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Results: 1 to 20 of 30

1.

A novel tau mutation, p.K317N, causes globular glial tauopathy.

Tacik P, DeTure M, Lin WL, Sanchez Contreras M, Wojtas A, Hinkle KM, Fujioka S, Baker MC, Walton RL, Carlomagno Y, Brown PH, Strongosky AJ, Kouri N, Murray ME, Petrucelli L, Josephs KA, Rademakers R, Ross OA, Wszolek ZK, Dickson DW.

Acta Neuropathol. 2015 Apr 22. [Epub ahead of print]

PMID:
25900293
2.

Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.

Tacik P, Guthrie KJ, Strongosky AJ, Broderick DF, Riegert-Johnson DL, Tang S, El-Khechen D, Parker AS, Ross OA, Wszolek ZK.

Mayo Clin Proc. 2015 Mar;90(3):366-71. doi: 10.1016/j.mayocp.2015.01.001. Epub 2015 Feb 3.

PMID:
25659636
3.

Clinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia.

Fujioka S, Strongosky AJ, Hassan A, Rademakers R, Dickson DW, Wszolek ZK.

Parkinsonism Relat Disord. 2015 Mar;21(3):329-31. doi: 10.1016/j.parkreldis.2014.12.024. Epub 2015 Jan 8. No abstract available.

PMID:
25609077
4.

Three sib-pairs of autopsy-confirmed progressive supranuclear palsy.

Fujioka S, Sanchez Contreras MY, Strongosky AJ, Ogaki K, Whaley NR, Tacik PM, van Gerpen JA, Uitti RJ, Ross OA, Wszolek ZK, Rademakers R, Dickson DW.

Parkinsonism Relat Disord. 2015 Feb;21(2):101-5. doi: 10.1016/j.parkreldis.2014.10.028. Epub 2014 Nov 15.

PMID:
25443551
5.

Analysis of nuclear export sequence regions of FUS-Related RNA-binding proteins in essential tremor.

Lorenzo-Betancor O, Ogaki K, Soto-Ortolaza A, Labbé C, Vilariño-Güell C, Rajput A, Rajput AH, Pastor P, Ortega S, Lorenzo E, Strongosky AJ, van Gerpen JA, Uitti RJ, Wszolek ZK, Ross OA.

PLoS One. 2014 Nov 6;9(11):e111989. doi: 10.1371/journal.pone.0111989. eCollection 2014.

6.

A familial form of parkinsonism, dementia, and motor neuron disease: a longitudinal study.

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.

Parkinsonism Relat Disord. 2014 Nov;20(11):1129-34. doi: 10.1016/j.parkreldis.2014.07.014. Epub 2014 Aug 19.

PMID:
25175602
7.

Three families with Perry syndrome from distinct parts of the world.

Tacik P, Fiesel FC, Fujioka S, Ross OA, Pretelt F, Castañeda Cardona C, Kidd A, Hlavac M, Raizis A, Okun MS, Traynor S, Strongosky AJ, Springer W, Wszolek ZK.

Parkinsonism Relat Disord. 2014 Aug;20(8):884-8. doi: 10.1016/j.parkreldis.2014.05.004. Epub 2014 May 13.

PMID:
24881494
8.

GWAS risk factors in Parkinson's disease: LRRK2 coding variation and genetic interaction with PARK16.

Soto-Ortolaza AI, Heckman MG, Labbé 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.

Am J Neurodegener Dis. 2013 Nov 29;2(4):287-99. eCollection 2013.

9.

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia.

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.

Neurogenetics. 2014 Mar;15(1):23-30. doi: 10.1007/s10048-013-0378-5. Epub 2013 Oct 18.

10.

Phase II safety, tolerability, and dose selection study of isradipine as a potential disease-modifying intervention in early Parkinson's disease (STEADY-PD).

Parkinson Study Group.

Mov Disord. 2013 Nov;28(13):1823-31. doi: 10.1002/mds.25639. Epub 2013 Sep 30.

PMID:
24123224
11.

Similarities between familial and sporadic autopsy-proven progressive supranuclear palsy.

Fujioka S, Algom AA, Murray ME, Strongosky A, Soto-Ortolaza AI, Rademakers R, Ross OA, Wszolek ZK, Dickson DW.

Neurology. 2013 May 28;80(22):2076-8. doi: 10.1212/WNL.0b013e318294b2eb. Epub 2013 May 1.

12.

Investigating the role of FUS exonic variants in essential tremor.

Labbé C, Soto-Ortolaza AI, Rayaprolu S, Harriott AM, Strongosky AJ, Uitti RJ, Van Gerpen JA, Wszolek ZK, Ross OA.

Parkinsonism Relat Disord. 2013 Aug;19(8):755-7. doi: 10.1016/j.parkreldis.2013.03.005. Epub 2013 Apr 16.

13.

Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia.

Fujioka S, Sundal C, Strongosky AJ, Castanedes MC, Rademakers R, Ross OA, Vilariño-Güell C, Farrer MJ, Wszolek ZK, Dickson DW.

Acta Neuropathol. 2013 Mar;125(3):425-38. doi: 10.1007/s00401-012-1059-4. Epub 2012 Nov 4.

14.

Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome.

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.

Parkinsonism Relat Disord. 2013 Feb;19(2):198-201. doi: 10.1016/j.parkreldis.2012.09.013. Epub 2012 Oct 18.

15.

Anatomy of disturbed sleep in pallido-ponto-nigral degeneration.

Spector AR, Dugger BN, Wszolek ZK, Uitti RJ, Fredrickson P, Kaplan J, Boeve BF, Dickson DW, Strongosky A, Lin SC.

Ann Neurol. 2011 Jun;69(6):1014-25. doi: 10.1002/ana.22340.

16.

A family with Parkinsonism, essential tremor, restless legs syndrome, and depression.

Puschmann A, Pfeiffer RF, Stoessl AJ, Kuriakose R, Lash JL, Searcy JA, Strongosky AJ, Vilariño-Güell C, Farrer MJ, Ross OA, Dickson DW, Wszolek ZK.

Neurology. 2011 May 10;76(19):1623-30. doi: 10.1212/WNL.0b013e318219fb42.

17.

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease.

Elbaz A, Ross OA, Ioannidis JP, Soto-Ortolaza AI, Moisan F, Aasly J, Annesi G, Bozi M, Brighina L, Chartier-Harlin MC, Destée A, Ferrarese C, Ferraris A, Gibson JM, Gispert S, Hadjigeorgiou GM, Jasinska-Myga B, Klein C, Krüger R, Lambert JC, Lohmann K, van de Loo S, Loriot MA, Lynch T, Mellick GD, Mutez E, Nilsson C, Opala G, Puschmann A, Quattrone A, Sharma M, Silburn PA, Stefanis L, Uitti RJ, Valente EM, Vilariño-Güell C, Wirdefeldt K, Wszolek ZK, Xiromerisiou G, Maraganore DM, Farrer MJ; Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.

Ann Neurol. 2011 May;69(5):778-92. doi: 10.1002/ana.22321. Epub 2011 Mar 9.

18.

In vivo detection of neuropathologic changes in presymptomatic MAPT mutation carriers: a PET and MRI study.

Miyoshi M, Shinotoh H, Wszolek ZK, Strongosky AJ, Shimada H, Arakawa R, Higuchi M, Ikoma Y, Yasuno F, Fukushi K, Irie T, Ito H, Suhara T.

Parkinsonism Relat Disord. 2010 Jul;16(6):404-8. doi: 10.1016/j.parkreldis.2010.04.004. Epub 2010 May 10.

PMID:
20452812
19.

Brainstem atrophy on routine MR study in pallidopontonigral degeneration.

Slowinski JL, Schweitzer KJ, Imamura A, Uitti RJ, Strongosky AJ, Dickson DW, Broderick DF, Wszolek ZK.

J Neurol. 2009 May;256(5):827-9. doi: 10.1007/s00415-009-5013-x. Epub 2009 Mar 1. No abstract available.

PMID:
19252809
20.

Progression of dopaminergic dysfunction in a LRRK2 kindred: a multitracer PET study.

Nandhagopal R, Mak E, Schulzer M, McKenzie J, McCormick S, Sossi V, Ruth TJ, Strongosky A, Farrer MJ, Wszolek ZK, Stoessl AJ.

Neurology. 2008 Nov 25;71(22):1790-5. doi: 10.1212/01.wnl.0000335973.66333.58.

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