Publications

1. Sekiya H, Tipton PW, Kawazoe M, Koga S, Murakami A, Maier AR, Uitti RJ, Cheshire WP, Wszolek ZK, Dickson DW. Current Landscape of Clinical Diagnosis in Multiple System Atrophy: A 15-Year Analysis From 2008 to 2022. Neurology. 2024 Dec 10; 103 (11):e210021 Epub 2024 Nov 12
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2. Miyagawa T, Vernon C, Przybelski SA, Min PH, Fields JA, Dickerson BC, Dickson DW, Kantarci K, Lowe VJ, Wszolek ZK, Boeve BF. Prominent loss of striatal dopamine transporter binding in frontotemporal lobar degeneration with the MAPT N279K mutation present as early as at prodromal stage without parkinsonism. Parkinsonism Relat Disord 2024 Nov; 128:107144 Epub 2024 Sept 08
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3. Ali M, Gu W, Sosero YL, Bandres-Ciga S, Ferwerda B, Tocino MTP, Belloso DR, Gomez-Garre P, Faouzi J, Taba P, Pavelka L, Marques TM, Gomes CPC, Kolodkin A, May P, Milanowski LM, Wszolek ZK, Uitti RJ, Heutink P, van Hilten JJ, Simon DK, Eberly S, Alvarez I, Krohn L, Yu E, Freeman K, Rudakou U, Ruskey JA, Asayesh F, Menendez-Gonzalez M, Pastor P, Ross OA, Kruger R, Corvol JC, Koks S, Mir P, De Bie RMA, Iwaki H, Gan-Or Z, NCER-PD Consortium//International Parkinson's Disease Genomic Consortium. Dopamine Pathway and Parkinson's Risk Variants Are Associated with Levodopa-Induced Dyskinesia. Mov Disord. 2024 Oct; 39 (10):1773-1783 Epub 2024 Aug 12
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4. Dulski J, Baker M, Banks SA, Bayat M, Bruffaerts R, Ortiz Cruz G, Disserol CC, Fisher KS, Jose JN, Kalman B, Kantarci OH, Maltsev D, Middleton C, Novotni G, Plaseska-Karanfilska D, Raskin S, Souza J, Teive HA, Wszolek ZK. Global Presence and Penetrance of CSF1R-Related Disorder. Neurol Genet. 2024 Oct; 10 (5):e200187 Epub 2024 Sept 13
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5. Jin Y, Li F, Li Z, Ikezu TC, O'Leary J, Selvaraj M, Zhu Y, Martens YA, Koga S, Santhakumar H, Li Y, Lu W, You Y, Lolo K, DeTure M, Beasley AI, Davis MD, McLean PJ, Ross OA, Kanekiyo T, Ikezu T, Caulfield T, Carr J, Wszolek ZK, Bu G, Dickson DW, Zhao N. Modeling Lewy body disease with SNCA triplication iPSC-derived cortical organoids and identifying therapeutic drugs. Sci Adv. 2024 Sep 13; 10 (37):eadk3700 Epub 2024 Sept 11
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6. Bustillos BA, Cocker LT, Coban MA, Weber CA, Bredenberg JM, Boneski PK, Siuda J, Slawek J, Puschmann A, Narendra DP, Graff-Radford NR, Wszolek ZK, Dickson DW, Ross OA, Caulfield TR, Springer W, Fiesel FC. Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W. Cells. 2024 Sep 13; 13 (18) Epub 2024 Sept 13
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7. Watzlawik JO, Hou X, Richardson T, Lewicki SL, Siuda J, Wszolek ZK, Cook CN, Petrucelli L, DeTure M, Dickson DW, Antico O, Muqit MMK, Fishman JB, Pirani K, Kumaran R, Polinski NK, Fiesel FC, Springer W. Development and characterization of phospho-ubiquitin antibodies to monitor PINK1-PRKN signaling in cells and tissue. Autophagy. 2024 Sep; 20 (9):2076-2091 Epub 2024 May 27
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8. Tamvaka N, Heckman MG, Johnson PW, Soto-Beasley AI, Walton RL, Koga S, Uitti RJ, Parfitt F, Graff-Radford MR, Wszolek ZK, Graff-Radford N, Valentino RR, Ross OA. Associations of mitochondrial genomic variation with successful neurological aging. Mitochondrion. 2024 Sep; 78:101948 Epub 2024 Aug 22
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9. Chadarevian JP, Hasselmann J, Lahian A, Capocchi JK, Escobar A, Lim TE, Le L, Tu C, Nguyen J, Kiani Shabestari S, Carlen-Jones W, Gandhi S, Bu G, Hume DA, Pridans C, Wszolek ZK, Spitale RC, Davtyan H, Blurton-Jones M. Therapeutic potential of human microglia transplantation in a chimeric model of CSF1R-related leukoencephalopathy. Neuron. 2024 Aug 21; 112 (16):2686-2707.e8 Epub 2024 June 18
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10. Gupta K, Perkerson RB 3rd, Parsons TM, Angom R, Amerna D, Burgess JD, Ren Y, McLean PJ, Mukhopadhyay D, Vibhute P, Wszolek ZK, Zubair AC, Quinones-Hinojosa A, Kanekiyo T. Secretome from iPSC-derived MSCs exerts proangiogenic and immunosuppressive effects to alleviate radiation-induced vascular endothelial cell damage. Stem Cell Res Ther. 2024 Jul 29; 15 (1):230 Epub 2024 July 29
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11. Soto-Pina AE, Pulido-Alvarado CC, Dulski J, Wszolek ZK, Magana JJ. Specific Biomarkers in Spinocerebellar Ataxia Type 3: A Systematic Review of Their Potential Uses in Disease Staging and Treatment Assessment. Int J Mol Sci. 2024 Jul 24; 25 (15) Epub 2024 July 24
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12. Murakami A, Koga S, Fujioka S, White AE, Bieniek KF, Sekiya H, DeJesus-Hernandez M, Finch NA, van Blitterswijk M, Nakamura M, Tsuboi Y, Murray ME, Wszolek ZK, Dickson DW. Upper motor neuron-predominant motor neuron disease presenting as atypical parkinsonism: A clinicopathological study. Brain Pathol. 2024 Jul 10; e13286 Epub 2024 July 10
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13. Chia R, Ray A, Shah Z, Ding J, Ruffo P, Fujita M, Menon V, Saez-Atienzar S, Reho P, Kaivola K, Walton RL, Reynolds RH, Karra R, Sait S, Akcimen F, Diez-Fairen M, Alvarez I, Fanciulli A, Stefanova N, Seppi K, Duerr S, Leys F, Krismer F, Sidoroff V, Zimprich A, Pirker W, Rascol O, Foubert-Samier A, Meissner WG, Tison F, Pavy-Le Traon A, Pellecchia MT, Barone P, Russillo MC, Marin-Lahoz J, Kulisevsky J, Torres S, Mir P, Perinan MT, Proukakis C, Chelban V, Wu L, Goh YY, Parkkinen L, Hu MT, Kobylecki C, Saxon JA, Rollinson S, Garland E, Biaggioni I, Litvan I, Rubio I, Alcalay RN, Kwei KT, Lubbe SJ, Mao Q, Flanagan ME, Castellani RJ, Khurana V, Ndayisaba A, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Moore A, Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Kim C, Iba M, Masliah E, Dawson TM, Rosenthal LS, Pantelyat A, Albert MS, Pletnikova O, Troncoso JC, Infante J, Lage C, Sanchez-Juan P, Serrano GE, Beach TG, Pastor P, Morris HR, Albani D, Clarimon J, Wenning GK, Hardy JA, Ryten M, Topol E, Torkamani A, Chio A, Bennett DA, De Jager PL, Low PA, Singer W, Cheshire WP, Wszolek ZK, Dickson DW, Traynor BJ, Gibbs JR, Dalgard CL, Ross OA, Houlden H, Scholz SW. Genome sequence analyses identify novel risk loci for multiple system atrophy. Neuron. 2024 Jul 3; 112 (13):2142-2156.e5 Epub 2024 May 02
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14. Middlebrooks EH, Tipton PW, Greco E, Okromelidze L, Patel V, Wszolek ZK, Zhou X, Tao S, Westerhold EM, Straub S, Uitti RJ, Sandhu SJS, Quinones-Hinojosa A, Grewal SS. Enhancing outcomes in deep brain stimulation: a comparative study of direct targeting using 7T versus 3T MRI. J Neurosurg. 2024 Jul 1; 141 (1):252-259 Epub 2024 Feb 23
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15. Hop PJ, Lai D, Keagle PJ, Baron DM, Kenna BJ, Kooyman M, Shankaracharya Shankaracharya, Halter C, Straniero L, Asselta R, Bonvegna S, Soto-Beasley AI, Wszolek ZK, Uitti RJ, Isaias IU, Pezzoli G, Ticozzi N, Ross OA, Veldink JH, Foroud TM, Kenna KP, Landers JE, Project MinE ALS Sequencing Consortium. Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease. Nat Genet. 2024 Jul; 56 (7):1371-1376 Epub 2024 June 10
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16. Paolillo EW, Casaletto KB, Clark AL, Taylor JC, Heuer HW, Wise AB, Dhanam S, Sanderson-Cimino M, Saloner R, Kramer JH, Kornak J, Kremers W, Forsberg L, Appleby B, Bayram E, Bozoki A, Brushaber D, Darby RR, Day GS, Dickerson BC, Domoto-Reilly K, Elahi F, Fields JA, Ghoshal N, Graff-Radford N, G H Hall M, Honig LS, Huey ED, Lapid MI, Litvan I, Mackenzie IR, Masdeu JC, Mendez MF, Mester C, Miyagawa T, Naasan G, Pascual B, Pressman P, Ramos EM, Rankin KP, Rexach J, Rojas JC, VandeVrede L, Wong B, Wszolek ZK, Boeve BF, Rosen HJ, Boxer AL, Staffaroni AM, ALLFTD Consortium. Examining Associations Between Smartphone Use and Clinical Severity in Frontotemporal Dementia: Proof-of-Concept Study. JMIR Aging. 2024 Jun 26; 7:e52831 Epub 2024 June 26
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17. Dulski J, Jiang P, Lin WL, Dickson DW, Wszolek ZK. Assessment of Skin Biopsy as a Diagnostic Biomarker in CSF1R-Related Disorder. Neurology. 2024 Jun 11; 102 (11):e209437 Epub 2024 May 17
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18. Schormair B, Zhao C, Bell S, Didriksen M, Nawaz MS, Schandra N, Stefani A, Hogl B, Dauvilliers Y, Bachmann CG, Kemlink D, Sonka K, Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Teder-Laving M, Metspalu A, Hadjigeorgiou GM, Polo O, Fietze I, Ross OA, Wszolek ZK, Ibrahim A, Bergmann M, Kittke V, Harrer P, Dowsett J, Chenini S, Ostrowski SR, Sorensen E, Erikstrup C, Pedersen OB, Topholm Bruun M, Nielsen KR, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, Danesh J, Burchell B, Furlotte NA, Nandakumar P, Earley CJ, Ondo WG, Xiong L, Desautels A, Perola M, Vodicka P, Dina C, Stoll M, Franke A, Lieb W, Stewart AFR, Shah SH, Gieger C, Peters A, Rye DB, Rouleau GA, Berger K, Stefansson H, Ullum H, Stefansson K, Hinds DA, Di Angelantonio E, Oexle K, Winkelmann J, 23andMe Research Team//D.E.S.I.R. study group. Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction. Nat Genet. 2024 Jun; 56 (6):1090-1099 Epub 2024 June 05
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19. Al-Dalahmah O, Lam M, McInvale JJ, Qu W, Nguyen T, Mun JY, Kwon S, Ifediora N, Mahajan A, Humala N, Winters T, Angeles E, Jakubiak KA, Kuhn R, Kim YA, De Rosa MC, Doege CA, Paryani F, Flowers X, Dovas A, Mela A, Lu H, DeTure MA, Vonsattel JP, Wszolek ZK, Dickson DW, Kuhlmann T, Zaehres H, Scholer HR, Sproul AA, Siegelin MD, De Jager PL, Goldman JE, Menon V, Canoll P, Hargus G. Osteopontin drives neuroinflammation and cell loss in MAPT-N279K frontotemporal dementia patient neurons. Cell Stem Cell. 2024 May 2; 31 (5):676-693.e10 Epub 2024 Apr 15
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20. Watzlawik JO, Fiesel FC, Fiorino G, Bustillos BA, Baninameh Z, Markham BN, Hou X, Hayes CS, Bredenberg JM, Kurchaba NW, Fricova D, Siuda J, Wszolek ZK, Noda S, Sato S, Hattori N, Prasad AA, Kirik D, Fox HS, Stauch KL, Goldberg MS, Springer W. Basal activity of PINK1 and PRKN in cell models and rodent brain. Autophagy. 2024 May; 20 (5):1147-1158 Epub 2023 Dec 02
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21. Brushaber D, Dickson D, Gavrilova R, Gendron T, Goldman J, Graff-Radford J, Huang E, Johnson N, Kantarci K, Knopman D, Petrucelli L, Rademakers R, Savica R, Tipton PW, Wszolek ZK, Botha H, Staffaroni AM, Clark AL, Taylor JC, Heuer HW, Sanderson-Cimino M, Wise AB, Dhanam S, Cobigo Y, Wolf A, Manoochehri M, Forsberg L, Mester C, Rankin KP, Appleby BS, Bayram E, Bozoki A, Clark D, Darby RR, Domoto-Reilly K, Fields JA, Galasko D, Geschwind D, Ghoshal N, Graff-Radford N, Grossman M, Hsiung GY, Huey ED, Jones DT, Lapid MI, Litvan I, Masdeu JC, Massimo L, Mendez MF, Miyagawa T, Pascual B, Pressman P, Ramanan VK, Ramos EM, Rascovsky K, Roberson ED, Tartaglia MC, Wong B, Miller BL, Kornak J, Kremers W, Hassenstab J, Kramer JH, Boeve BF, Rosen HJ, Boxer AL, ALLFTD Consortium. Reliability and Validity of Smartphone Cognitive Testing for Frontotemporal Lobar Degeneration. JAMA Netw Open. 2024 Apr 1; 7 (4):e244266 Epub 2024 Apr 01
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22. Dulski J, Muthusamy K, Lund TC, Wszolek ZK. CSF1R-related disorder: State of the art, challenges, and proposition of a new terminology. Parkinsonism Relat Disord. 2024 Apr; 121:105894 Epub 2023 Oct 10
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23. Walton RL, Koga S, Beasley AI, White LJ, Griesacker T, Murray ME, Kasanuki K, Hou X, Fiesel FC, Springer W, Uitti RJ, Fields JA, Botha H, Ramanan VK, Kantarci K, Lowe VJ, Jack CR, Ertekin-Taner N, Savica R, Graff-Radford J, Petersen RC, Parisi JE, Reichard RR, Graff-Radford NR, Ferman TJ, Boeve BF, Wszolek ZK, Dickson DW, Ross OA, Heckman MG. Role of GBA variants in Lewy body disease neuropathology. Acta Neuropathol. 2024 Mar 12; 147 (1):54
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24. Badihian N, Savica R, Adler CH, Wszolek ZK, Jackson LM, Benarroch EE, Sandroni P, Low PA, Singer W, Coon EA. Clinical Characteristics and Outcomes in Young-Onset Multiple System Atrophy. Mov Disord Clin Pract. 2024 Mar; 11 (3):220-226 Epub 2023 Nov 23
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25. Sekiya H, Koga S, Murakami A, DeTure M, Ross OA, Uitti RJ, Cheshire WP, Wszolek ZK, Dickson DW. Frequency of Comorbid Pathologies and Their Clinical Impact in Multiple System Atrophy. Mov Disord. 2024 Feb; 39 (2):380-390 Epub 2023 Nov 20
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26. Dulski J, Uitti RJ, Beasley A, Hernandez D, Ramanan VK, Cahn EJ, Ren Y, Johnson PW, Quicksall ZS, Wszolek ZK, Ross OA, Heckman MG. Genetics of Parkinson's disease heterogeneity: A genome-wide association study of clinical subtypes. Parkinsonism Relat Disord. 2024 Feb; 119:105935 Epub 2023 Nov 26
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27. Corriveau-Lecavalier N, Tosakulwong N, Lesnick TG, Fought AJ, Reid RI, Schwarz CG, Senjem ML, Jack CR Jr, Jones DT, Vemuri P, Rademakers R, Ramos EM, Geschwind DH, Knopman DS, Botha H, Savica R, Graff-Radford J, Ramanan VK, Fields JA, Graff-Radford N, Wszolek Z, Forsberg LK, Petersen RC, Heuer HW, Boxer AL, Rosen HJ, Boeve BF, Kantarci K, ALLFTD consortium. Neurite-based white matter alterations in MAPT mutation carriers: A multi-shell diffusion MRI study in the ALLFTD consortium. Neurobiol Aging. 2024 Feb; 134:135-145 Epub 2023 Dec 10
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28. Dulski J, Middlebrooks EH, Wszolek ZK. Novel Neuroimaging Pattern in POLR3A-Related Disorder on 7T MRI. Neurol Genet. 2024 Feb; 10 (1):e200125 Epub 2024 Jan 10
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29. Marks JD, Ayuso VE, Carlomagno Y, Yue M, Todd TW, Hao Y, Li Z, McEachin ZT, Shantaraman A, Duong DM, Daughrity LM, Jansen-West K, Shao W, Calliari A, Bejarano JG, DeTure M, Rawlinson B, Casey MC, Lilley MT, Donahue MH, Jawahar VM, Boeve BF, Petersen RC, Knopman DS, Oskarsson B, Graff-Radford NR, Wszolek ZK, Dickson DW, Josephs KA, Qi YA, Seyfried NT, Ward ME, Zhang YJ, Prudencio M, Petrucelli L, Cook CN. TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia. Sci Transl Med. 2024 Jan 17; 16 (730):eadf9735
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30. Lakhani DA, Zhou X, Tao S, Patel V, Wen S, Okromelidze L, Greco E, Lin C, Westerhold EM, Straub S, Wszolek ZK, Tipton PW, Uitti RJ, Grewal SS, Middlebrooks EH. Diagnostic utility of 7T neuromelanin imaging of the substantia nigra in Parkinson's disease. NPJ Parkinsons Dis. 2024 Jan 08; 10(1):13.
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31. Dulski J, Ross OA, Wszolek ZK. Genetics of Parkinson's Disease: state-of-the-art and role in clinical settings. Neurol Neurochir Pol. 2024; 58 (1):38-46 Epub 2024 Jan 04
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32. Dulski J, Middlebrooks EH, Wszolek ZK. PINK1-PD: A compound heterozygote of Filipino ancestry and 7 Tesla MRI findings. Parkinsonism Relat Disord 2024 Jan; 118:105948 Epub 2023 Nov 30
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33. Mannheim JG, Fu JF, Wegener T, Klyuzhin IS, Vafai N, Shahinfard E, McKenzie J, Strongosky A, Wszolek ZK, Jon Stoessl A, Sossi V. Multi-tracer PET correlation analysis reveals disease-specific patterns in Parkinson's disease and asymptomatic LRRK2 pathogenic variant carriers compared to healthy controls. Neuroimage Clin. 2024; 42:103600 Epub 2024 Apr 01
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34. Papapetropoulos S, Gelfand JM, Konno T, Ikeuchi T, Pontius A, Meier A, Foroutan F, Wszolek ZK. Clinical presentation and diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: a literature analysis of case studies. Front Neurol. 2024; 15:1320663 Epub 2024 Mar 11
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35. Sekiya H, Koga S, Murakami A, Kawazoe M, Kim M, Martin NB, Uitti RJ, Cheshire WP, Wszolek ZK, Dickson DW. Validation Study of the MDS Criteria for the Diagnosis of Multiple System Atrophy in the Mayo Clinic Brain Bank. Neurology. 2023 Dec 12; 101 (24):e2460-e2471 Epub 2023 Oct 10
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36. Dulski J, Soto-Beasley AI, Uitti RJ, Wszolek ZK, Ross OA. PTPA variants are rare in early-onset and familial Parkinson's disease. Brain 2023 Dec 1; 146 (12):e125-e127
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37. Chitu V, Biundo F, Oppong-Asare J, Gokhan S, Aguilan JT, Dulski J, Wszolek ZK, Sidoli S, Stanley ER. Prophylactic effect of chronic immunosuppression in a mouse model of CSF-1 receptor-related leukoencephalopathy. Glia. 2023 Nov; 71 (11):2664-2678 Epub 2023 July 30
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38. Burgess JD, Amerna D, Norton ES, Parsons TM, Perkerson RB 3rd, Faroqi AH, Wszolek ZK, Guerrero Cazares H, Kanekiyo T, Delenclos M, McLean PJ. A mutant methionyl-tRNA synthetase-based toolkit to assess induced-mesenchymal stromal cell secretome in mixed-culture disease models. Stem Cell Res Ther. 2023 Oct 5; 14 (1):289 Epub 2023 Oct 05
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39. Zhang L, Flagan TM, Hakkinen S, Chu SA, Brown JA, Lee AJ, Pasquini L, Mandelli ML, Gorno-Tempini ML, Sturm VE, Yokoyama JS, Appleby BS, Cobigo Y, Dickerson BC, Domoto-Reilly K, Geschwind DH, Ghoshal N, Graff-Radford NR, Grossman M, Hsiung GR, Huey ED, Kantarci K, Lario Lago A, Litvan I, Mackenzie IR, Mendez MF, Onyike CU, Ramos EM, Roberson ED, Tartaglia MC, Toga AW, Weintraub S, Wszolek ZK, Forsberg LK, Heuer HW, Boeve BF, Boxer AL, Rosen HJ, Miller BL, Seeley WW, Lee SE, ARTFL/LEFFTDS/ALLFTD Consortia. Network Connectivity Alterations across the MAPT Mutation Clinical Spectrum. Ann Neurol. 2023 Oct; 94 (4):632-646 Epub 2023 Aug 23
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40. Hou X, Chen TH, Koga S, Bredenberg JM, Faroqi AH, Delenclos M, Bu G, Wszolek ZK, Carr JA, Ross OA, McLean PJ, Murray ME, Dickson DW, Fiesel FC, Springer W. Alpha-synuclein-associated changes in PINK1-PRKN-mediated mitophagy are disease context dependent. Brain Pathol. 2023 Sep; 33 (5):e13175 Epub 2023 May 31
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41. Dulski J, Heckman MG, Nowak JM, Wszolek ZK. Protective Effect of Glucocorticoids against Symptomatic Disease in CSF1R Variant Carriers. Mov Disord. 2023 Aug; 38 (8):1545-1549 Epub 2023 June 13
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42. Dulski J, Koga S, Liberski PP, Sitek EJ, Butala AA, Slawek J, Dickson DW, Wszolek ZK. Perry Disease: Expanding the Genetic Basis. Mov Disord Clin Pract. 2023 Jul; 10 (7):1136-1142 Epub 2023 June 22
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43. Dulski J, Koga S, Prudencio M, Tipton PW, Ali S, Strongosky AJ, Rose JH, Parrales ZA, Dunmore JA, Jansen-West K, Petrucelli L, Dickson DW, Wszolek ZK. Perry syndrome: Novel DCTN1 mutation in a large kindred and first observation of prodromal disease. Parkinsonism Relat Disord. 2023 Jul; 112:105481 Epub 2023 June 13
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44. Toller G, Cobigo Y, Callahan P, Appleby BS, Brushaber D, Domoto-Reilly K, Forsberg LK, Ghoshal N, Graff-Radford J, Graff-Radford NR, Grossman M, Heuer HW, Kornak J, Kremers W, Lapid MI, Leger G, Litvan I, Mackenzie IR, Pascual MB, Ramos EM, Rascovsky K, Rojas JC, Staffaroni AM, Tartaglia MC, Toga A, Weintraub S, Wszolek ZK, Boeve BF, Boxer AL, Rosen HJ, Rankin KP, ALLFTD consortium. Multisite ALLFTD study modeling progressive empathy loss from the earliest stages of behavioral variant frontotemporal dementia. Alzheimers Dement. 2023 Jul; 19 (7):2842-2852 Epub 2023 Jan 02
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45. Dulski J, Souza J, Santos ML, Wszolek ZK. Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP. Orphanet J Rare Dis. 2023 Jun 22; 18 (1):160 Epub 2023 June 22
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46. Kaivola K, Chia R, Ding J, Rasheed M, Fujita M, Menon V, Walton RL, Collins RL, Billingsley K, Brand H, Talkowski M, Zhao X, Dewan R, Stark A, Ray A, Solaiman S, Alvarez Jerez P, Malik L, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Masellis M, Keith J, Black SE, Ferrucci L, Resnick SM, Tanaka T, Topol E, Torkamani A, Tienari P, Foroud TM, Ghetti B, Landers JE, Ryten M, Morris HR, Hardy JA, Mazzini L, D'Alfonso S, Moglia C, Calvo A, Serrano GE, Beach TG, Ferman T, Graff-Radford NR, Boeve BF, Wszolek ZK, Dickson DW, Chio A, Bennett DA, De Jager PL, Ross OA, Dalgard CL, Gibbs JR, Traynor BJ, Scholz SW, American Genome Center//International LBD Genomics Consortium//International ALS/FTD Consortium//PROSPECT Consortium. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias. Cell Genom. 2023 Jun 14; 3 (6):100316 Epub 2023 May 04
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47. Fiesel FC, Fricova D, Hayes CS, Coban MA, Hudec R, Bredenberg JM, Broadway BJ, Markham BN, Yan T, Boneski PK, Fiorino G, Watzlawik JO, Hou X, McCarty AM, Lewis-Tuffin LJ, Zhong J, Madden BJ, Ordureau A, An H, Puschmann A, Wszolek ZK, Ross OA, Harper JW, Caulfield TR, Springer W. Substitution of PINK1 Gly411 modulates substrate receptivity and turnover. Autophagy. 2023 Jun; 19 (6):1711-1732 Epub 2022 Dec 05
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48. Dulski J, Strongosky AJ, Al-Shaikh RH, Wszolek ZK. Expanding the spectrum of KIF5A mutations-case report of a large kindred with familial ALS and overlapping syndrome. Amyotroph Lateral Scler Frontotemporal Degener. 2023 May; 24 (3-4):347-350 Epub 2023 Jan 05
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49. Biundo F, Chitu V, Tindi J, Burghardt NS, Shlager GGL, Ketchum HC, DeTure MA, Dickson DW, Wszolek ZK, Khodakhah K, Stanley ER. Elevated granulocyte colony stimulating factor (CSF) causes cerebellar deficits and anxiety in a model of CSF-1 receptor related leukodystrophy. Glia. 2023 Mar; 71 (3):775-794 Epub 2022 Nov 26
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50. Dulski J, Koga S, Dickson DW, Wszolek ZK. Report of A Family with Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) Without Mutations in CSF1R, AARS1 or AARS2. Mov Disord Clin Pract. 2023 Feb; 10 (2):307-312 Epub 2023 Jan 10
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425. Nishioka K, Wider C, Vilariño-Güell C, Soto-Ortolaza AI, Lincoln SJ, Kachergus JM, Jasinska-Myga B, Ross OA, Rajput A, Robinson CA, Ferman TJ, Wszolek ZK, Dickson DW, Farrer MJ. Association of α-, β-, and γ-synuclein with diffuse Lewy body disease. Arch Neurol. 2010; 67:970-975.
     
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564. Ferman TJ, McRae CA, Arvanitakis Z, Tsuboi Y, Vo A, Wszolek ZK. Early and pre-symptomatic neuropsychological dysfunction in the PPND family with the N279K tau mutation. Parkinsonism Relat Disord. 2003 Jun; 9 (5):265-70
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567. Krygowska-Wajs A, Hussey JM, Hulihan M, Farrer MJ, Tsuboi Y, Uitti RJ, Wszolek ZK. Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci. Parkinsonism Relat Disord. 2003 Mar; 9(4):193-200.
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568. Tsuboi Y, Wszolek ZK, Mizuno Y, Kobayashi T, Yasuda M, Yamada T. Japanese contribution to the understanding of frontotemporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17). Brain & Nerve (Tokyo). 2003 Feb; 55: (2)107-19.
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570. Caviness JN, Tsuboi Y, Wszolek ZK. Clinical-electrophysiological correlation of tremor and myoclonus in a kindred with the N279K tau mutation. Parkinsonism Relat Disord. 2003 Jan; 9 (3):151-7
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571. Uitti RJ, Wszolek ZK. Dopamine agonists, sleep disorders, and driving in Parkinson's disease. Adv Neurol. 2003; 91:343-9.
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572. Wszolek ZK, Krygowska-Wajs A, Barcikowska M. [Fronto-temporal dementia and parkinsonism linked to chromosome 17 (FTDP-17): clinical criteria]. Neurol Neurochir Pol. 2003 Jan-Feb; 37: (1)173-84.
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573. Wszolek ZK, Tsuboi Y, Farrer M, Uitti RJ, Hutton ML. Hereditary tauopathies and parkinsonism. Adv Neurol. 2003; 91:153-63.
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574. Tsuboi Y, Baker M, Hutton ML, Uitti RJ, Rascol O, Delisle MB, Soulages X, Murrell JR, Ghetti B, Yasuda M, Komure O, Kuno S, Arima K, Sunohara N, Kobayashi T, Mizuno Y, Wszolek ZK. Clinical and genetic studies of families with the tau N279K mutation (FTDP-17). Neurology. 2002 Dec 10; 59 (11):1791-3
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575. Uitti RJ, Tsuboi Y, Pooley RA, Putzke JD, Turk MF, Wszolek ZK, Witte RJ, Wharen RE. Magnetic resonance imaging and deep brain stimulation. Neurosurgery. 2002 Dec; 51(6):1423-8.
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576. Cheshire WP, Tsuboi Y, Wszolek ZK. Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17. Auton Neurosci. 2002 Nov 29; 102 (1-2):71-7
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577. Furtado S, Farrer M, Tsuboi Y, Klimek ML, de la Fuente-Fernandez R, Hussey J, Lockhart P, Calne DB, Suchowersky O, Stoessl AJ, Wszolek ZK. SCA-2 presenting as parkinsonism in an Alberta family - Clinical, genetic, and PET findings. Neurology. 2002 Nov 26; 59(10):1625-7.
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578. Hussey J, Lockhart PJ, Seltzer W, Wszolek ZK, Payami H, Hanson M, Gwinn-Hardy K, Farrer M. Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats. Genet Test. 2002 Fall; 6(3):217-20.
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580. Tsuboi Y, Wszolek ZK, Kusuhara T, Doh-ura K, Yamada T. Japanese family with parkinsonism, depression, weight loss, and central hypoventilation. Neurology. 2002 Apr 9; 58 (7):1025-30
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585. West AB, Zimprich A, Lockhart PJ, Farrer M, Singleton A, Holtom B, Lincoln S, Hofer A, Hill L, Müller-Myhsok B, Wszolek ZK, Hardy J, Gasser T. Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes. Eur J Hum Genet. 2001 Sep; 9(9):659-66.
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586. Arvanitakis Z, Wszolek ZK. Recent advances in the understanding of tau protein and movement disorders. Curr Opin Neurol. 2001 Aug; 14 (4):491-7
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587. Wszolek ZK, Kardon RH, Wolters EC, Pfeiffer RF. Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17): PPND family. A longitudinal videotape demonstration. Mov Disord. 2001 Jul; 16 (4):756-60
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588. Wszolek ZK, Chabolla DR, Rubino FA. Nonconvulsive status epilepticus in a patient with mental status changes. Am J Electroneurodiagn Technol. 2001 Jun; 41(2):136-141.
     
589. Pal PK, Wszolek ZK, Kishore A, de la Fuente-Fernandez R, Sossi V, Uitti RJ, Dobko T, Stoessl AJ. Positron emission tomography in pallido-ponto-nigral degeneration (PPND) family (frontotemporal dementia with parkinsonism linked to chromosome 17 and point mutation in tau gene). Parkinsonism Relat Disord. 2001 Apr; 7(2):81-8.
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591. Reed LA, Wszolek ZK, Hutton M. Phenotypic correlations in FTDP-17. Neurobiol Aging. 2001 Jan-Feb; 22(1):89-107.
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592. Wszolek ZK, Uitti RJ, Markopoulou K. Familial Parkinson's disease and related conditions - Clinical genetics. Adv Neurol. 2001; (86):33-43.
     
593. Zink M, Grim L, Wszolek ZK, Gasser T. Autosomal-dominant Parkinson's disease linked to 2p13 is not caused by mutations in transforming growth factor alpha (TGF alpha) (short communication). J Neural Transm. 2001; 108(8-9):1029-34.
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594. Uitti RJ, Wharen RE, Duffy JR, Lucas JA, Schneider SL, Rippeth JD, Wszolek ZK, Obwegeser AA, Turk MF, Atkinson EJ. Unilateral pallidotomy for Parkinson's disease: speech, motor, and neuropsychological outcome measurements. Parkinsonism Relat Disord. 2000 Jul 1; 6 (3):133-143
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595. Lynch HT, McComb RD, Osborn NK, Wolpert PA, Lynch JF, Wszolek ZK, Sidransky D, Steg RE. Predominance of brain tumors in an extended Li-Fraumeni (SBLA) kindred, including a case of Sturge-Weber syndrome. Cancer. 2000 Jan 15; 88(2):433-9.
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596. Samii A, Markopoulou K, Wszolek ZK, Sossi V, Dobko T, Mak E, Calne DB, Stoessl AJ. PET studies of parkinsonism associated with mutation in the alpha-synuclein gene. Neurology. 1999 Dec 10; 53(9):2097-102.
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597. Wszolek ZK, Markopoulou K. Molecular genetics of familial parkinsonism. Parkinsonism Relat Disord. 1999 Dec; 5 (4):145-55
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598. Steg RE, Kessinger A, Wszolek ZK. Cortical blindness and seizures in a patient receiving FK506 after bone marrow transplantation. Bone Marrow Transplant. 1999 May; 23(9):959-62.
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599. Uitti RJ, Wszolek ZK. Medical treatment of Parkinson's disease. Neurosci News. 1999; 2(3-4):36-43.
     
600. Wszolek ZK, Koller WC. Rare and unusual parkinsonian syndromes. Adv Neurol. 1999; 80:369-76.
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601. Wszolek ZK, Uitti RJ. The clinical genetics of Parkinson's disease. Neurosci News. 1999; 2(3-4):66-72.
     
602. Markopoulou K, Wszolek ZK, Pfeiffer RF, Chase BA. Reduced expression of the G209A β-synuclein allele in familial parkinsonism. Ann Neurol. 1999; 46:374-81.
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603. Hong M, Zhukareva V, Vogelsberg-Ragaglia V, Wszolek Z, Reed L, Miller BI, Geschwind DH, Bird TD, McKeel D, Goate A, Morris JC, Wilhelmsen KC, Schellenberg GD, Trojanowski JQ, Lee VM. Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17. Science. 1998 Dec 4; 282(5395):1914-7.
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605. Wszolek ZK, Lagerlund TD, Steg RE, McManis PG. Clinical neurophysiologic findings in patients with rapidly progressive familial parkinsonism and dementia with pallido-ponto-nigral degeneration. Electroencephalography & Clinical Neurophysiology. 1998 Sep; 107(3):213-22.
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606. Reed LA, Schmidt ML, Wszolek ZK, Balin BJ, Soontornniyomkij V, Lee VM, Trojanowski JQ, Schelper RL. The neuropathology of a chromosome 17-linked autosomal dominant parkinsonism and dementia ("pallido-ponto-nigral degeneration"). Journal of Neuropathology & Experimental Neurology. 1998 Jun; 57(6):588-601.
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608. Gasser T, Muller-Myhsok B, Wszolek ZK, Oehlmann R, Calne DB, Bonifati V, Bereznai B, Fabrizio E, Vieregge P, Horstmann RD. A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat Genet. 1998 Mar; 18(3):262-5.
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609. Wszolek ZK, Markopoulou K. Olfactory dysfunction in Parkinson's disease. Clin Neurosci. 1998; 5(2):94-101.
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610. Markopoulou K, Larsen KW, Wszolek EK, Denson MA, Lang AE, Pfeiffer RF, Wszolek ZK. Olfactory dysfunction in familial parkinsonism. Neurology. 1997 Nov; 49(5):1262-7.
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612. Denson MA, Wszolek ZK, Pfeiffer RF, Wszolek EK, Paschall TM, McComb RD. Familial parkinsonism, dementia, and Lewy body disease: study of family G. Ann Neurol. 1997 Oct; 42(4):638-43.
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613. Wszolek ZK, Steg RE, Armitage JO. Complex partial status epilepticus after bone marrow transplantation for non-Hodgkin's lymphoma. Bone Marrow Transplant. 1997 Mar; 19(6):637-8.
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614. Wszolek ZK, Steg RE. Seizures after orthotopic liver transplantation. Seizure. 1997 Feb; 6(1):31-9.
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615. Soria ED, Conrad DE, Wszolek ZK. The assessment of sleep disorders by polysomnography. Adv Clin Neurosci. 1997; 7:249-68.
     
616. Calne DB, Deutch A, Gasser T, Goldstein M, Guttman M, Mizumo Y, Yahr M, Wszolek Z. Genes and Parkinson's disease. Parkinson Network. 1997; 82:17-18.
     
617. Wszolek ZK, Lynch T, Wilhelmsen KC. Rapidly progressive autosomal dominant Parkinsonism and dementia with Pallido-Ponto-Nigral degeneration (PPND) and disinhibition- dementia- Parkinsonism-amyotrophy complex (DDPAC) are clinically distinct conditions that are both linked to 17Q21-22. Parkinsonism & Related Disorders. 1997; 3:67-76.
     
618. Foster NL, Wilhelmsen K, Sima AAF, Jones MZ, D'Amato JC, Gilman S, Wszolek Z, et al. Frontotemporal dementia and Parkinsonism linked to chromosome 17: a consensus conference. Ann Neurol. 1997; 41:706-715.
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620. Edwards LL, Wszolek ZK, Normand MM. Neurophysiologic evaluation of cyclosporine toxicity associated with bone marrow transplantation. Acta Neurol Scand. 1996 Nov; 94(5):358-64.
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622. Wszolek ZK, McCashland TM, Witte RJ, Brandenberg GA, Steg RE. Spinal epidural abscess in a liver transplant recipient. Transplant Proc. 1996 Oct; 28(5):2978-9.
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623. Chelimsky G, Wszolek Z, Chelimsky TC. Gastrointestinal dysfunction in autonomic neuropathy. Semin Neurol. 1996 Sep; 16(3):259-68.
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624. Pavletic ZS, Bishop MR, Markopoulou K, Wszolek ZK. Drug-induced parkinsonism after allogeneic bone marrow transplantation. Bone Marrow Transplant. 1996 Jun; 17(6):1185-7.
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625. Markopoulou K, Chase BA, Wszolek ZK. Molecular genetics and pathogenesis of neurodegenerative diseases. Adv Clin Neurosci. 1996; 6:217-33.
     
626. Ashraf W, Wszolek ZK, Pfeiffer RF, Quigley EMM, Normand M, Srb F, Maurer K. Anorectal function in fluctuating (on-off) Parkinson's disease: evaluation by combined anorectal manometry and electromyography. Parkinson's Disease/Alzheimer's Digest. 1996; 3:16-17.
     
627. Wszolek ZK, Peeiffer RF, Denson MA, McComb RD. Danish-American family (family E) with 'Parkinson's Disease': Pitfalls of genetic studies. Parkinsonism Relat Disord. 1996 Jan; 2(1):47-9.
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628. Steg RE, Wszolek ZK. Electroencephalographic abnormalities in liver transplant recipients: practical considerations and review. J Clin Neurophysiol. 1996 Jan; 13(1):60-8.
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629. Wijker M, Wszolek ZK, Wolters EC, Rooimans MA, Pals G, Pfeiffer RF, Lynch T, Rodnitzky RL, Wilhelmsen KC, Arwert F. Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. Hum Mol Genet. 1996 Jan; 5(1):151-4.
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630. Gasser T, Wszolek Z, Supala A, Trofatter J, Ozelius L, Uitti RJ, Pfeiffer RF, Gusella J, Calne D, Breakefield XO. Genetic linkage studies in autosomal dominantly inherited L-DOPA responsive parkinsonism. Evaluation of candidate genes. Adv Neurol. 1996; 69:87-95.
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631. Wszolek ZK, Steg RE. Seizures after liver transplantation. Liver Transplantation & Surgery. 1995 Sep; 1(5):334-9.
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633. Markopoulou K, Wszolek ZK, Pfeiffer RF. A Greek-American kindred with autosomal dominant, levodopa-responsive parkinsonism and anticipation. Ann Neurol. 1995 Sep; 38(3):373-8.
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634. Ellingson RJ, Wszolek ZK, Kendall JD, Donovan JP, Schafer DF. Brainstem auditory evoked potentials in liver transplant candidates. Nebr Med J. 1995 Jul; 80(7):167-70.
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635. Normand MM, Wszolek ZK, Klass DW. Temporal intermittent rhythmic delta activity in electroencephalograms. J Clin Neurophysiol. 1995 May; 12 (3):280-4
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636. Edwards LL, Normand MM, Wszolek ZK. Cervical dystonia: a review the role of botulinum toxin. Nebr Med J. 1995 May; 80(5):109-15.
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637. Wszolek ZK, Pfeiffer B, Fulgham JR, Parisi JE, Thompson BM, Uitti RJ, Calne DB, Pfeiffer RF. Western Nebraska family (family D) with autosomal dominant parkinsonism. Neurology. 1995 Mar; 45(3 Pt 1):502-5.
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638. Wszolek ZK, Groover RV, Klass DW. Seizures presenting as episodic hypersomnolence. Epilepsia. 1995 Jan; 36 (1):108-10
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639. Wilhelmsen KC, Wszolek ZK. Is there a genetic susceptibility to idiopathic Parkinsonism? Parkinsonism & Related Disorders. 1995; 1:73-84.
     
640. Denson MA, Wszolek ZK. Familial Parkinsonism: our experience and review. Parkinsonism & Related Disorders. 1995; 1:35-46.
     
641. Edwards LL, Wszolek ZK, Normand MM. Neurophysiologic evaluation of cyclosporine toxicity associated with bone marrow transplantation. Acta Neurol Scand. 1995; 92:423-9.
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642. Gasser T, Wszolek ZK, Trofatter J, Ozelius L, Uitti RJ, Lee CS, Gusella J, Pfeiffer RF, Calne DB, Breakefield XO. Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes. Ann Neurol. 1994 Sep; 36(3):387-96.
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643. Wszolek ZK, Denson MD. Brain imaging sometimes helpful in Parkinson's disease evaluation. Focus on Parkinson's Disease Parkinson Awareness Center UNMC. 1994; 6:4-5.
     
644. Wszolek ZK, Cordes M, Calne DB, Munter MD, Cordes I, Pfeifer RF. [Hereditary Parkinson disease: report of 3 families with dominant autosomal inheritance]. [German]. Nervenarzt. 1993 May; 64(5):331-5.
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645. Yamada T, McGeer EG, Schelper RL, Wszolek ZK, McGeer PL, Pfeiffer RF, Rodnitzky RL. Histological and biochemical pathology in a family with autosomal dominant Parkinsonism and dementia. Neurology, Psychiatry, and Brain Research. 1993; 2:26-35.
     
646. Cordes M, Wszolek ZK, Pfeiffer RF, Calne DB. Examination of the presynaptic dopaminergic system using positron emission tomography in a family with autosomal dominant Parkinsonism and dementia due to Pallido-Ponto-Nigral degeneration (PPND). Radio diag. 1993; 34:141-145.
     
647. Wszolek ZK, Denson MD. Familial Parkinsonism studied at UNMC. Focus on Parkinson's Disease Parkinson Awareness Center UNMC. 1993; 5:4-5.
     
648. Wszolek ZK, et al. Rapidly progressive autosomal dominant Parkinsonism and dementia with Pallido-Ponto-Nigral degeneration. Focus on Parkinson's Disease. 1993; 5:65-66.
     
649. Wszolek ZK, Pfeiffer RF, Bhatt MH, Schelper RL, Cordes M, Snow BJ, Rodnitzky RL, Wolters EC, Arwert F, Calne DB. Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. Ann Neurol. 1992 Sep; 32(3):312-20.
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650. Wszolek ZK, Pfeiffer RF. Genetic considerations in movement disorders. Current Opinion in Neurology & Neurosurgery. 1992 Jun; 5(3):324-30.
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651. Herkes GK, Wszolek ZK, Westmoreland BF, Klass DW. Effects of midazolam on electroencephalograms of seriously ill patients. Mayo Clin Proc. 1992 Apr; 67 (4):334-8
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652. Cordes M, Wszolek ZK, Calne DB, Rodnitzky RL, Pfeiffer RF. Magnetic resonance imaging studies in rapidly progressive autosomal dominant Parkinsonism and dementia with Pallido-Ponto-Nigral degeneration. Neurodegeneration. 1992; 1:217-24.
     
653. Wszolek ZK, Herkes GK, Lagerlund TD, Kokmen E. Comparison of EEG background frequency analysis, psychologic test scores, short test of mental status, and quantitative SPECT in dementia. J Geriatr Psychiatry Neurol. 1992 Jan-Mar; 5 (1):22-30
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655. Steg RE, Lefkowitz DM, Wszolek Z, Jordan AA Jr. Optic nerve enlargement in acute optic neuritis. Nebr Med J. 1990 Oct; 75(10):284-7.
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656. Wszolek ZK, McComb RD, Pfeiffer RF, Steg RE, Wood RP, Shaw BW Jr, Markin RS. Pontine and extrapontine myelinolysis following liver transplantation. Relationship to serum sodium. Transplantation. 1989 Dec; 48(6):1006-12.
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657. Gasecki AP, Mawk JR, Hahn FJ, Wszolek ZK, McComb RD, Bennett DR. Neurocysticercosis: a case report. Nebr Med J. 1989 Sep; 74(9):275-9.
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658. Steg RE, Lefkowitz DM, Wszolek Z, Sison AS Jr, Hahn F. Clinical diagnostic imaging. Cerebral venous thrombosis. Nebr Med J. 1989 Feb; 74(2):37-41.
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659. Sullivan JM, Wszolek ZK, Lund G, Pfeiffer RF. Magnetic resonance imaging in thoracic outlet syndrome. Nebr Med J. 1988 Mar; 73(3):70-2.
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660. Wszolek Z, Monsour H, Smith P, Pfeiffer R. Cryptococcal meningoencephalitis with parkinsonian features. Mov Disord. 1988; 3(3):271-3.
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661. Wszolek ZK, Schima EJ, Phalen JJ. Arteriovenous malformation of the brain. Nebr Med J. 1987 Dec; 72(12):404-5.
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666. Glowacki B, Wszolek Z. [Case of hemiplegic migraine with atypical angiographic findings]. [Polish]. Neurol Neurochir Pol. 1978 Jul-Aug; 12(4):795-6.
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