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Items: 1 to 50 of 469

1.

Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers.

Chen Q, Boeve BF, Tosakulwong N, Lesnick T, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Haley D, Gunter JL, Graff-Radford J, Jones D, Knopman D, Graff-Radford N, Kraft R, Lapid M, Rademakers R, Wszolek ZK, Rosen H, Boxer AL, Kantarci K.

J Neuroimaging. 2019 Jun 7. doi: 10.1111/jon.12642. [Epub ahead of print]

PMID:
31173437
2.

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.

van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illán-Gala I, Wei W, Jeune B, Orellana A, Then Bergh F, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodríguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodríguez Rodríguez E; DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank); EADB (Alzheimer Disease European DNA biobank); IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium); IPDGC (The International Parkinson Disease Genomics Consortium); RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia); Netherlands Brain Bank (NBB), Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tárraga L, Maier W, Dols-Icardo O, Kawalia A, Dalmasso MC, Boada M, Zettl UK, van Schoor NM, Beekman M, Allen M, Masliah E, de Munain AL, Pantelyat A, Wszolek ZK, Ross OA, Dickson DW, Graff-Radford NR, Knopman D, Rademakers R, Lemstra AW, Pijnenburg YAL, Scheltens P, Gasser T, Chinnery PF, Hemmer B, Huisman MA, Troncoso J, Moreno F, Nohr EA, Sørensen TIA, Heutink P, Sánchez-Juan P, Posthuma D; GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, Clarimón J, Christensen K, Ertekin-Taner N, Scholz SW, Ramirez A, Ruiz A, Slagboom E, van der Flier WM, Holstege H.

Acta Neuropathol. 2019 May 27. doi: 10.1007/s00401-019-02026-8. [Epub ahead of print]

PMID:
31131421
3.

A proteomic signature for dementia with Lewy bodies.

O'Bryant SE, Ferman TJ, Zhang F, Hall J, Pedraza O, Wszolek ZK, Como T, Julovich D, Mattevada S, Johnson LA, Edwards M, Hall J, Graff-Radford NR.

Alzheimers Dement (Amst). 2019 Mar 15;11:270-276. doi: 10.1016/j.dadm.2019.01.006. eCollection 2019 Dec.

4.

Association of MAPT Subhaplotypes With Risk of Progressive Supranuclear Palsy and Severity of Tau Pathology.

Heckman MG, Brennan RR, Labbé C, Soto AI, Koga S, DeTure MA, Murray ME, Petersen RC, Boeve BF, van Gerpen JA, Uitti RJ, Wszolek ZK, Rademakers R, Dickson DW, Ross OA.

JAMA Neurol. 2019 Mar 18. doi: 10.1001/jamaneurol.2019.0250. [Epub ahead of print]

PMID:
30882841
5.

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.

Pottier C, Ren Y, Perkerson RB 3rd, Baker M, Jenkins GD, van Blitterswijk M, DeJesus-Hernandez M, van Rooij JGJ, Murray ME, Christopher E, McDonnell SK, Fogarty Z, Batzler A, Tian S, Vicente CT, Matchett B, Karydas AM, Hsiung GR, Seelaar H, Mol MO, Finger EC, Graff C, Öijerstedt L, Neumann M, Heutink P, Synofzik M, Wilke C, Prudlo J, Rizzu P, Simon-Sanchez J, Edbauer D, Roeber S, Diehl-Schmid J, Evers BM, King A, Mesulam MM, Weintraub S, Geula C, Bieniek KF, Petrucelli L, Ahern GL, Reiman EM, Woodruff BK, Caselli RJ, Huey ED, Farlow MR, Grafman J, Mead S, Grinberg LT, Spina S, Grossman M, Irwin DJ, Lee EB, Suh E, Snowden J, Mann D, Ertekin-Taner N, Uitti RJ, Wszolek ZK, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Hodges JR, Piguet O, Geier EG, Yokoyama JS, Rissman RA, Rogaeva E, Keith J, Zinman L, Tartaglia MC, Cairns NJ, Cruchaga C, Ghetti B, Kofler J, Lopez OL, Beach TG, Arzberger T, Herms J, Honig LS, Vonsattel JP, Halliday GM, Kwok JB, White CL 3rd, Gearing M, Glass J, Rollinson S, Pickering-Brown S, Rohrer JD, Trojanowski JQ, Van Deerlin V, Bigio EH, Troakes C, Al-Sarraj S, Asmann Y, Miller BL, Graff-Radford NR, Boeve BF, Seeley WW, Mackenzie IRA, van Swieten JC, Dickson DW, Biernacka JM, Rademakers R.

Acta Neuropathol. 2019 Jun;137(6):879-899. doi: 10.1007/s00401-019-01962-9. Epub 2019 Feb 9.

PMID:
30739198
6.

DYT-GNAL.

Deutschländer AB, Wszolek ZK.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2019 Jan 3.

7.

Editorial Announcement - The Change of Publisher of the Polish Journal of Neurology and Neurosurgery (Neurologia i Neurochirurgia Polska).

Wszolek ZK, Sławek J, Siemiński M.

Neurol Neurochir Pol. 2018 Nov - Dec;52(6):637. doi: 10.1016/j.pjnns.2018.11.001. No abstract available.

PMID:
30553409
8.

Parkinson-Associated SNCA Enhancer Variants Revealed by Open Chromatin in Mouse Dopamine Neurons.

McClymont SA, Hook PW, Soto AI, Reed X, Law WD, Kerans SJ, Waite EL, Briceno NJ, Thole JF, Heckman MG, Diehl NN, Wszolek ZK, Moore CD, Zhu H, Akiyama JA, Dickel DE, Visel A, Pennacchio LA, Ross OA, Beer MA, McCallion AS.

Am J Hum Genet. 2018 Dec 6;103(6):874-892. doi: 10.1016/j.ajhg.2018.10.018. Epub 2018 Nov 29.

9.

CSF1R-related leukoencephalopathy: A major player in primary microgliopathies.

Konno T, Kasanuki K, Ikeuchi T, Dickson DW, Wszolek ZK.

Neurology. 2018 Dec 11;91(24):1092-1104. doi: 10.1212/WNL.0000000000006642. Epub 2018 Nov 14. Review.

PMID:
30429277
10.

Tau Mutations as a Novel Risk Factor for Cancer-Letter.

Deutschländer AB, Boeve BF, Rosen HJ, Boxer AL, Wszolek ZK; LEFFTDS Consortium.

Cancer Res. 2018 Nov 15;78(22):6523-6524. doi: 10.1158/0008-5472.CAN-18-2313. Epub 2018 Oct 29. No abstract available.

PMID:
30373809
11.

APOE ε2 is associated with increased tau pathology in primary tauopathy.

Zhao N, Liu CC, Van Ingelgom AJ, Linares C, Kurti A, Knight JA, Heckman MG, Diehl NN, Shinohara M, Martens YA, Attrebi ON, Petrucelli L, Fryer JD, Wszolek ZK, Graff-Radford NR, Caselli RJ, Sanchez-Contreras MY, Rademakers R, Murray ME, Koga S, Dickson DW, Ross OA, Bu G.

Nat Commun. 2018 Oct 22;9(1):4388. doi: 10.1038/s41467-018-06783-0.

12.

No evidence for DNM3 as genetic modifier of age at onset in idiopathic Parkinson's disease.

Berge-Seidl V, Pihlstrøm L, Wszolek ZK, Ross OA, Toft M.

Neurobiol Aging. 2019 Feb;74:236.e1-236.e5. doi: 10.1016/j.neurobiolaging.2018.09.022. Epub 2018 Sep 22.

PMID:
30340792
13.

ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans.

Conway OJ, Carrasquillo MM, Wang X, Bredenberg JM, Reddy JS, Strickland SL, Younkin CS, Burgess JD, Allen M, Lincoln SJ, Nguyen T, Malphrus KG, Soto AI, Walton RL, Boeve BF, Petersen RC, Lucas JA, Ferman TJ, Cheshire WP, van Gerpen JA, Uitti RJ, Wszolek ZK, Ross OA, Dickson DW, Graff-Radford NR, Ertekin-Taner N.

Mol Neurodegener. 2018 Oct 11;13(1):53. doi: 10.1186/s13024-018-0289-x.

14.

TRIO gene segregation in a family with cerebellar ataxia.

Hanna Al Shaikh R, Caulfield T, Strongosky AJ, Matthew M, Jansen-West KR, Prudencio M, Fryer JD, Petrucelli L, Uitti RJ, Wszolek ZK.

Neurol Neurochir Pol. 2018 Nov - Dec;52(6):743-749. doi: 10.1016/j.pjnns.2018.09.006. Epub 2018 Sep 22.

PMID:
30279051
15.

APOE ε4 is associated with severity of Lewy body pathology independent of Alzheimer pathology.

Dickson DW, Heckman MG, Murray ME, Soto AI, Walton RL, Diehl NN, van Gerpen JA, Uitti RJ, Wszolek ZK, Ertekin-Taner N, Knopman DS, Petersen RC, Graff-Radford NR, Boeve BF, Bu G, Ferman TJ, Ross OA.

Neurology. 2018 Sep 18;91(12):e1182-e1195. doi: 10.1212/WNL.0000000000006212. Epub 2018 Aug 24.

PMID:
30143564
16.

Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

Miura T, Mezaki N, Konno T, Iwasaki A, Hara N, Miura M, Funayama M, Unai Y, Tashiro Y, Okita K, Kihara T, Ito N, Kanatsuka Y, Jones DT, Hara N, Ishiguro T, Tokutake T, Kasuga K, Nozaki H, Dickson DW, Onodera O, Wszolek ZK, Ikeuchi T.

J Neurol. 2018 Oct;265(10):2415-2424. doi: 10.1007/s00415-018-9017-2. Epub 2018 Aug 22.

17.

Association study between multiple system atrophy and TREM2 p.R47H.

Ogaki K, Heckman MG, Koga S, Martens YA, Labbé C, Lorenzo-Betancor O, Walton RL, Soto AI, Vargas ER, Fujioka S, Uitti RJ, van Gerpen JA, Cheshire WP, Younkin SG, Wszolek ZK, Low PA, Singer W, Bu G, Dickson DW, Ross OA.

Neurol Genet. 2018 Aug 1;4(4):e257. doi: 10.1212/NXG.0000000000000257. eCollection 2018 Aug.

18.

Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci.

Sanchez-Contreras MY, Kouri N, Cook CN, Serie DJ, Heckman MG, Finch NA, Caselli RJ, Uitti RJ, Wszolek ZK, Graff-Radford N, Petrucelli L, Wang LS, Schellenberg GD, Dickson DW, Rademakers R, Ross OA.

Mol Neurodegener. 2018 Jul 9;13(1):37. doi: 10.1186/s13024-018-0267-3.

19.

Age- and disease-dependent increase of the mitophagy marker phospho-ubiquitin in normal aging and Lewy body disease.

Hou X, Fiesel FC, Truban D, Castanedes Casey M, Lin WL, Soto AI, Tacik P, Rousseau LG, Diehl NN, Heckman MG, Lorenzo-Betancor O, Ferrer I, Arbelo JM, Steele JC, Farrer MJ, Cornejo-Olivas M, Torres L, Mata IF, Graff-Radford NR, Wszolek ZK, Ross OA, Murray ME, Dickson DW, Springer W.

Autophagy. 2018;14(8):1404-1418. doi: 10.1080/15548627.2018.1461294. Epub 2018 Jul 28.

20.

Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease.

Kasanuki K, Josephs KA, Ferman TJ, Murray ME, Koga S, Konno T, Sakae N, Parks A, Uitti RJ, Van Gerpen JA, Graff-Radford NR, Wszolek ZK, Dickson DW.

Neurology. 2018 Jul 17;91(3):e268-e279. doi: 10.1212/WNL.0000000000005828. Epub 2018 Jun 13. Erratum in: Neurology. 2018 Nov 20;91(21):986.

PMID:
29898972
21.

Whole-exome sequencing for variant discovery in blepharospasm.

Tian J, Vemula SR, Xiao J, Valente EM, Defazio G, Petrucci S, Gigante AF, Rudzińska-Bar M, Wszolek ZK, Kennelly KD, Uitti RJ, van Gerpen JA, Hedera P, Trimble EJ, LeDoux MS.

Mol Genet Genomic Med. 2018 May 16. doi: 10.1002/mgg3.411. [Epub ahead of print]

22.

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Pottier C, Zhou X, Perkerson RB 3rd, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sánchez-Valle R, Antonell A, Lladó A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimberti D, Graff C, Öijerstedt L, Troakes C, Al-Sarraj S, Cruchaga C, Cairns NJ, Rohrer JD, Halliday GM, Kwok JB, van Swieten JC, White CL 3rd, Ghetti B, Murell JR, Mackenzie IRA, Hsiung GR, Borroni B, Rossi G, Tagliavini F, Wszolek ZK, Petersen RC, Bigio EH, Grossman M, Van Deerlin VM, Seeley WW, Miller BL, Graff-Radford NR, Boeve BF, Dickson DW, Biernacka JM, Rademakers R.

Lancet Neurol. 2018 Jun;17(6):548-558. doi: 10.1016/S1474-4422(18)30126-1. Epub 2018 Apr 30.

23.

Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant.

Konno T, Blackburn PR, Rozen TD, van Gerpen JA, Ross OA, Atwal PS, Wszolek ZK.

Neurol Neurochir Pol. 2018 May - Jun;52(3):386-389. doi: 10.1016/j.pjnns.2018.03.007. Epub 2018 Apr 11.

PMID:
29680161
24.

Partial loss of function of colony-stimulating factor 1 receptor in a patient with white matter abnormalities.

Konno T, Miura T, Harriott AM, Mezaki N, Edwards ES, Rademakers R, Ross OA, Meschia JF, Ikeuchi T, Wszolek ZK.

Eur J Neurol. 2018 Jun;25(6):875-881. doi: 10.1111/ene.13611. Epub 2018 Apr 3.

25.

PINK1 Phosphorylates MIC60/Mitofilin to Control Structural Plasticity of Mitochondrial Crista Junctions.

Tsai PI, Lin CH, Hsieh CH, Papakyrikos AM, Kim MJ, Napolioni V, Schoor C, Couthouis J, Wu RM, Wszolek ZK, Winter D, Greicius MD, Ross OA, Wang X.

Mol Cell. 2018 Mar 1;69(5):744-756.e6. doi: 10.1016/j.molcel.2018.01.026. Epub 2018 Feb 15.

26.

The effect of LRRK2 mutations on the cholinergic system in manifest and premanifest stages of Parkinson's disease: a cross-sectional PET study.

Liu SY, Wile DJ, Fu JF, Valerio J, Shahinfard E, McCormick S, Mabrouk R, Vafai N, McKenzie J, Neilson N, Perez-Soriano A, Arena JE, Cherkasova M, Chan P, Zhang J, Zabetian CP, Aasly JO, Wszolek ZK, McKeown MJ, Adam MJ, Ruth TJ, Schulzer M, Sossi V, Stoessl AJ.

Lancet Neurol. 2018 Apr;17(4):309-316. doi: 10.1016/S1474-4422(18)30032-2. Epub 2018 Feb 16.

27.

Multiple system atrophy and apolipoprotein E.

Ogaki K, Martens YA, Heckman MG, Koga S, Labbé C, Lorenzo-Betancor O, Wernick AI, Walton RL, Soto AI, Vargas ER, Nielsen HM, Fujioka S, Kanekiyo T, Uitti RJ, van Gerpen JA, Cheshire WP, Wszolek ZK, Low PA, Singer W, Dickson DW, Bu G, Ross OA.

Mov Disord. 2018 Apr;33(4):647-650. doi: 10.1002/mds.27297. Epub 2018 Feb 14.

28.

Daytime sleepiness in dementia with Lewy bodies is associated with neuronal depletion of the nucleus basalis of Meynert.

Kasanuki K, Ferman TJ, Murray ME, Heckman MG, Pedraza O, Hanna Al-Shaikh FS, Mishima T, Diehl NN, van Gerpen JA, Uitti RJ, Wszolek ZK, Graff-Radford NR, Dickson DW.

Parkinsonism Relat Disord. 2018 May;50:99-103. doi: 10.1016/j.parkreldis.2018.02.003. Epub 2018 Feb 3.

PMID:
29429645
29.

Comparison of clinical features among Parkinson's disease subtypes: A large retrospective study in a single center.

Konno T, Deutschländer A, Heckman MG, Ossi M, Vargas ER, Strongosky AJ, van Gerpen JA, Uitti RJ, Ross OA, Wszolek ZK.

J Neurol Sci. 2018 Mar 15;386:39-45. doi: 10.1016/j.jns.2018.01.013. Epub 2018 Jan 11.

PMID:
29406964
30.

Diaphragmatic Pacemaker for Perry Syndrome.

Konno T, Wszolek ZK.

Mayo Clin Proc. 2018 Feb;93(2):263. doi: 10.1016/j.mayocp.2017.11.014. No abstract available.

PMID:
29406204
31.

Letter to the Readership of the Polish Journal of Neurology and Neurosurgery.

Wszolek ZK, Slawek J.

Neurol Neurochir Pol. 2018 Mar;52(2):123. doi: 10.1016/j.pjnns.2018.01.002. Epub 2018 Feb 1. No abstract available.

PMID:
29395117
32.

Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review.

Ygland E, van Westen D, Englund E, Rademakers R, Wszolek ZK, Nilsson K, Nilsson C, Landqvist Waldö M, Alafuzoff I, Hansson O, Gustafson L, Puschmann A.

Alzheimers Res Ther. 2018 Jan 9;10(1):2. doi: 10.1186/s13195-017-0330-2.

33.

So long, and thanks for all the fish.

Wszolek ZK, Pfeiffer RF.

Parkinsonism Relat Disord. 2018 Jan;46:1. doi: 10.1016/j.parkreldis.2017.12.027. No abstract available.

PMID:
29295733
34.

Restless legs syndrome and nocturnal leg cramps: a review and guide to diagnosis and treatment.

Tipton PW, Wszołek ZK.

Pol Arch Intern Med. 2017 Dec 22;127(12):865-872. doi: 10.20452/pamw.4148. Epub 2017 Nov 9. Review.

35.

The limbic and neocortical contribution of α-synuclein, tau, and amyloid β to disease duration in dementia with Lewy bodies.

Ferman TJ, Aoki N, Crook JE, Murray ME, Graff-Radford NR, van Gerpen JA, Uitti RJ, Wszolek ZK, Graff-Radford J, Pedraza O, Kantarci K, Boeve BF, Dickson DW.

Alzheimers Dement. 2018 Mar;14(3):330-339. doi: 10.1016/j.jalz.2017.09.014. Epub 2017 Oct 31.

36.

Establishing diagnostic criteria for Perry syndrome.

Mishima T, Fujioka S, Tomiyama H, Yabe I, Kurisaki R, Fujii N, Neshige R, Ross OA, Farrer MJ, Dickson DW, Wszolek ZK, Hattori N, Tsuboi Y.

J Neurol Neurosurg Psychiatry. 2018 May;89(5):482-487. doi: 10.1136/jnnp-2017-316864. Epub 2017 Oct 31.

37.

Cognitive impairment in progressive supranuclear palsy is associated with tau burden.

Koga S, Parks A, Kasanuki K, Sanchez-Contreras M, Baker MC, Josephs KA, Ahlskog JE, Uitti RJ, Graff-Radford N, van Gerpen JA, Wszolek ZK, Rademakers R, Dickson DW.

Mov Disord. 2017 Dec;32(12):1772-1779. doi: 10.1002/mds.27198. Epub 2017 Oct 30.

38.

Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients.

Valdez C, Wong YC, Schwake M, Bu G, Wszolek ZK, Krainc D.

Hum Mol Genet. 2017 Dec 15;26(24):4861-4872. doi: 10.1093/hmg/ddx364.

39.

CSF1R-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.

Sundal C, Wszolek ZK.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2012 Aug 30 [updated 2017 Oct 5].

40.

Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation.

Konno T, Yoshida K, Mizuta I, Mizuno T, Kawarai T, Tada M, Nozaki H, Ikeda SI, Onodera O, Wszolek ZK, Ikeuchi T.

Eur J Neurol. 2018 Jan;25(1):142-147. doi: 10.1111/ene.13464. Epub 2017 Oct 19.

41.

DCTN1 variation in pathologically-confirmed PSP and CBD tauopathy.

Sanchez-Contreras M, Soto AI, Walton RL, Wszolek ZK, Dickson DW, Ross OA, Rademakers R.

Parkinsonism Relat Disord. 2017 Nov;44:151-153. doi: 10.1016/j.parkreldis.2017.08.027. Epub 2017 Aug 30. No abstract available.

PMID:
28867162
42.

Brain calcification in a CSF1R mutation carrier precedes white matter degeneration.

Konno T, Broderick DF, Wszolek ZK.

Mov Disord. 2017 Oct;32(10):1493-1495. doi: 10.1002/mds.27130. Epub 2017 Aug 26. No abstract available.

PMID:
28843019
43.

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics.

Mackenzie IR, Nicholson AM, Sarkar M, Messing J, Purice MD, Pottier C, Annu K, Baker M, Perkerson RB, Kurti A, Matchett BJ, Mittag T, Temirov J, Hsiung GR, Krieger C, Murray ME, Kato M, Fryer JD, Petrucelli L, Zinman L, Weintraub S, Mesulam M, Keith J, Zivkovic SA, Hirsch-Reinshagen V, Roos RP, Züchner S, Graff-Radford NR, Petersen RC, Caselli RJ, Wszolek ZK, Finger E, Lippa C, Lacomis D, Stewart H, Dickson DW, Kim HJ, Rogaeva E, Bigio E, Boylan KB, Taylor JP, Rademakers R.

Neuron. 2017 Aug 16;95(4):808-816.e9. doi: 10.1016/j.neuron.2017.07.025.

44.

Atypical parkinsonian syndromes: a general neurologist's perspective.

Deutschländer AB, Ross OA, Dickson DW, Wszolek ZK.

Eur J Neurol. 2018 Jan;25(1):41-58. doi: 10.1111/ene.13412. Epub 2017 Sep 28. Review.

PMID:
28803444
45.

VPS35-Related Parkinson Disease.

Deutschländer A, Ross OA, Wszolek ZK.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2017 Aug 10.

46.

Perry Syndrome: A Distinctive Type of TDP-43 Proteinopathy.

Mishima T, Koga S, Lin WL, Kasanuki K, Castanedes-Casey M, Wszolek ZK, Oh SJ, Tsuboi Y, Dickson DW.

J Neuropathol Exp Neurol. 2017 Aug 1;76(8):676-682. doi: 10.1093/jnen/nlx049.

47.

Reduced orexin immunoreactivity in Perry syndrome and multiple system atrophy.

Mishima T, Kasanuki K, Koga S, Castanedes-Casey M, Wszolek ZK, Tsuboi Y, Dickson DW.

Parkinsonism Relat Disord. 2017 Sep;42:85-89. doi: 10.1016/j.parkreldis.2017.06.003. Epub 2017 Jun 12.

PMID:
28651750
48.

DCTN1-related neurodegeneration: Perry syndrome and beyond.

Konno T, Ross OA, Teive HAG, Sławek J, Dickson DW, Wszolek ZK.

Parkinsonism Relat Disord. 2017 Aug;41:14-24. doi: 10.1016/j.parkreldis.2017.06.004. Epub 2017 Jun 12. Review.

49.

APOE ε4/ε4 diminishes neurotrophic function of human iPSC-derived astrocytes.

Zhao J, Davis MD, Martens YA, Shinohara M, Graff-Radford NR, Younkin SG, Wszolek ZK, Kanekiyo T, Bu G.

Hum Mol Genet. 2017 Jul 15;26(14):2690-2700. doi: 10.1093/hmg/ddx155.

50.

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