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Items: 1 to 20 of 501

1.

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]

2.

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.

PMID:
29724592
3.

Reviewer acknowledgment 2017.

Wszołek ZK, Sławek J, Sieminski M.

Neurol Neurochir Pol. 2018 Apr 13. pii: S0028-3843(18)30159-2. doi: 10.1016/j.pjnns.2018.04.001. [Epub ahead of print] No abstract available.

PMID:
29685629
4.

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 Apr 11. pii: S0028-3843(18)30093-8. doi: 10.1016/j.pjnns.2018.03.007. [Epub ahead of print]

PMID:
29680161
5.

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.

PMID:
29509319
6.

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.

PMID:
29456190
7.

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.

PMID:
29456161
8.

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.

PMID:
29442376
9.

In vivo 18F-AV-1451 tau PET signal in MAPT mutation carriers varies by expected tau isoforms.

Jones DT, Knopman DS, Graff-Radford J, Syrjanen JA, Senjem ML, Schwarz CG, Dheel C, Wszolek Z, Rademakers R, Kantarci K, Petersen RC, Jack CR Jr, Lowe VJ, Boeve BF.

Neurology. 2018 Mar 13;90(11):e947-e954. doi: 10.1212/WNL.0000000000005117. Epub 2018 Feb 9.

PMID:
29440563
10.

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
11.

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
12.

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
13.

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
14.

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.

15.

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
16.

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.

17.

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.

PMID:
29100980
18.

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.

19.

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.

PMID:
29082658
20.

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.

PMID:
29036611

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