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Items: 1 to 50 of 219

1.

The genetic and clinico-pathological profile of early-onset progressive supranuclear palsy.

Jabbari E, Woodside J, Tan MMX, Pavese N, Bandmann O, Ghosh BCP, Massey LA, Capps E, Warner TT, Lees AJ, Revesz T, Holton JL, Williams NM, Grosset DG, Morris HR.

Mov Disord. 2019 Jul 12. doi: 10.1002/mds.27786. [Epub ahead of print]

PMID:
31299107
2.

Improving diagnostic accuracy of multiple system atrophy: a clinicopathological study.

Miki Y, Foti SC, Asi YT, Tsushima E, Quinn N, Ling H, Holton JL.

Brain. 2019 Jul 9. pii: awz189. doi: 10.1093/brain/awz189. [Epub ahead of print]

PMID:
31289815
3.

A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders.

Lamb R, Rohrer JD, Real R, Lubbe SJ, Waite AJ, Blake DJ, Walters RJ, Lashley T, Revesz T, Holton JL, Morris HR.

Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3). pii: a003913. doi: 10.1101/mcs.a003913. Print 2019 Jun.

4.

Neuropathological progression of clinical Parkinson disease subtypes.

De Pablo-Fernández E, Lees AJ, Holton JL, Warner TT.

Nat Rev Neurol. 2019 Jun;15(6):361. doi: 10.1038/s41582-019-0197-x. No abstract available.

PMID:
31048772
5.

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.

Bugiardini E, Mitchell AL, Rosa ID, Horning-Do HT, Pitmann AM, Poole OV, Holton JL, Shah S, Woodward C, Hargreaves I, Quinlivan R, Amunts A, Wiesner RJ, Houlden H, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A.

Hum Mol Genet. 2019 Aug 15;28(16):2711-2719. doi: 10.1093/hmg/ddz093.

6.

Cerebral mitochondrial electron transport chain dysfunction in multiple system atrophy and Parkinson's disease.

Foti SC, Hargreaves I, Carrington S, Kiely AP, Houlden H, Holton JL.

Sci Rep. 2019 Apr 25;9(1):6559. doi: 10.1038/s41598-019-42902-7.

7.

Review: Clinical, neuropathological and genetic features of Lewy body dementias.

Hansen D, Ling H, Lashley T, Holton JL, Warner TT.

Neuropathol Appl Neurobiol. 2019 Apr 12. doi: 10.1111/nan.12554. [Epub ahead of print] Review.

PMID:
30977926
8.

Primum non nocere: a call for balance when reporting on CTE.

Stewart W, Allinson K, Al-Sarraj S, Bachmeier C, Barlow K, Belli A, Burns MP, Carson A, Crawford F, Dams-O'Connor K, Diaz-Arrastia R, Dixon CE, Edlow BL, Ferguson S, Fischl B, Folkerth RD, Gentleman S, Giza CC, Grady MS, Helmy A, Herceg M, Holton JL, Howell D, Hutchinson PJ, Iacono D, Iglesias JE, Ikonomovic MD, Johnson VE, Keene CD, Kofler JK, Koliatsos VE, Lee EB, Levin H, Lifshitz J, Ling H, Loane DJ, Love S, Maas AI, Marklund N, Master CL, McElvenny DM, Meaney DF, Menon DK, Montine TJ, Mouzon B, Mufson EJ, Ojo JO, Prins M, Revesz T, Ritchie CW, Smith C, Sylvester R, Tang CY, Trojanowski JQ, Urankar K, Vink R, Wellington C, Wilde EA, Wilson L, Yeates K, Smith DH.

Lancet Neurol. 2019 Mar;18(3):231-233. doi: 10.1016/S1474-4422(19)30020-1. Epub 2019 Feb 12. No abstract available. Erratum in: Lancet Neurol. 2019 Apr;18(4):e3.

9.

Prognosis and Neuropathologic Correlation of Clinical Subtypes of Parkinson Disease.

De Pablo-Fernández E, Lees AJ, Holton JL, Warner TT.

JAMA Neurol. 2019 Apr 1;76(4):470-479. doi: 10.1001/jamaneurol.2018.4377.

PMID:
30640364
10.

Association of autonomic symptoms with disease progression and survival in progressive supranuclear palsy.

Oliveira MCB, Ling H, Lees AJ, Holton JL, De Pablo-Fernandez E, Warner TT.

J Neurol Neurosurg Psychiatry. 2019 May;90(5):555-561. doi: 10.1136/jnnp-2018-319374. Epub 2018 Dec 31.

PMID:
30598430
11.

Reply to: Young- onset multiple system atrophy.

Batla A, De Pablo-Fernandez E, Erro R, Reich M, Calandra-Buonaura G, Barbosa P, Balint B, Ling H, Islam S, Cortelli P, Volkmann J, Quinn N, Holton JL, Warner TT, Bhatia KP.

Mov Disord. 2018 Dec;33(12):1975-1976. doi: 10.1002/mds.27572. No abstract available.

PMID:
30578697
12.

Neuropathology of Circadian Alterations in Parkinson Disease-Reply.

De Pablo-Fernández E, Warner TT, Holton JL.

JAMA Neurol. 2019 Jan 1;76(1):115-116. doi: 10.1001/jamaneurol.2018.3758. No abstract available.

PMID:
30508142
13.

Autophagy in neurodegeneration and aging.

Miki Y, Holton JL, Wakabayashi K.

Aging (Albany NY). 2018 Nov 14;10(12):3632-3633. doi: 10.18632/aging.101652. No abstract available.

14.

Histological heterogeneity in a large clinical cohort of juvenile idiopathic inflammatory myopathy: analysis by myositis autoantibody and pathological features.

Yasin SA, Schutz PW, Deakin CT, Sag E, Varsani H, Simou S, Marshall LR, Tansley SL, McHugh NJ, Holton JL, Wedderburn LR, Jacques TS; UK Juvenile Dermatomyositis Research Group (UK and Ireland).

Neuropathol Appl Neurobiol. 2019 Aug;45(5):495-512. doi: 10.1111/nan.12528. Epub 2019 Mar 11.

PMID:
30378704
15.

The aftermath of boxing revisited: identifying chronic traumatic encephalopathy pathology in the original Corsellis boxer series.

Goldfinger MH, Ling H, Tilley BS, Liu AKL, Davey K, Holton JL, Revesz T, Gentleman SM.

Acta Neuropathol. 2018 Dec;136(6):973-974. doi: 10.1007/s00401-018-1926-8. Epub 2018 Oct 30. No abstract available.

16.

Effect of Fluorinert on the Histological Properties of Formalin-Fixed Human Brain Tissue.

Iglesias JE, Crampsie S, Strand C, Tachrount M, Thomas DL, Holton JL.

J Neuropathol Exp Neurol. 2018 Dec 1;77(12):1085-1090. doi: 10.1093/jnen/nly098.

17.

Young-onset multiple system atrophy: Clinical and pathological features.

Batla A, De Pablo-Fernandez E, Erro R, Reich M, Calandra-Buonaura G, Barbosa P, Balint B, Ling H, Islam S, Cortelli P, Volkmann J, Quinn N, Holton JL, Warner TT, Bhatia KP.

Mov Disord. 2018 Jul;33(7):1099-1107. doi: 10.1002/mds.27450.

PMID:
30153390
18.

Pathological correlates of white matter hyperintensities in a case of progranulin mutation associated frontotemporal dementia.

Woollacott IOC, Bocchetta M, Sudre CH, Ridha BH, Strand C, Courtney R, Ourselin S, Cardoso MJ, Warren JD, Rossor MN, Revesz T, Fox NC, Holton JL, Lashley T, Rohrer JD.

Neurocase. 2018 Jun;24(3):166-174. doi: 10.1080/13554794.2018.1506039. Epub 2018 Aug 16.

19.

Disease-related patterns of in vivo pathology in Corticobasal syndrome.

Niccolini F, Wilson H, Hirschbichler S, Yousaf T, Pagano G, Whittington A, Caminiti SP, Erro R, Holton JL, Jaunmuktane Z, Esposito M, Martino D, Abdul A, Passchier J, Rabiner EA, Gunn RN, Bhatia KP, Politis M; Alzheimer’s Disease Neuroimaging Initiative.

Eur J Nucl Med Mol Imaging. 2018 Dec;45(13):2413-2425. doi: 10.1007/s00259-018-4104-2. Epub 2018 Aug 8.

20.

Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype.

Jabbari E, Woodside J, Tan MMX, Shoai M, Pittman A, Ferrari R, Mok KY, Zhang D, Reynolds RH, de Silva R, Grimm MJ, Respondek G, Müller U, Al-Sarraj S, Gentleman SM, Lees AJ, Warner TT, Hardy J, Revesz T, Höglinger GU, Holton JL, Ryten M, Morris HR.

Ann Neurol. 2018 Oct;84(4):485-496. doi: 10.1002/ana.25308. Epub 2018 Sep 15.

21.

The presubiculum is preserved from neurodegenerative changes in Alzheimer's disease.

Murray CE, Gami-Patel P, Gkanatsiou E, Brinkmalm G, Portelius E, Wirths O, Heywood W, Blennow K, Ghiso J, Holton JL, Mills K, Zetterberg H, Revesz T, Lashley T.

Acta Neuropathol Commun. 2018 Jul 20;6(1):62. doi: 10.1186/s40478-018-0563-8.

22.

Exploring the putative role of kallikrein-6, calpain-1 and cathepsin-D in the proteolytic degradation of α-synuclein in multiple system atrophy.

Kiely AP, Miners JS, Courtney R, Strand C, Love S, Holton JL.

Neuropathol Appl Neurobiol. 2019 Jun;45(4):347-360. doi: 10.1111/nan.12512. Epub 2018 Aug 29.

PMID:
29993134
23.

Somatic copy number gains of α-synuclein (SNCA) in Parkinson's disease and multiple system atrophy brains.

Mokretar K, Pease D, Taanman JW, Soenmez A, Ejaz A, Lashley T, Ling H, Gentleman S, Houlden H, Holton JL, Schapira AHV, Nacheva E, Proukakis C.

Brain. 2018 Aug 1;141(8):2419-2431. doi: 10.1093/brain/awy157.

24.

Immunohistochemical and Molecular Investigations Show Alteration in the Inflammatory Profile of Multiple System Atrophy Brain.

Kiely AP, Murray CE, Foti SC, Benson BC, Courtney R, Strand C, Lashley T, Holton JL.

J Neuropathol Exp Neurol. 2018 Jul 1;77(7):598-607. doi: 10.1093/jnen/nly035.

25.

A Histologic Study of the Circadian System in Parkinson Disease, Multiple System Atrophy, and Progressive Supranuclear Palsy.

De Pablo-Fernández E, Courtney R, Warner TT, Holton JL.

JAMA Neurol. 2018 Aug 1;75(8):1008-1012. doi: 10.1001/jamaneurol.2018.0640.

26.

No evidence of iatrogenic human transmission in autopsy confirmed multiple system atrophy.

De Pablo-Fernandez E, Cerdán Santacruz D, Warner TT, Holton JL.

Mov Disord. 2018 Jul;33(7):1183-1184. doi: 10.1002/mds.27370. Epub 2018 Mar 23. No abstract available.

PMID:
29570847
27.

GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).

Desikan M, Scalco RS, Manole A, Gardiner AR, Schapira AH, Lachmann RH, Houlden H, Holton JL, Phadke R, Quinlivan R.

Neuromuscul Disord. 2018 Apr;28(4):346-349. doi: 10.1016/j.nmd.2018.01.002. Epub 2018 Jan 10.

PMID:
29422440
28.

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.

Matthews E, Neuwirth C, Jaffer F, Scalco RS, Fialho D, Parton M, Raja Rayan D, Suetterlin K, Sud R, Spiegel R, Mein R, Houlden H, Schaefer A, Healy E, Palace J, Quinlivan R, Treves S, Holton JL, Jungbluth H, Hanna MG.

Neurology. 2018 Jan 30;90(5):e412-e418. doi: 10.1212/WNL.0000000000004894. Epub 2018 Jan 3.

29.

Reduced LRRK2 in association with retromer dysfunction in post-mortem brain tissue from LRRK2 mutation carriers.

Zhao Y, Perera G, Takahashi-Fujigasaki J, Mash DC, Vonsattel JPG, Uchino A, Hasegawa K, Jeremy Nichols R, Holton JL, Murayama S, Dzamko N, Halliday GM.

Brain. 2018 Feb 1;141(2):486-495. doi: 10.1093/brain/awx344.

30.

Development of phospho-specific Rab protein antibodies to monitor in vivo activity of the LRRK2 Parkinson's disease kinase.

Lis P, Burel S, Steger M, Mann M, Brown F, Diez F, Tonelli F, Holton JL, Ho PW, Ho SL, Chou MY, Polinski NK, Martinez TN, Davies P, Alessi DR.

Biochem J. 2018 Jan 2;475(1):1-22. doi: 10.1042/BCJ20170802.

31.

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy.

Bugiardini E, Rossor AM, Lynch DS, Swash M, Pittman AM, Blake JC, Hanna MG, Houlden H, Holton JL, Reilly MM, Matthews E.

Neurol Genet. 2017 Jul 6;3(4):e168. doi: 10.1212/NXG.0000000000000168. eCollection 2017 Aug. No abstract available.

32.

Association of Autonomic Dysfunction With Disease Progression and Survival in Parkinson Disease.

De Pablo-Fernandez E, Tur C, Revesz T, Lees AJ, Holton JL, Warner TT.

JAMA Neurol. 2017 Aug 1;74(8):970-976. doi: 10.1001/jamaneurol.2017.1125.

33.

Calpainopathy with macrophage-rich, regional inflammatory infiltrates.

Schutz PW, Scalco RS, Barresi R, Houlden H, Parton M, Holton JL.

Neuromuscul Disord. 2017 Aug;27(8):738-741. doi: 10.1016/j.nmd.2017.04.012. Epub 2017 Apr 27.

PMID:
28602176
34.

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.

Bugiardini E, Poole OV, Manole A, Pittman AM, Horga A, Hargreaves I, Woodward CE, Sweeney MG, Holton JL, Taanman JW, Plant GT, Poulton J, Zeviani M, Ghezzi D, Taylor J, Smith C, Fratter C, Kanikannan MA, Paramasivam A, Thangaraj K, Spinazzola A, Holt IJ, Houlden H, Hanna MG, Pitceathly RDS.

Neurol Genet. 2017 May 2;3(3):e149. doi: 10.1212/NXG.0000000000000149. eCollection 2017 Jun.

35.

Mixed pathologies including chronic traumatic encephalopathy account for dementia in retired association football (soccer) players.

Ling H, Morris HR, Neal JW, Lees AJ, Hardy J, Holton JL, Revesz T, Williams DD.

Acta Neuropathol. 2017 Mar;133(3):337-352. doi: 10.1007/s00401-017-1680-3. Epub 2017 Feb 15.

36.

Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis.

Güttsches AK, Brady S, Krause K, Maerkens A, Uszkoreit J, Eisenacher M, Schreiner A, Galozzi S, Mertens-Rill J, Tegenthoff M, Holton JL, Harms MB, Lloyd TE, Vorgerd M, Weihl CC, Marcus K, Kley RA.

Ann Neurol. 2017 Feb;81(2):227-239. doi: 10.1002/ana.24847. Epub 2017 Jan 27.

37.

Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures.

Brady S, Healy EG, Gang Q, Parton M, Quinlivan R, Jacob S, Curtis E, Al-Sarraj S, Sewry CA, Hanna MG, Houlden H, Beeson D, Holton JL.

J Neuropathol Exp Neurol. 2016 Dec;75(12):1171-1178.

PMID:
27941137
38.

LRRK2 levels and phosphorylation in Parkinson's disease brain and cases with restricted Lewy bodies.

Dzamko N, Gysbers AM, Bandopadhyay R, Bolliger MF, Uchino A, Zhao Y, Takao M, Wauters S, van de Berg WD, Takahashi-Fujigasaki J, Nichols RJ, Holton JL, Murayama S, Halliday GM.

Mov Disord. 2017 Mar;32(3):423-432. doi: 10.1002/mds.26892. Epub 2016 Dec 2.

PMID:
27911006
39.

Hypothalamic α-synuclein and its relation to weight loss and autonomic symptoms in Parkinson's disease.

De Pablo-Fernandez E, Courtney R, Holton JL, Warner TT.

Mov Disord. 2017 Feb;32(2):296-298. doi: 10.1002/mds.26868. Epub 2016 Nov 28. No abstract available.

PMID:
27892607
40.

Astrogliopathy predominates the earliest stage of corticobasal degeneration pathology.

Ling H, Kovacs GG, Vonsattel JP, Davey K, Mok KY, Hardy J, Morris HR, Warner TT, Holton JL, Revesz T.

Brain. 2016 Dec;139(Pt 12):3237-3252. Epub 2016 Oct 25.

PMID:
27797812
41.

Analysis of the prion protein gene in multiple system atrophy.

Chelban V, Manole A, Pihlstrøm L, Schottlaender L, Efthymiou S, OConnor E, Meissner WG, Holton JL, Houlden H.

Neurobiol Aging. 2017 Jan;49:216.e15-216.e18. doi: 10.1016/j.neurobiolaging.2016.09.021. Epub 2016 Oct 3.

42.

Muscle Biopsy Findings in Combination With Myositis-Specific Autoantibodies Aid Prediction of Outcomes in Juvenile Dermatomyositis.

Deakin CT, Yasin SA, Simou S, Arnold KA, Tansley SL, Betteridge ZE, McHugh NJ, Varsani H, Holton JL, Jacques TS, Pilkington CA, Nistala K, Wedderburn LR; UK Juvenile Dermatomyositis Research Group.

Arthritis Rheumatol. 2016 Nov;68(11):2806-2816. doi: 10.1002/art.39753. Epub 2016 Oct 9.

43.

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

Gang Q, Bettencourt C, Machado PM, Brady S, Holton JL, Pittman AM, Hughes D, Healy E, Parton M, Hilton-Jones D, Shieh PB, Needham M, Liang C, Zanoteli E, de Camargo LV, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Singleton AB, Hanna MG, Houlden H; Muscle Study Group and The International IBM Genetics Consortium.

Neurobiol Aging. 2016 Nov;47:218.e1-218.e9. doi: 10.1016/j.neurobiolaging.2016.07.024. Epub 2016 Aug 8.

44.

A genome-wide association study in multiple system atrophy.

Sailer A, Scholz SW, Nalls MA, Schulte C, Federoff M, Price TR, Lees A, Ross OA, Dickson DW, Mok K, Mencacci NE, Schottlaender L, Chelban V, Ling H, O'Sullivan SS, Wood NW, Traynor BJ, Ferrucci L, Federoff HJ, Mhyre TR, Morris HR, Deuschl G, Quinn N, Widner H, Albanese A, Infante J, Bhatia KP, Poewe W, Oertel W, Höglinger GU, Wüllner U, Goldwurm S, Pellecchia MT, Ferreira J, Tolosa E, Bloem BR, Rascol O, Meissner WG, Hardy JA, Revesz T, Holton JL, Gasser T, Wenning GK, Singleton AB, Houlden H; European Multiple System Atrophy Study Group and the UK Multiple System Atrophy Study Group.

Neurology. 2016 Oct 11;87(15):1591-1598. Epub 2016 Sep 14.

45.

MSA-C or SCA 17? A clinicopathological case update.

Doherty KM, De Pablo-Fernandez E, Houlden H, Polke JM, Lees AJ, Warner TT, Holton JL.

Mov Disord. 2016 Oct;31(10):1582-1584. doi: 10.1002/mds.26741. No abstract available.

PMID:
27477540
46.

Neuropathological criteria of anti-IgLON5-related tauopathy.

Gelpi E, Höftberger R, Graus F, Ling H, Holton JL, Dawson T, Popovic M, Pretnar-Oblak J, Högl B, Schmutzhard E, Poewe W, Ricken G, Santamaria J, Dalmau J, Budka H, Revesz T, Kovacs GG.

Acta Neuropathol. 2016 Oct;132(4):531-43. doi: 10.1007/s00401-016-1591-8. Epub 2016 Jun 29.

47.

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.

Scalco RS, Gardiner AR, Pitceathly RD, Hilton-Jones D, Schapira AH, Turner C, Parton M, Desikan M, Barresi R, Marsh J, Manzur AY, Childs AM, Feng L, Murphy E, Lamont PJ, Ravenscroft G, Wallefeld W, Davis MR, Laing NG, Holton JL, Fialho D, Bushby K, Hanna MG, Phadke R, Jungbluth H, Houlden H, Quinlivan R.

Neuromuscul Disord. 2016 Aug;26(8):504-10. doi: 10.1016/j.nmd.2016.05.006. Epub 2016 May 11.

48.

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

Rodríguez Cruz PM, Belaya K, Basiri K, Sedghi M, Farrugia ME, Holton JL, Liu WW, Maxwell S, Petty R, Walls TJ, Kennett R, Pitt M, Sarkozy A, Parton M, Lochmüller H, Muntoni F, Palace J, Beeson D.

J Neurol Neurosurg Psychiatry. 2016 Aug;87(8):802-9. doi: 10.1136/jnnp-2016-313163. Epub 2016 May 4.

49.

Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.

Rebelo AP, Abrams AJ, Cottenie E, Horga A, Gonzalez M, Bis DM, Sanchez-Mejias A, Pinto M, Buglo E, Markel K, Prince J, Laura M, Houlden H, Blake J, Woodward C, Sweeney MG, Holton JL, Hanna M, Dallman JE, Auer-Grumbach M, Reilly MM, Zuchner S.

Am J Hum Genet. 2016 Apr 7;98(4):597-614. doi: 10.1016/j.ajhg.2016.02.022. Epub 2016 Mar 31.

50.

Targeting protein homeostasis in sporadic inclusion body myositis.

Ahmed M, Machado PM, Miller A, Spicer C, Herbelin L, He J, Noel J, Wang Y, McVey AL, Pasnoor M, Gallagher P, Statland J, Lu CH, Kalmar B, Brady S, Sethi H, Samandouras G, Parton M, Holton JL, Weston A, Collinson L, Taylor JP, Schiavo G, Hanna MG, Barohn RJ, Dimachkie MM, Greensmith L.

Sci Transl Med. 2016 Mar 23;8(331):331ra41. doi: 10.1126/scitranslmed.aad4583.

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