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Items: 1 to 50 of 87

1.

Reader response: Video NeuroImages: Paraneoplastic spinal myoclonus associated with Caspr2 antibodies.

Tipton PW, van Gerpen JA, Chen R.

Neurology. 2019 Feb 5;92(6):304. doi: 10.1212/WNL.0000000000006872. No abstract available.

PMID:
30718328
2.

Reader response: Video NeuroImages: Paraneoplastic spinal myoclonus associated with Caspr2 antibodies.

Tipton PW, van Gerpen JA, Chen R.

Neurology. 2019 Feb 5;92(6):302-303. doi: 10.1212/WNL.0000000000006870. No abstract available.

PMID:
30718326
3.

Reader response: The laser shoes: A new ambulatory device to alleviate freezing of gait in Parkinson disease.

van Gerpen JA, Tipton PW, Uitti RJ.

Neurology. 2018 Oct 23;91(17):810-811. doi: 10.1212/WNL.0000000000006377. No abstract available.

PMID:
30348858
4.

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.

5.

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
6.

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.

7.

Corticobasal degeneration with TDP-43 pathology presenting with progressive supranuclear palsy syndrome: a distinct clinicopathologic subtype.

Koga S, Kouri N, Walton RL, Ebbert MTW, Josephs KA, Litvan I, Graff-Radford N, Ahlskog JE, Uitti RJ, van Gerpen JA, Boeve BF, Parks A, Ross OA, Dickson DW.

Acta Neuropathol. 2018 Jun 20. doi: 10.1007/s00401-018-1878-z. [Epub ahead of print]

PMID:
29926172
8.

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
9.

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]

10.

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
11.

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
12.

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
13.

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
14.

Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia.

DeMeo NN, Burgess JD, Blackburn PR, Gass JM, Richter J, Atwal HK, van Gerpen JA, Atwal PS.

Clin Case Rep. 2017 Nov 20;6(1):8-13. doi: 10.1002/ccr3.1265. eCollection 2018 Jan.

15.

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
16.

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.

17.

Comment on "Orthostatic myoclonus after brain tumor radiation: Insights from two lesional cases".

van Gerpen JA, Hassan A.

Parkinsonism Relat Disord. 2017 Nov;44:157. doi: 10.1016/j.parkreldis.2017.08.025. Epub 2017 Sep 2. No abstract available.

PMID:
28874310
18.

Different orthostatic hyperkinesias go "Thump".

McKay JH, van Gerpen JA.

Clin Neurophysiol Pract. 2017 Jul 10;2:144-146. doi: 10.1016/j.cnp.2017.06.005. eCollection 2017. No abstract available.

19.

Occurrence of Crohn's disease with Parkinson's disease.

Fujioka S, Curry SE, Kennelly KD, Tacik P, Heckman MG, Tsuboi Y, Strongosky AJ, van Gerpen JA, Uitti RJ, Ross OA, Ikezu T, Wszolek ZK.

Parkinsonism Relat Disord. 2017 Apr;37:116-117. doi: 10.1016/j.parkreldis.2017.01.013. Epub 2017 Feb 10.

PMID:
28215729
20.

Orthostatic Tremor and Orthostatic Myoclonus: Weight-bearing Hyperkinetic Disorders: A Systematic Review, New Insights, and Unresolved Questions.

Hassan A, van Gerpen JA.

Tremor Other Hyperkinet Mov (N Y). 2016 Nov 18;6:417. doi: 10.7916/D84X584K. eCollection 2016. Review.

21.

Distribution and characteristics of transactive response DNA binding protein 43 kDa pathology in progressive supranuclear palsy.

Koga S, Sanchez-Contreras M, Josephs KA, Uitti RJ, Graff-Radford N, van Gerpen JA, Cheshire WP, Wszolek ZK, Rademakers R, Dickson DW.

Mov Disord. 2017 Feb;32(2):246-255. doi: 10.1002/mds.26809. Epub 2016 Dec 23.

22.

Personality Changes, Executive Dysfunction, and Motor and Memory Impairment.

López Chiriboga AS, Konno T, van Gerpen JA.

JAMA Neurol. 2017 Feb 1;74(2):245-246. doi: 10.1001/jamaneurol.2016.2782. No abstract available.

PMID:
27992633
23.

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.

Blackburn PR, Zimmermann MT, Gass JM, Harris KG, Cousin MA, Boczek NJ, Ross OA, Klee EW, Brazis PW, Van Gerpen JA, Atwal PS.

BMC Med Genet. 2016 Dec 5;17(1):93.

24.

Profile of cognitive impairment and underlying pathology in multiple system atrophy.

Koga S, Parks A, Uitti RJ, van Gerpen JA, Cheshire WP, Wszolek ZK, Dickson DW.

Mov Disord. 2017 Mar;32(3):405-413. doi: 10.1002/mds.26874. Epub 2016 Nov 15.

25.

Orthostatic myoclonus associated with Caspr2 antibodies.

van Gerpen JA, Ahlskog JE, Chen R, Fung VS, Hallett M, Gövert F, Deuschl G, Leypoldt F.

Neurology. 2016 Sep 13;87(11):1187-8. doi: 10.1212/WNL.0000000000003140. No abstract available.

PMID:
27621382
26.

RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies.

Hodges K, Brewer SS, Labbé C, Soto-Ortolaza AI, Walton RL, Strongosky AJ, Uitti RJ, van Gerpen JA, Ertekin-Taner N, Kantarci K, Lowe VJ, Parisi JE, Savica R, Graff-Radford J, Jones DT, Knopman DS, Petersen RC, Murray ME, Graff-Radford NR, Ferman TJ, Dickson DW, Wszolek ZK, Boeve BF, Ross OA, Lorenzo-Betancor O.

Neurobiol Aging. 2016 Sep;45:107-108. doi: 10.1016/j.neurobiolaging.2016.03.021. Epub 2016 Mar 24.

27.

TREM2 p.R47H substitution is not associated with dementia with Lewy bodies.

Walton RL, Soto-Ortolaza AI, Murray ME, Lorenzo-Betancor O, Ogaki K, Heckman MG, Rayaprolu S, Rademakers R, Ertekin-Taner N, Uitti RJ, van Gerpen JA, Wszolek ZK, Smith GE, Kantarci K, Lowe VJ, Parisi JE, Jones DT, Savica R, Graff-Radford J, Knopman DS, Petersen RC, Graff-Radford NR, Ferman TJ, Dickson DW, Boeve BF, Ross OA, Labbé C.

Neurol Genet. 2016 Jul 14;2(4):e85. doi: 10.1212/NXG.0000000000000085. eCollection 2016 Aug.

28.

MAPT haplotype diversity in multiple system atrophy.

Labbé C, Heckman MG, Lorenzo-Betancor O, Murray ME, Ogaki K, Soto-Ortolaza AI, Walton RL, Fujioka S, Koga S, Uitti RJ, van Gerpen JA, Petersen RC, Graff-Radford NR, Younkin SG, Boeve BF, Cheshire WP Jr, Low PA, Sandroni P, Coon EA, Singer W, Wszolek ZK, Dickson DW, Ross OA.

Parkinsonism Relat Disord. 2016 Sep;30:40-5. doi: 10.1016/j.parkreldis.2016.06.010. Epub 2016 Jun 16.

29.

Cancer in Parkinson's disease.

Tacik P, Curry S, Fujioka S, Strongosky A, Uitti RJ, van Gerpen JA, Diehl NN, Heckman MG, Wszolek ZK.

Parkinsonism Relat Disord. 2016 Oct;31:28-33. doi: 10.1016/j.parkreldis.2016.06.014. Epub 2016 Jun 20.

30.

Teaching Video NeuroImages: Palatal tremor in adult-onset Alexander disease.

Sebesto JR, van Gerpen JA.

Neurology. 2016 Jun 14;86(24):e252. doi: 10.1212/WNL.0000000000002763. No abstract available.

31.

Tremor in progressive supranuclear palsy.

Fujioka S, Algom AA, Murray ME, Sanchez-Contreras MY, Tacik P, Tsuboi Y, Van Gerpen JA, Uitti RJ, Rademakers R, Ross OA, Wszolek ZK, Dickson DW.

Parkinsonism Relat Disord. 2016 Jun;27:93-7. doi: 10.1016/j.parkreldis.2016.03.015. Epub 2016 Mar 22.

32.

Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP-C.

Koga S, Josephs KA, Ogaki K, Labbé C, Uitti RJ, Graff-Radford N, van Gerpen JA, Cheshire WP, Aoki N, Rademakers R, Wszolek ZK, Ross OA, Dickson DW.

Mov Disord. 2016 May;31(5):653-62. doi: 10.1002/mds.26499. Epub 2016 Feb 3.

33.

Association of Parkinson disease age of onset with DRD2, DRD3 and GRIN2B polymorphisms.

Hassan A, Heckman MG, Ahlskog JE, Wszolek ZK, Serie DJ, Uitti RJ, van Gerpen JA, Okun MS, Rayaprolu S, Ross OA.

Parkinsonism Relat Disord. 2016 Jan;22:102-5. doi: 10.1016/j.parkreldis.2015.11.016. Epub 2015 Nov 25.

34.

DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.

Lorenzo-Betancor O, Ogaki K, Soto-Ortolaza AI, Labbe C, Walton RL, Strongosky AJ, van Gerpen JA, Uitti RJ, McLean PJ, Springer W, Siuda J, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, McCarthy A, Lynch T, Puschmann A, Rektorova I, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Ferman TJ, Boeve BF, Petersen RC, Parisi JE, Graff-Radford NR, Dickson DW, Wszolek ZK, Ross OA.

Eur J Neurol. 2015 Sep;22(9):1323-5. doi: 10.1111/ene.12770.

35.

When DLB, PD, and PSP masquerade as MSA: an autopsy study of 134 patients.

Koga S, Aoki N, Uitti RJ, van Gerpen JA, Cheshire WP, Josephs KA, Wszolek ZK, Langston JW, Dickson DW.

Neurology. 2015 Aug 4;85(5):404-12. doi: 10.1212/WNL.0000000000001807. Epub 2015 Jul 2.

36.

Abnormal daytime sleepiness in dementia with Lewy bodies compared to Alzheimer's disease using the Multiple Sleep Latency Test.

Ferman TJ, Smith GE, Dickson DW, Graff-Radford NR, Lin SC, Wszolek Z, Van Gerpen JA, Uitti R, Knopman DS, Petersen RC, Parisi JE, Silber MH, Boeve BF.

Alzheimers Res Ther. 2014 Dec 10;6(9):76. doi: 10.1186/s13195-014-0076-z. eCollection 2014.

37.

Shaky legs: more than meets the eyes (or ears).

van Gerpen JA.

Parkinsonism Relat Disord. 2015 Feb;21(2):162. doi: 10.1016/j.parkreldis.2014.10.030. Epub 2014 Nov 20. No abstract available.

PMID:
25481852
38.

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.

39.

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.

40.

A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia.

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, Rudzińska M, Momčilović D, Jinnah HA, Frei K, Pfeiffer RF, LeDoux MS.

Mol Genet Genomic Med. 2014 May;2(3):261-72. doi: 10.1002/mgg3.67. Epub 2014 Feb 11.

41.

A retrospective study of the clinical and electrophysiological characteristics of 32 patients with orthostatic myoclonus.

van Gerpen JA.

Parkinsonism Relat Disord. 2014 Aug;20(8):889-93. doi: 10.1016/j.parkreldis.2014.05.006. Epub 2014 May 22.

42.

Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease.

Shannon B, Soto-Ortolaza A, Rayaprolu S, Cannon HD, Labbé 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.

Neurobiol Aging. 2014 Aug;35(8):1958.e1-2. doi: 10.1016/j.neurobiolaging.2014.03.004. Epub 2014 Mar 5.

43.

Familial progressive supranuclear palsy: a literature review.

Fujioka S, Van Gerpen JA, Uitti RJ, Dickson DW, Wszolek ZK.

Neurodegener Dis. 2014;13(2-3):180-2. doi: 10.1159/000354975. Epub 2013 Sep 24. Review.

44.

Overdrainage shunt complications in idiopathic normal-pressure hydrocephalus and lumbar puncture opening pressure.

Khan QU, Wharen RE, Grewal SS, Thomas CS, Deen HG Jr, Reimer R, Van Gerpen JA, Crook JE, Graff-Radford NR.

J Neurosurg. 2013 Dec;119(6):1498-502. doi: 10.3171/2013.7.JNS13484. Epub 2013 Aug 9.

PMID:
23930853
45.

Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations.

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, Broderick D, Wszolek ZK.

Parkinsonism Relat Disord. 2013 Oct;19(10):869-77. doi: 10.1016/j.parkreldis.2013.05.013. Epub 2013 Jun 17.

46.

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.

47.

Lifting the "FOG" with laser generated visual-cueing.

Van Gerpen JA, Rucker CT, Matthews M, Saucier MA.

Neurologist. 2012 Sep;18(5):298-301. doi: 10.1097/NRL.0b013e318266f919.

PMID:
22931738
48.

MRI characteristics and scoring in HDLS due to CSF1R gene mutations.

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, Broderick D, Wszolek ZK.

Neurology. 2012 Aug 7;79(6):566-74. doi: 10.1212/WNL.0b013e318263575a. Epub 2012 Jul 25.

49.

Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.

LeDoux MS, Xiao J, Rudzińska M, Bastian RW, Wszolek ZK, Van Gerpen JA, Puschmann A, Momčilović D, Vemula SR, Zhao Y.

Parkinsonism Relat Disord. 2012 Jun;18(5):414-25. doi: 10.1016/j.parkreldis.2012.02.001. Epub 2012 Feb 28. Review.

50.

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, MacKenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Cairns NJ, Ghetti B, Spina S, Garbern J, Tselis AC, Uitti R, Das P, Van Gerpen JA, Meschia JF, Levy S, Broderick DF, Graff-Radford N, Ross OA, Miller BB, Swerdlow RH, Dickson DW, Wszolek ZK.

Nat Genet. 2011 Dec 25;44(2):200-5. doi: 10.1038/ng.1027.

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