice
Ishizu, N., Yui, D., Hebisawa, A., Aizawa, H., Cui, W., Fujita, Y., Hashimoto, K., Ajioka, I., Mizusawa, H., Yokota, T., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw279 · Cited by 68 · see citing works
Jara, J. H., Genç, B., Cox, G. A., et al. (2015) · Cerebral Cortex · doi:10.1093/cercor/bhu318 · Cited by 67 · see citing works
Vingill, S., Brockelt, D., Lancelin, C., Tatenhorst, L., Dontcheva, G., Preisinger, C., Schwedhelm‐Domeyer, N., Joseph, S., Mitkovski, M., Goebbels, S., et al. (2016) · The EMBO Journal · doi:10.15252/embj.201593585 · Cited by 67 · see citing works
cDNA Cloning and Expression Analysis of New Members of the Mammalian F-Box Protein Family
Ilyin, G. P., Rialland, M., Pigeon, C., et al. (2000) · Genomics · doi:10.1006/geno.2000.6211 · Cited by 63 · see citing works
Potentiation of neurotoxicity in double-mutant mice with Pink1 ablation and A53T-SNCA overexpression
Gispert, S., Brehm, N., Weil, J., Seidel, K., Rüb, U., Kern, B., Walter, M. J., Roeper, J., & Auburger, G. W. J. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu520 · Cited by 63 · see citing works
Wilhelmus, M. M. M., Nijland, P. G., Drukarch, B., de Vries, H. E., & van Horssen, J. (2012) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2012.05.040 · Cited by 62 · see citing works
FBXO7 mutations in Parkinson's disease and multiple system atrophy
Conedera, S., Apaydın, H., Li, Y., et al. (2016) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2016.01.003 · Cited by 62 · see citing works
Mutations in theATP13A2Gene and Parkinsonism: A Preliminary Review
Yang, X., & Xu, Y. (2014) · BioMed Research International · doi:10.1155/2014/371256 · Cited by 60 · see citing works
Four Copies of SNCA Responsible for Autosomal Dominant Parkinson’s Disease in Two Italian Siblings
Ferese, R., Modugno, N., Campopiano, R., et al. (2015) · Parkinson s Disease · doi:10.1155/2015/546462 · Cited by 60 · see citing works
Lin, C.-H., Chen, M.-L., Chen, G. S., Tai, C.-H., & Wu, R.-M. (2011) · Human Genetics · doi:10.1007/s00439-011-1041-6 · Cited by 58 · see citing works
Demirsoy, Ş., Martin, S., Motamedi, S., van Veen, S., Holemans, T., den Haute, C. V., Jordanova, A., Baekelandt, V., Vangheluwe, P., & Agostinis, P. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx070 · Cited by 57 · see citing works
Genetic risk factors for cognitive decline in Parkinson's disease: a review of the literature
Fagan, E., & Pihlstrøm, L. (2017) · European Journal of Neurology · doi:10.1111/ene.13258 · Cited by 57 · see citing works
Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease
Ross, J. P., Dupré, N., Dauvilliers, Y. A., et al. (2016) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2016.04.023 · Cited by 54 · see citing works
Lopert, P., & Patel, M. (2014) · Redox Biology · doi:10.1016/j.redox.2014.04.010 · Cited by 52 · see citing works
Kim, M. J., Deng, H., Wong, Y. C., Siddique, T., & Krainc, D. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw413 · Cited by 52 · see citing works
Self-citationDNAJC13 genetic variants in parkinsonism
Gustavsson, E. K., Trinh, J., Guella, I., et al. (2014) · Movement Disorders · doi:10.1002/mds.26064 · Cited by 51 · see citing works
SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population
Trotta, L., Guella, I., Soldà, G., Sironi, F. M., Tesei, S., Canesi, M., Pezzoli, G., Goldwurm, S., Duga, S., & Asselta, R. (2011) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2011.10.014 · Cited by 51 · see citing works
TheEIF4G1gene and Parkinson's disease
Deng, H., Wu, Y. Q., & Jankovic, J. J. (2015) · Acta Neurologica Scandinavica · doi:10.1111/ane.12397 · Cited by 51 · see citing works
Self-citationPARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease
Beecham, G. W., Dickson, D. W., Scott, W. K., Martin, E. R., Schellenberg, G. D., Nuytemans, K., Larson, E. B., Buxbaum, J. D., Trojanowski, J. Q., Deerlin, V. M. V., et al. (2015) · Neurology · doi:10.1212/wnl.0000000000001332 · Cited by 49 · see citing works
Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes
West, A. B., Zimprich, A. A., Lockhart, P. J., Farrer, M. J., Singleton, A., Holtom, B., Lincoln, S., Hofer, A., Hill, L. D., Müller-Myhsok, B., et al. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200698 · Cited by 49 · see citing works
Sudhaman, S., Muthane, U. B., Behari, M., et al. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103616 · Cited by 46 · see citing works
Tokutake, T., Ishikawa, A., Yoshimura, N., et al. (2013) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2013.11.008 · Cited by 45 · see citing works
Genetic Architecture of MAPT Gene Region in Parkinson Disease Subtypes
Pascale, E., Battista, M. E. D., Rubino, A., et al. (2016) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2016.00096 · Cited by 45 · see citing works
Baseline motor findings and Parkinson disease prognostic subtypes
Rajput, A. H., Rajput, M. L., Ferguson, L. W., & Rajput, A. H. (2017) · Neurology · doi:10.1212/wnl.0000000000004078 · Cited by 44 · see citing works
PLA2G6-associated Dystonia–Parkinsonism: Case Report and Literature Review
Karkheiran, S., Shahidi, G. A., Walker, R. H., et al. (2015) · PubMed · doi:10.7916/d84q7t4w · Cited by 43 · see citing works
Heterogeneous Phenotype in a Family With Compound Heterozygous Parkin Gene Mutations
Deng, H., Le, W.-D., Hunter, C., et al. (2006) · Archives of Neurology · doi:10.1001/archneur.63.2.273 · Cited by 42 · see citing works
Self-citationSpadafora, P., Annesi, G., Pasqua, A. A., Serra, P., Candiano, I. C. C., Carrideo, S., Tarantino, P., Civitelli, D., Marco, E. V. D., Nicoletti, G., et al. (2003) · Neuroscience Letters · doi:10.1016/s0304-3940(03)00859-0 · Cited by 42 · see citing works
PLA2G6-associated Dystonia–Parkinsonism: Case Report and Literature Review
Karkheiran, S., Shahidi, G. A., Walker, R. H., et al. (2015) · Tremor and Other Hyperkinetic Movements · doi:10.5334/tohm.254 · Cited by 42 · see citing works
New and emerging medical therapies in Parkinson’s disease
Lotia, M., & Jankovic, J. J. (2016) · Expert Opinion on Pharmacotherapy · doi:10.1517/14656566.2016.1149163 · Cited by 41 · see citing works
Self-citationHam, S. J., Lee, S. Y., Song, S., Chung, J.-R., Choi, S., & Chung, J. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.m115.687319 · Cited by 40 · see citing works
A53T in a parkinsonian family: a clinical update of the SNCA phenotypes
Tambasco, N., Nigro, P., Romoli, M., Prontera, P., Simoni, S., & Calabresi, P. (2016) · Journal of Neural Transmission · doi:10.1007/s00702-016-1578-6 · Cited by 39 · see citing works
G2385R and I2020T Mutations Increase LRRK2 GTPase Activity
Ho, D. H., Jang, J., Joe, E.-H., Son, I., Seo, H., & Seol, W. (2016) · BioMed Research International · doi:10.1155/2016/7917128 · Cited by 37 · see citing works
Wang, G., Huang, Y. M., Chen, W., Chen, D., Wang, Y., Xiao, Q., Liu, J., Fung, V. S. C., Halliday, G. M., & Chen, S. (2015) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2015.12.018 · Cited by 35 · see citing works
Shu, Y., Ming, J., Zhang, P., Wang, Q., Jiao, F., & Tian, B. (2016) · PLoS ONE · doi:10.1371/journal.pone.0149739 · Cited by 35 · see citing works
Role of the VPS35 D620N mutation in Parkinson's disease
Mohan, M., & Mellick, G. D. (2016) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2016.12.001 · Cited by 34 · see citing works
The contribution of GIGYF2 to Parkinson’s disease: a meta-analysis
Zhang, Y., Sun, Q., Yu, R., et al. (2015) · Neurological Sciences · doi:10.1007/s10072-015-2316-9 · Cited by 33 · see citing works
Xilouri, M., Kyratzi, E., Pitychoutis, P. M., Papadopoulou-Daifoti, Z., Perier, C., Vila, M., Maniati, M., Ulusoy, A., Kirik, D., Park, D. S., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr521 · Cited by 33 · see citing works
Leucine‐rich repeat kinase 2 and Parkinson's disease
Kang, U., & Marto, J. A. (2016) · PROTEOMICS · doi:10.1002/pmic.201600092 · Cited by 31 · see citing works
Lorenzo‐Betancor, O., Ogaki, K., Soto‐Ortolaza, A. I., et al. (2015) · European Journal of Neurology · doi:10.1111/ene.12770 · Cited by 30 · see citing works
Xiong, W., Sun, Y., Guan, R., et al. (2016) · Journal of Neurology · doi:10.1007/s00415-016-8213-1 · Cited by 30 · see citing works
DNAJ mutations are rare in Chinese Parkinson's disease patients and controls
Foo, J. N., Liany, H., Tan, L. C. S., et al. (2013) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2013.09.018 · Cited by 29 · see citing works
Rubio, J. P., Topp, S. D., Warren, L. L., Jean, P. L. S., Wegmann, D., Kessner, D., Novembre, J., Shen, J., Fraser, D. J., Aponte, J. L., et al. (2012) · Human Mutation · doi:10.1002/humu.22075 · Cited by 29 · see citing works
GIGYF2 mutation in late-onset Parkinson’s disease with cognitive impairment
Ruiz‐Martínez, J., Krebs, C. E., Makarov, V., Gorostidi, A., Martí-Massó, J. F., & Paisán‐Ruiz, C. (2015) · Journal of Human Genetics · doi:10.1038/jhg.2015.69 · Cited by 28 · see citing works
Progress toward an integrated understanding of Parkinson’s disease
Rousseaux, M. W. C., Shulman, J. M., & Jankovic, J. J. (2017) · F1000Research · doi:10.12688/f1000research.11820.1 · Cited by 27 · see citing works
Self-citationArabidopsis AtPARK13, Which Confers Thermotolerance, Targets Misfolded Proteins
Basak, I., Pal, R., Patil, K. S., Dunne, A., Ho, H., Lee, S., Peiris, D., Maple‐Grødem, J., Odell, M., Chang, E. J., et al. (2014) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.548156 · Cited by 26 · see citing works
Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene
Guella, I., Pistocchi, A., Asselta, R., et al. (2010) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2009.12.016 · Cited by 23 · see citing works
Chen, C., Chen, Y., Chiang, M.-C., Fung, H., Chang, K., Lee‐Chen, G., & Wu, Y. (2015) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2015.12.016 · Cited by 23 · see citing works
Genetic variations of Omi/HTRA2 in Chinese patients with Parkinson's disease
Wang, C., Xu, Q., Weng, L., et al. (2011) · Brain Research · doi:10.1016/j.brainres.2011.02.037 · Cited by 21 · see citing works
Mitochondrial defects and neurodegeneration in mice overexpressing wild-type or G399S mutant HtrA2
Casadei, N., Sood, P., Ulrich, T., Fallier‐Becker, P., Kieper, N., Helling, S., May, C., Glaab, E., Chen, J., Nuber, S., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv485 · Cited by 21 · see citing works
A novel mutation of CHCHD2 p.R8H in a sporadic case of Parkinson's disease
Ikeda, A., Matsushima, T., Daida, K., et al. (2016) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2016.10.018 · Cited by 19 · see citing works
Wang, L., Cheng, L., Li, N., Yu, W., Sun, X., & Peng, R. (2015) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32410 · Cited by 18 · see citing works
Yuan, X., Chen, Y., Cao, B., et al. (2014) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2014.11.022 · Cited by 17 · see citing works
Evaluating the role of TMEM230 variants in Parkinson's disease
Baumann, H., Wolff, S., Münchau, A. M., et al. (2016) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2016.12.015 · Cited by 17 · see citing works
Exenatide – a drug for diabetes and Parkinson disease?
Jankovic, J. J. (2017) · Nature Reviews Neurology · doi:10.1038/nrneurol.2017.140 · Cited by 17 · see citing works
Self-citationPARK13 regulates PINK1 and subcellular relocation patterns under oxidative stress in neurons
Patil, K. S., Basak, I., Lee, S., Abdullah, R., Larsen, J. P., & Møller, S. G. (2014) · Journal of Neuroscience Research · doi:10.1002/jnr.23396 · Cited by 16 · see citing works
Sequencing TMEM230 in Chinese patients with sporadic or familial Parkinson's disease
Yang, X., An, R., Xi, J., et al. (2017) · Movement Disorders · doi:10.1002/mds.26996 · Cited by 14 · see citing works
Edwards, Y. H., Fox, M., Povey, S., et al. (1991) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1991.tb00853.x · Cited by 13 · see citing works
Genetic analysis of SNCA coding mutation in Chinese Han patients with Parkinson disease
Deng, S., Deng, X., Yuan, L., et al. (2014) · Acta Neurologica Belgica · doi:10.1007/s13760-014-0347-2 · Cited by 13 · see citing works
Guo, Y., Tan, T., Deng, X., et al. (2015) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2015.09.002 · Cited by 12 · see citing works
Goldman, S. M., Umbach, D. M., Kamel, F., et al. (2015) · European Journal of Neurology · doi:10.1111/ene.12694 · Cited by 11 · see citing works
Genetic analysis of CHCHD2 gene in Chinese Parkinson's disease
Li, N., Wang, L., Tan, E., et al. (2016) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32498 · Cited by 11 · see citing works
Mutation analysis of the CHCHD2 gene in Chinese Han patients with Parkinson's disease
Lü, Q., Deng, X., Song, Z. J., et al. (2016) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2016.04.012 · Cited by 10 · see citing works
RIC3 variants are not associated with Parkinson's disease in French-Canadians and French
Ross, J. P., Dupré, N., Dauvilliers, Y. A., et al. (2017) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2017.01.005 · Cited by 10 · see citing works
Zhang, P., Wang, Q., Jiao, F., et al. (2016) · Scientific Reports · doi:10.1038/srep35171 · Cited by 9 · see citing works
Counseling At-Risk Parkinson’s Disease Cohorts: Integrating Emerging Evidence
Sokol, L. L., Young, M. J., & Jankovic, J. J. (2017) · Current Genetic Medicine Reports · doi:10.1007/s40142-017-0116-7 · Cited by 8 · see citing works
Self-citationAnalysis of c.801-2A>G mutation in the DNAJC6 gene in Parkinson's disease in southern Spain
Jesús, S., Gómez‐Garre, P., Carrillo, F., et al. (2013) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2013.10.018 · Cited by 7 · see citing works
HTRA2 variations in Taiwanese Parkinson’s disease
Chen, C., Wu, C., Hsieh, C.-H., Lin, C., Chen, I., Chen, Y., Lee, L., Lee, C.-M., Tseng, Y., Lee‐Chen, G., et al. (2013) · Journal of Neural Transmission · doi:10.1007/s00702-013-1131-9 · Cited by 7 · see citing works
DNAJC6 mutations are not common causes of early onset Parkinson’s disease in Chinese Han population
Shi, C., Fang, L., Yang, J., Zhang, S., Mao, C., Wang, H., Shi, M., Liu, Y., Song, B., & Xu, Y. (2016) · Neuroscience Letters · doi:10.1016/j.neulet.2016.09.044 · Cited by 7 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Microglia in neurodegeneration
Hickman, S., Izzy, S., Sen, P., Morsett, L., & El Khoury, J. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0242-x · Cited by 1,710 · see citing works
Parkinson disease and the immune system - Associations, mechanisms and therapeutics
Tan, E.-K., Chao, Y.-X., West, A., Chan, L.-L., Poewe, W., & Jankovic, J. (2020) · Nature Reviews Neurology · doi:10.1038/s41582-020-0344-4 · Cited by 457 · see citing works
Self-citationBonello, F., Hassoun, S.-M., Mouton-Liger, F., Shin, Y. S., Muscat, A., Tesson, C., Lesage, S., Beart, P. M., Brice, A., Krupp, J., et al. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz004 · Cited by 163 · see citing works
Brunetti, G., Di Rosa, G., Scuto, M., Leri, M., Stefani, M., Schmitz-Linneweber, C., Calabrese, V., & Saul, N. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21072588 · Cited by 138 · see citing works
Patricio, F., Morales-Andrade, A. A., Patricio-Martínez, A., & Limón, I. D. (2020) · Frontiers in Pharmacology · doi:10.3389/fphar.2020.595635 · Cited by 129 · see citing works
Beneficial Effects of Spirulina Consumption on Brain Health
Trotta, T., Porro, C., Cianciulli, A., & Panaro, M. A. (2022) · Nutrients · doi:10.3390/nu14030676 · Cited by 98 · see citing works
Lorente-Picón, M., & Laguna, A. (2021) · Biomolecules · doi:10.3390/biom11030433 · Cited by 69 · see citing works
Genetically modified large animal models for investigating neurodegenerative diseases
Yang, W., Chen, X., Li, S., & Li, X.-J. (2021) · Cell & Bioscience · doi:10.1186/s13578-021-00729-8 · Cited by 45 · see citing works
- Authors
- Deng, H., Wang, P., & Jankovic, J.
- Affiliations
- Central South University (CN)
- Baylor College of Medicine (US)
- Corresponding author
- Deng, Hao
- Venue
- Ageing Research Reviews
- Publisher
- Elsevier BV
- Published
- 2018-03
- Volume
- 42
- Pages
- 72-85
- ISSN
- 1568-1637 (ISSN-L)
- OpenAlex
- W2781194958
- Cited by
- 530
- References
- 177
- Citations by year
- 2026: 22 · 2025: 60 · 2024: 55 · 2023: 68 · 2022: 72 · 2021: 73 · 2020: 83 · 2019: 56 · 2018: 41
- FWCI
- 6.56
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Ageing Research Reviews (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Key Research and Development Program of China (2016YFC1306604)
- National Natural Science Foundation of China (81670216)
- Natural Science Foundation of Hunan Province (2015JJ4088, 2016JJ2166, 2017JJ3469)
- Foster Key Subject of the Third Xiangya Hospital of Central South University (Clinical Laboratory Diagnostics)
- New Xiangya Talent Project of the Third Xiangya Hospital of Central South University (20150301)
- Parkinson Foundation and Michael J. Fox Foundation
- Topics
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Nuclear Receptors and Signaling
- Health Sciences › Medicine › Neurology › Neurological disorders and treatments
- Keywords
- Parkinson's disease, genetic susceptibility loci, disease-associated genes, Mendelian inheritance, sporadic Parkinson disease, genetic risk variants, neurodegeneration pathogenesis, genetic counseling, disease-modifying therapy, parkinsonism
- MeSH terms
- Animals, Humans, Mutation, Parkinson Disease, Phenotype, Signal Transduction, Genetic Predisposition to Disease, Heredity, Ubiquitin-Protein Ligases, Ataxia Telangiectasia Mutated Proteins
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review