Publications

  1. Kalia LV, Lang AE, Hazrati LN, Fujioka S, Wszolek ZK, Dickson DW, Ross OA, Van Deerlin VM, Trojanowski JQ, Hurtig HI, Alcalay RN, Marder KS, Clark LN, Gaig C, Tolosa E, Ruiz-Martinez J, Marti-Masso JF, Ferrer I, Lopez de Munain A, Goldman SM, Schule B, Clinical Correlations With Lewy Body Pathology in LRRK2-Related Parkinson Disease. JAMA Neurol. 2014 Nov 17.
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  2. Heckman MG, Schottlaender L, Soto-Ortolaza AI, Diehl NN, Rayaprolu S, Ogaki K, Fujioka S, Murray ME, Cheshire WP, Uitti RJ, Wszolek ZK, Farrer MJ, Sailer A, Singleton AB, Chinnery PF, Keogh MJ, Gentleman SM, Holton JL, Aoife K, Mann DM, Al-Sarraj S, LRRK2 exonic variants and risk of multiple system atrophy. Neurology. 2014 Nov 05.
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  3. van Blitterswijk M, Mullen B, Heckman MG, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Neumann M, Strong MJ, Beach TG, Wszolek ZK, Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers. Neurobiol Aging. 2014 Oct; 35(10):2421.e13-7. Epub 2014 May 02.
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  4. Siuda J, Jasinska-Myga B, Boczarska-Jedynak M, Opala G, Fiesel FC, Moussaud-Lamodiere EL, Scarffe LA, Dawson VL, Ross OA, Springer W, Dawson TM, Wszolek ZK. Early-onset Parkinson's disease due to PINK1 p.Q456X mutation - Clinical and functional study. Parkinsonism Relat Disord. 2014 Sep 02.
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  5. Siuda J, Fujioka S, Wszolek ZK. Parkinsonian syndrome in familial frontotemporal dementia. Parkinsonism Relat Disord. 2014 Sep; 20(9):957-64. Epub 2014 Jun 13.
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  6. Fujioka S, Boeve BF, Parisi JE, Tacik P, Aoki N, Strongosky AJ, Baker M, Sanchez-Contreras M, Ross OA, Rademakers R, Sossi V, Dickson DW, Stoessl AJ, Wszolek ZK. A familial form of parkinsonism, dementia, and motor neuron disease: A longitudinal study. Parkinsonism Relat Disord. 2014 Aug 19.
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  7. Rajput A, Ross JP, Bernales CQ, Rayaprolu S, Soto-Ortolaza AI, Ross OA, van Gerpen J, Uitti RJ, Wszolek ZK, Rajput AH, Vilarino-Guell C. VPS35 and DNAJC13 disease-causing variants in essential tremor. Eur J Hum Genet. 2014 Aug 13.
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  8. Shannon B, Soto-Ortolaza A, Rayaprolu S, Cannon HD, Labbe C, Benitez BA, Choi J, Lynch T, Boczarska-Jedynak M, Opala G, Krygowska-Wajs A, Barcikowska M, Van Gerpen JA, Uitti RJ, Springer W, Cruchaga C, Wszolek ZK, Ross OA. Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease. Neurobiol Aging. 2014 Aug; 35(8):1958.e1-2. Epub 2014 Mar 05.
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  9. Tacik P, Fiesel FC, Fujioka S, Ross OA, Pretelt F, Castaneda Cardona C, Kidd A, Hlavac M, Raizis A, Okun MS, Traynor S, Strongosky AJ, Springer W, Wszolek ZK. Three families with Perry syndrome from distinct parts of the world. Parkinsonism Relat Disord. 2014 Aug; 20(8):884-8. Epub 2014 May 13.
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  10. Sanchez-Contreras M, Baker MC, Finch NA, Nicholson A, Wojtas A, Wszolek ZK, Ross OA, Dickson DW, Rademakers R. Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology. Hum Mutat. 2014 Aug; 35(8):964-71. Epub 2014 Jun 03.
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  11. Angeles DC, Ho P, Chua LL, Wang C, Yap YW, Ng C, Zhou Zd, Lim KL, Wszolek ZK, Wang HY, Tan EK. Thiol peroxidases ameliorate LRRK2 mutant-induced mitochondrial and dopaminergic neuronal degeneration in Drosophila. Hum Mol Genet. 2014 Jun 15; 23(12):3157-65. Epub 2014 Jan 23.
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  12. Vemula SR, Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Truong DD, Blitzer A, Rudzinska M, Momcilovic D, Jinnah HA, Frei K, Pfeiffer RF, LeDoux MS. A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia. Mol Genet Genomic Med. 2014 May; 2(3):261-72. Epub 2014 Feb 11.
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  13. Martin I, Kim JW, Lee BD, Kang HC, Xu JC, Jia H, Stankowski J, Kim MS, Zhong J, Kumar M, Andrabi SA, Xiong Y, Dickson DW, Wszolek ZK, Pandey A, Dawson TM, Dawson VL. Ribosomal protein s15 phosphorylation mediates LRRK2 neurodegeneration in Parkinson's disease. Cell. 2014 Apr 10; 157(2):472-85.
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  14. Vilarino-Guell 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, Dnajc13 mutations in Parkinson disease. Hum Mol Genet. 2014 Apr 1; 23(7):1794-801.
  15. Ross JP, Rayaprolu S, Bernales CQ, Soto-Ortolaza AI, van Gerpen J, Uitti RJ, Wszolek ZK, Rajput A, Rajput AH, Rajput ML, Ross OA, Vilarino-Guell C. SLC1A2 rs3794087 does not associate with essential tremor. Neurobiol Aging. 2014 Apr; 35(4):935.e9-10. Epub 2013 Oct 16.
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  16. Baker M, Strongosky AJ, Sanchez-Contreras MY, Yang S, Ferguson W, Calne DB, Calne S, Stoessl AJ, Allanson JE, Broderick DF, Hutton ML, Dickson DW, Ross OA, Wszolek ZK, Rademakers R. SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. Neurogenetics. 2014 Mar; 15(1):23-30. Epub 2013 Oct 18.
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  17. van Blitterswijk M, Mullen B, Nicholson AM, Bieniek KF, Heckman MG, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Strong TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. Acta Neuropathol. 2014 Mar; 127(3):397-406. Epub 2014 Jan 03.
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  18. Kouri N, Carlomagno Y, Baker M, Liesinger AM, Caselli RJ, Wszolek ZK, Petrucelli L, Boeve BF, Parisi JE, Josephs KA, Uitti RJ, Ross OA, Graff-Radford NR, DeTure MA, Dickson DW, Rademakers R. Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration. Acta Neuropathol. 2014 Feb; 127(2):271-82.
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  19. Hillbom M, Saloheimo P, Fujioka S, Wszolek ZK, Juvela S, Leone MA. Diagnosis and management of Marchiafava-Bignami disease: a review of CT/MRI confirmed cases. J Neurol Neurosurg Psychiatry. 2014 Feb; 85(2):168-73. Epub 2013 Aug 26.
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  20. Heckman MG, Elbaz A, Soto-Ortolaza AI, Serie DJ, Aasly JO, Annesi G, Auburger G, Bacon JA, Boczarska-Jedynak M, Bozi M, Brighina L, Chartier-Harlin MC, Dardiotis E, Destee A, Ferrarese C, Ferraris A, Fiske B, Gispert S, Hadjigeorgiou GM, Hattori N, Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants. Neurobiol Aging. 2014 Jan; 35(1):266.e5-14. Epub 2013 Aug 17.
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  21. Labbe C, Rayaprolu S, Soto-Ortolaza A, Ogaki K, Uitti RJ, Wszolek ZK, Ross OA. Investigating FUS variation in Parkinson's disease. Parkinsonism Relat Disord. 2014 Jan; 20 Suppl 1:S147-9.
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  22. Fujioka S, Ogaki K, Tacik PM, Uitti RJ, Ross OA, Wszolek ZK. Update on novel familial forms of Parkinson's disease and multiple system atrophy. Parkinsonism Relat Disord. 2014 Jan; 20 Suppl 1:S29-34.
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  23. Sitek EJ, Narozanska E, Barczak A, Jasinska-Myga B, Harciarek M, Chodakowska-Zebrowska M, Kubiak M, Wieczorek D, Konieczna S, Rademakers R, Baker M, Berdynski M, Brockhuis B, Barcikowska M, Zekanowski C, Heilman KM, Wszolek ZK, Slawek J. Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon? Neurocase. 2014; 20(1):69-86. Epub 2012 Nov 05.
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  24. Medway CW, Abdul-Hay S, Mims T, Ma L, Bisceglio G, Zou F, Pankratz S, Sando SB, Aasly JO, Barcikowska M, Siuda J, Wszolek ZK, Ross OA, Carrasquillo M, Dickson DW, Graff-Radford N, Petersen RC, Ertekin-Taner N, Morgan K, Bu G, Younkin SG. ApoE variant p.V236E is associated with markedly reduced risk of Alzheimer's disease. Mol Neurodegener. 2014; 9:11. Epub 2014 Mar 10.
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  25. Angeles DC, Ho P, Chua LL, Wang C, Yap YW, Ng C, Zhou ZD, Lim KL, Wszolek ZK, Wang HY, Tan EK. Thiol peroxidases ameliorateLRRK2mutant-induced mitochondrial and dopaminergic neuronal degeneration in Drosophila. Hum Mol Genet. 2014; 23(12):3157-65.
  26. Siuda J, Lewicka T, Bujak M, Opala G, Golenia A, Slowik A, van Blitterswijk M, Baker M, Ertekin-Taner N, Wszolek ZK, Rademakers R. Als-ftd complex disorder due to c9orf72 gene mutation: description of first Polish family. Eur Neurol. 2014; 72(1-2):64-71.
  27. Chung SJ, Biernacka JM, Armasu SM, Anderson K, Frigerio R, Aasly JO, Annesi G, Bentivoglio AR, Brighina L, Chartier-Harlin MC, Goldwurm S, Hadjigeorgiou G, Jasinska-Myga B, Jeon BS, Kim YJ, Krüger R, Lesage S, Markopoulou K, Mellick G, Morrison KE, Alpha-synuclein repeat variants and survival in Parkinson's disease. Mov Disord. 2014; 29(8):1053-7.
  28. Fujioka S, Van Gerpen JA, Uitti RJ, Dickson DW, Wszolek ZK. Familial progressive supranuclear palsy: a literature review. Neurodegener Dis. 2014; 13(2-3):180-2. Epub 2013 Sep 24
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  29. Felicio AC, Dinelle K, Agarwal PA, Mckenzie J, Heffernan N, Road JD, Appel-Cresswell S, Wszolek ZK, Farrer MJ, Schulzer M, Sossi V, Stoessl AJ. In vivo dopaminergic and serotonergic dysfunction in DCTN1 gene mutation carriers. Mov Disord. 2014; 29(9):1197-201.
  30. van Blitterswijk M, Mullen B, Wojtas A, Heckman MG, Diehl NN, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Neumann M, Strong MJ, Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene. Mol Neurodegener. 2014; 9:38. Epub 2014 Sep 20.
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  31. Lorenzo-Betancor O, Ogaki K, Soto-Ortolaza A, Labbe C, Vilarino-Guell C, Rajput A, Rajput AH, Pastor P, Ortega S, Lorenzo E, Strongosky AJ, van Gerpen JA, Uitti RJ, Wszolek ZK, Ross OA. Analysis of Nuclear Export Sequence Regions of FUS-Related RNA-Binding Proteins in Essential Tremor. PLoS One. 2014; 9(11):e111989. Epub 2014 Nov 06.
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  32. Ogaki K, Fujioka S, Heckman MG, Rayaprolu S, Soto-Ortolaza AI, Labbe C, Walton RL, Lorenzo-Betancor O, Wang X, Asmann Y, Rademakers R, Graff-Radford N, Uitti R, Cheshire WP, Wszolek ZK, Dickson DW, Ross OA. Analysis of COQ2 gene in multiple system atrophy. Mol Neurodegener. 2014; 9:44. Epub 2014 Nov 05.
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  33. Jones D, Weigand S, Przybelski S, Graff-Radford J, Senjem M, Gunter J, Whitwell J, Knopman D, Graff-Radford N, Josephs K, Wszolek Z, Vemuri P, Fields J, Machulda M, Ferman T, Lucas J, Lowe V, Gavrilova R, Kuntz K, DeJesus-Hernandez M, Baker M, Rademakers Longitudinal changes in brain MRI and neuropsychological measures in asymptomatic and symptomatic familial frontotemporal lobar degeneration with mutations in MAPT. Am J Neurodegener Dis. 2014; 3(Suppl 1):195.
  34. Ferman TJ, Smith GE, Kantarci K, Boeve BF, Pankratz VS, Dickson DW, Graff-Radford NR, Wszolek Z, Van Gerpen J, Uitti R, Pedraza O, Murray ME, Aakre J, Parisi J, Knopman DS, Petersen RC. Nonamnestic mild cognitive impairment progresses to dementia with Lewy bodies. Neurology. 2013 Dec 3; 81(23):2032-8. Epub 2013 Nov 08.
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  35. Hoffman-Zacharska D, Koziorowski D, Ross OA, Milewski M, Poznanski J, Jurek M, Wszolek ZK, Soto-Ortolaza A, Slawek J, Janik P, Jamrozik Z, Potulska-Chromik A, Jasinska-Myga B, Opala G, Krygowska-Wajs A, Czyzewski K, Dickson DW, Bal J, Friedman A. Novel A18T and pA29S substitutions in alpha-synuclein may be associated with sporadic Parkinson's disease. Parkinsonism Relat Disord. 2013 Nov; 19(11):1057-60. Epub 2013 Aug 02.
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  36. van Blitterswijk M, Baker MC, DeJesus-Hernandez M, Ghidoni R, Benussi L, Finger E, Hsiung GY, Kelley BJ, Murray ME, Rutherford NJ, Brown PE, Ravenscroft T, Mullen B, Ash PE, Bieniek KF, Hatanpaa KJ, Karydas A, Wood EM, Coppola G, Bigio EH, Lippa C, C9ORF72 repeat expansions in cases with previously identified pathogenic mutations. Neurology. 2013 Oct 8; 81(15):1332-41. Epub 2013 Sep 11.
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  37. Heckman MG, Soto-Ortolaza AI, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Mov Disord. 2013 Oct; 28(12):1740-4. Epub 2013 Aug 02.
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  38. Sundal C, Fujioka S, Van Gerpen JA, Wider C, Nicholson AM, Baker M, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Tselis A, Swerdlow RH, Miller BB, Borjesson-Hanson A, Uitti RJ, Ross OA, Stoessl AJ, Rademakers R, Josephs KA, Dickson DW, Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations. Parkinsonism Relat Disord. 2013 Oct; 19(10):869-77. Epub 2013 Jun 17.
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  39. van Blitterswijk M, Baker MC, Bieniek KF, Knopman DS, Josephs KA, Boeve B, Caselli R, Wszolek ZK, Petersen R, Graff-Radford NR, Boylan KB, Dickson DW, Rademakers R. Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Sep; 14(5-6):463-9. Epub 2013 May 02.
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  40. Labbe C, Soto-Ortolaza AI, Rayaprolu S, Harriott AM, Strongosky AJ, Uitti RJ, Van Gerpen JA, Wszolek ZK, Ross OA. Investigating the role of FUS exonic variants in essential tremor. Parkinsonism Relat Disord. 2013 Aug; 19(8):755-7. Epub 2013 Apr 16.
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  41. Boeve BF, Silber MH, Ferman TJ, Lin SC, Benarroch EE, Schmeichel AM, Ahlskog JE, Caselli RJ, Jacobson S, Sabbagh M, Adler C, Woodruff B, Beach TG, Iranzo A, Gelpi E, Santamaria J, Tolosa E, Singer C, Mash DC, Luca C, Arnulf I, Duyckaerts C, Schenck CH, Clinicopathologic correlations in 172 cases of rapid eye movement sleep behavior disorder with or without a coexisting neurologic disorder. Sleep Med. 2013 Aug; 14(8):754-62. Epub 2013 Mar 07.
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  42. Vemula SR, Puschmann A, Xiao J, Zhao Y, Rudzinska M, Frei KP, Truong DD, Wszolek ZK, LeDoux MS. Role of Galpha(olf) in familial and sporadic adult-onset primary dystonia. Hum Mol Genet. 2013 Jun 15; 22(12):2510-9. Epub 2013 Feb 27.
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  43. Fujioka S, Algom AA, Murray ME, Strongosky A, Soto-Ortolaza AI, Rademakers R, Ross OA, Wszolek ZK, Dickson DW. Similarities between familial and sporadic autopsy-proven progressive supranuclear palsy. Neurology. 2013 May 28; 80(22):2076-8. Epub 2013 May 01.
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  44. Cannon A, Fujioka S, Rutherford NJ, Ferman TJ, Broderick DF, Boylan KB, Graff-Radford NR, Uitti RJ, Rademakers R, Wszolek ZK, Dickson DW. Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis. Neurology. 2013 May 7; 80(19):1771-7. Epub 2013 Apr 17.
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  45. Nicholson AM, Baker MC, Finch NA, Rutherford NJ, Wider C, Graff-Radford NR, Nelson PT, Clark HB, Wszolek ZK, Dickson DW, Knopman DS, Rademakers R. CSF1R mutations link POLD and HDLS as a single disease entity. Neurology. 2013 Mar 12; 80(11):1033-40. Epub 2013 Feb 13.
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  46. Rayaprolu S, Fujioka S, Traynor S, Soto-Ortolaza AI, Petrucelli L, Dickson DW, Rademakers R, Boylan KB, Graff-Radford NR, Uitti RJ, Wszolek ZK, Ross OA. TARDBP mutations in Parkinson's disease. Parkinsonism Relat Disord. 2013 Mar; 19(3):312-5. Epub 2012 Dec 08.
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  47. Fujioka S, Sundal C, Strongosky AJ, Castanedes MC, Rademakers R, Ross OA, Vilarino-Guell C, Farrer MJ, Wszolek ZK, Dickson DW. Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia. Acta Neuropathol. 2013 Mar; 125(3):425-38. Epub 2012 Nov 04.
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  48. Heckman MG, Soto-Ortolaza AI, Diehl NN, Rayaprolu S, Brott TG, Wszolek ZK, Meschia JF, Ross OA. Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke. Eur J Neurol. 2013 Feb; 20(2):300-8. Epub 2012 Aug 06.
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  49. Dejesus-Hernandez M, Rayaprolu S, Soto-Ortolaza AI, Rutherford NJ, Heckman MG, Traynor S, Strongosky A, Graff-Radford N, Van Gerpen J, Uitti RJ, Shih JJ, Lin SC, Wszolek ZK, Rademakers R, Ross OA. Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome. Parkinsonism Relat Disord. 2013 Feb; 19(2):198-201. Epub 2012 Oct 18.
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  50. Foroutan P, Murray ME, Fujioka S, Schweitzer KJ, Dickson DW, Wszolek ZK, Grant SC. Progressive supranuclear palsy: high-field-strength MR microscopy in the human substantia nigra and globus pallidus. Radiology. 2013 Jan; 266(1):280-8. Epub 2012 Nov 14.
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  51. Fujioka S, Wszolek ZK. FBXO7 (PARK15), EIF4G1 (PARK18). J Clinic Exp Med (IGAKU NO AYUMI). 2013; 247:1069-1074.
  52. Soto-Ortolaza AI, Heckman MG, Labbe C, Serie DJ, Puschmann A, Rayaprolu S, Strongosky A, Boczarska-Jedynak M, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Lynch T, Uitti RJ, Wszolek ZK, Ross OA. GWAS risk factors in Parkinson's disease: LRRK2 coding variation and genetic interaction with PARK16. Am J Neurodegener Dis. 2013; 2(4):287-99. Epub 2013 Nov 29.
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  53. Fujishiro H, Imamura AY, Lin WL, Uchikado H, Mark MH, Golbe LI, Markopoulou K, Wszolek ZK, Dickson DW. Diversity of pathological features other than Lewy bodies in familial Parkinson's disease due to SNCA mutations. Am J Neurodegener Dis. 2013; 2(4):266-75. Epub 2013 Nov 29.
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  54. Fujioka S, Sundal C, Wszolek ZK. Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics. Orphanet J Rare Dis. 2013; 8:14. Epub 2013 Jan 18.
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  55. Rayaprolu S, Mullen B, Baker M, Lynch T, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Josephs KA, Knopman DS, White CL 3rd, Caselli R, Mackenzie IR, Miller BL, Boczarska-Jedynak M, Opala G, Krygowska-Wajs A, Barcikowska TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease. Mol Neurodegener. 2013; 8:19. Epub 2013 Jun 21.
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  56. Lincoln S, Allen M, Cox CL, Walker LP, Malphrus K, Qiu Y, Nguyen T, Rowley C, Kouri N, Crook J, Pankratz VS, Younkin S, Younkin L, Carrasquillo M, Zou F, Abdul-Hay SO, Springer W, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Lewis JM, Dickson D, LRRTM3 interacts with APP and BACE1 and has variants associating with late-onset Alzheimer's disease (LOAD). PLoS One. 2013; 8(6):e64164. Epub 2013 Jun 04.
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  57. Wszolek ZK. Poszukiwania przyczyn choroby Parkinsona i zespołów zwyrodnieniowych mózgu. [Search for causes of Parkinson’s disease and neurodegenerative syndromes] Wiad Lek. 2013; 66:131-132.
  58. Ross OA, Soto-Ortolaza AI, Heckman MG, Verbeeck C, Serie DJ, Rayaprolu S, Rich SS, Nalls MA, Singleton A, Guerreiro R, Kinsella E, Wszolek ZK, Brott TG, Brown RD Jr, Worrall BB, Meschia JF. NOTCH3 variants and risk of ischemic stroke. PLoS One. 2013; 8(9):e75035. Epub 2013 Sep 23.
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  59. Rutherford NJ, Heckman MG, Dejesus-Hernandez M, Baker MC, Soto-Ortolaza AI, Rayaprolu S, Stewart H, Finger E, Volkening K, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Knopman DS, Kretzschmar HA, Neumann M, Caselli RJ, White CL Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype. Neurobiol Aging. 2012 Dec; 33(12):2950.e5-7. Epub 2012 Jul 26.
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  60. Sharma M, Ioannidis JPA, Aasly JO, Annesi G, Brice A, Bertram L, Bozi M, Barcikowska M, Crosiers D, Clarke CE, Facheris MF, Farrer M, Garraux G, Gispert S, Auburger G, Vilarino-Guell C, Hadjigeorgiou GM, Hicks AA, Hattori N, Jeon BS, Jamrozik Z, A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. J Med Genet. 2012 Nov; 49(11):721-6.
  61. Duker AP, Espay AJ, Wszolek ZK, Rademakers R, Dickson DW, Kelley BJ. Atypical motor and behavioral presentations of Alzheimer disease: a case-based approach. Neurologist. 2012 Sep; 18(5):266-72.
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  62. Sharma M, Ioannidis JP, Aasly JO, Annesi G, Brice A, Van Broeckhoven C, Bertram L, Bozi M, Crosiers D, Clarke C, Facheris M, Farrer M, Garraux G, Gispert S, Auburger G, Vilarino-Guell C, Hadjigeorgiou GM, Hicks AA, Hattori N, Jeon B, Lesage S, Lill CM, Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology. 2012 Aug 14; 79(7):659-67. Epub 2012 Jul 11.
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  63. Sundal C, Van Gerpen JA, Nicholson AM, Wider C, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Borjesson-Hanson A, Tselis A, Swerdlow RH, Miller BB, Fujioka S, Heckman MG, Uitti RJ, Josephs KA, Baker M, Andersen O, Rademakers R, Dickson DW, MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology. 2012 Aug 7; 79(6):566-74. Epub 2012 Jul 25.
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  64. Coppola G, Chinnathambi S, Lee JJ, Dombroski BA, Baker MC, Soto-Ortolaza AI, Lee SE, Klein E, Huang AY, Sears R, Lane JR, Karydas AM, Kenet RO, Biernat J, Wang LS, Cotman CW, Decarli CS, Levey AI, Ringman JM, Mendez MF, Chui HC, Le Ber I, Brice A, Lupton Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Hum Mol Genet. 2012 Aug 1; 21(15):3500-12. Epub 2012 May 03.
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  65. De Paula AM, Michel B, Dickson DW, Wszolek ZK, Pellissier JF. Sporadic diffuse leucoencephalopathy with axonal spheroids: report of a profuse and rapid cortical-spinal degeneration. Neurol Sci. 2012 Aug; 33(4):905-9. Epub 2011 Oct 18
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  66. Rutherford NJ, DeJesus-Hernandez M, Baker MC, Kryston TB, Brown PE, Lomen-Hoerth C, Boylan K, Wszolek ZK, Rademakers R. C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository. Neurology. 2012 Jul 31; 79(5):482-3. Epub 2012 Jul 18.
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