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Items: 50

1.

In vivo detection of cerebral tau pathology in long-term survivors of traumatic brain injury.

Gorgoraptis N, Li LM, Whittington A, Zimmerman KA, Maclean LM, McLeod C, Ross E, Heslegrave A, Zetterberg H, Passchier J, Matthews PM, Gunn RN, McMillan TM, Sharp DJ.

Sci Transl Med. 2019 Sep 4;11(508). pii: eaaw1993. doi: 10.1126/scitranslmed.aaw1993.

PMID:
31484787
2.

The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk.

Deming Y, Filipello F, Cignarella F, Cantoni C, Hsu S, Mikesell R, Li Z, Del-Aguila JL, Dube U, Farias FG, Bradley J, Budde J, Ibanez L, Fernandez MV, Blennow K, Zetterberg H, Heslegrave A, Johansson PM, Svensson J, Nellgård B, Lleo A, Alcolea D, Clarimon J, Rami L, Molinuevo JL, Suárez-Calvet M, Morenas-Rodríguez E, Kleinberger G, Ewers M, Harari O, Haass C, Brett TJ, Benitez BA, Karch CM, Piccio L, Cruchaga C.

Sci Transl Med. 2019 Aug 14;11(505). pii: eaau2291. doi: 10.1126/scitranslmed.aau2291.

PMID:
31413141
3.

Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X.

Kagiava A, Richter J, Tryfonos C, Karaiskos C, Heslegrave AJ, Sargiannidou I, Rossor AM, Zetterberg H, Reilly MM, Christodoulou C, Kleopa KA.

Hum Mol Genet. 2019 Aug 14. pii: ddz199. doi: 10.1093/hmg/ddz199. [Epub ahead of print]

PMID:
31411673
4.

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group.

Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1.

PMID:
31187503
5.

Breaking the cycle: Reversal of flux in the tricarboxylic acid cycle by dimethyl fumarate.

Gafson AR, Savva C, Thorne T, David M, Gomez-Romero M, Lewis MR, Nicholas R, Heslegrave A, Zetterberg H, Matthews PM.

Neurol Neuroimmunol Neuroinflamm. 2019 Apr 22;6(3):e562. doi: 10.1212/NXI.0000000000000562. eCollection 2019 May.

6.

Searching for novel cerebrospinal fluid biomarkers of tau pathology in frontotemporal dementia: an elusive quest.

Foiani MS, Cicognola C, Ermann N, Woollacott IOC, Heller C, Heslegrave AJ, Keshavan A, Paterson RW, Ye K, Kornhuber J, Fox NC, Schott JM, Warren JD, Lewczuk P, Zetterberg H, Blennow K, Höglund K, Rohrer JD.

J Neurol Neurosurg Psychiatry. 2019 Jul;90(7):740-746. doi: 10.1136/jnnp-2018-319266. Epub 2019 Apr 13.

7.

Exercise as a potential modulator of inflammation in patients with Alzheimer's disease measured in cerebrospinal fluid and plasma.

Jensen CS, Bahl JM, Østergaard LB, Høgh P, Wermuth L, Heslegrave A, Zetterberg H, Heegaard NHH, Hasselbalch SG, Simonsen AH.

Exp Gerontol. 2019 Jul 1;121:91-98. doi: 10.1016/j.exger.2019.04.003. Epub 2019 Apr 11.

8.

Familial Alzheimer's disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta.

Arber C, Toombs J, Lovejoy C, Ryan NS, Paterson RW, Willumsen N, Gkanatsiou E, Portelius E, Blennow K, Heslegrave A, Schott JM, Hardy J, Lashley T, Fox NC, Zetterberg H, Wray S.

Mol Psychiatry. 2019 Apr 12. doi: 10.1038/s41380-019-0410-8. [Epub ahead of print]

PMID:
30980041
9.

Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy.

Schiza N, Georgiou E, Kagiava A, Médard JJ, Richter J, Tryfonos C, Sargiannidou I, Heslegrave AJ, Rossor AM, Zetterberg H, Reilly MM, Christodoulou C, Chrast R, Kleopa KA.

Brain. 2019 May 1;142(5):1227-1241. doi: 10.1093/brain/awz064.

10.

Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy.

Lombardi V, Querin G, Ziff OJ, Zampedri L, Martinelli I, Heller C, Foiani M, Bertolin C, Lu CH, Malik B, Allen K, Rinaldi C, Zetterberg H, Heslegrave A, Greensmith L, Hanna M, Soraru G, Malaspina A, Fratta P.

Neurology. 2019 Mar 12;92(11):e1205-e1211. doi: 10.1212/WNL.0000000000007097. Epub 2019 Feb 20.

11.

Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimer's disease.

Weston PSJ, Poole T, O'Connor A, Heslegrave A, Ryan NS, Liang Y, Druyeh R, Mead S, Blennow K, Schott JM, Frost C, Zetterberg H, Fox NC.

Alzheimers Res Ther. 2019 Feb 20;11(1):19. doi: 10.1186/s13195-019-0472-5.

12.

Correction: The prognostic value of neurofilament levels in patients with sepsis-associated encephalopathy - A prospective, pilot observational study.

Ehler J, Petzold A, Wittstock M, Kolbaske S, Gloger M, Henschel J, Heslegrave A, Zetterberg H, Lunn MP, Rommer PS, Grossmann A, Sharshar T, Richter G, Nöldge-Schomburg G, Sauer M.

PLoS One. 2019 Feb 20;14(2):e0212830. doi: 10.1371/journal.pone.0212830. eCollection 2019.

13.

The prognostic value of neurofilament levels in patients with sepsis-associated encephalopathy - A prospective, pilot observational study.

Ehler J, Petzold A, Wittstock M, Kolbaske S, Gloger M, Henschel J, Heslegrave A, Zetterberg H, Lunn MP, Rommer PS, Grossmann A, Sharshar T, Richter G, Nöldge-Schomburg G, Sauer M.

PLoS One. 2019 Jan 24;14(1):e0211184. doi: 10.1371/journal.pone.0211184. eCollection 2019. Erratum in: PLoS One. 2019 Feb 20;14(2):e0212830.

14.

CSF concentrations of soluble TREM2 as a marker of microglial activation in HIV-1 infection.

Gisslén M, Heslegrave A, Veleva E, Yilmaz A, Andersson LM, Hagberg L, Spudich S, Fuchs D, Price RW, Zetterberg H.

Neurol Neuroimmunol Neuroinflamm. 2018 Nov 7;6(1):e512. doi: 10.1212/NXI.0000000000000512. eCollection 2019 Jan.

15.

Plasma Markers of Neurodegeneration Are Raised in Friedreich's Ataxia.

Zeitlberger AM, Thomas-Black G, Garcia-Moreno H, Foiani M, Heslegrave AJ, Zetterberg H, Giunti P.

Front Cell Neurosci. 2018 Oct 30;12:366. doi: 10.3389/fncel.2018.00366. eCollection 2018.

16.

Serum neurofilament light levels correlate with severity measures and neurodegeneration markers in autosomal dominant Alzheimer's disease.

Sánchez-Valle R, Heslegrave A, Foiani MS, Bosch B, Antonell A, Balasa M, Lladó A, Zetterberg H, Fox NC.

Alzheimers Res Ther. 2018 Nov 3;10(1):113. doi: 10.1186/s13195-018-0439-y.

17.

Interlaboratory validation of cerebrospinal fluid α-synuclein quantification in the diagnosis of sporadic Creutzfeldt-Jakob disease.

Kruse N, Heslegrave A, Gupta V, Foiani M, Villar-Piqué A, Schmitz M, Lehmann S, Teunissen C, Blennow K, Zetterberg H, Mollenhauer B, Zerr I, Llorens F.

Alzheimers Dement (Amst). 2018 Jul 7;10:461-470. doi: 10.1016/j.dadm.2018.06.005. eCollection 2018.

18.

CSF pro-orexin and amyloid-β38 expression in Alzheimer's disease and frontotemporal dementia.

Heywood WE, Hallqvist J, Heslegrave AJ, Zetterberg H, Fenoglio C, Scarpini E, Rohrer JD, Galimberti D, Mills K.

Neurobiol Aging. 2018 Dec;72:171-176. doi: 10.1016/j.neurobiolaging.2018.08.019. Epub 2018 Aug 25.

19.

Stability of blood-based biomarkers of Alzheimer's disease over multiple freeze-thaw cycles.

Keshavan A, Heslegrave A, Zetterberg H, Schott JM.

Alzheimers Dement (Amst). 2018 Jul 2;10:448-451. doi: 10.1016/j.dadm.2018.06.001. eCollection 2018.

20.

Evaluation of mutant huntingtin and neurofilament proteins as potential markers in Huntington's disease.

Byrne LM, Rodrigues FB, Johnson EB, Wijeratne PA, De Vita E, Alexander DC, Palermo G, Czech C, Schobel S, Scahill RI, Heslegrave A, Zetterberg H, Wild EJ.

Sci Transl Med. 2018 Sep 12;10(458). pii: eaat7108. doi: 10.1126/scitranslmed.aat7108.

PMID:
30209243
21.

Inflammatory markers of CHMP2B-mediated frontotemporal dementia.

Roos P, von Essen MR, Nielsen TT, Johannsen P, Stokholm J, Bie AS, Waldemar G, Simonsen AH, Heslegrave A, Zetterberg H; FReJA consortium, Sellebjerg F, Nielsen JE.

J Neuroimmunol. 2018 Nov 15;324:136-142. doi: 10.1016/j.jneuroim.2018.08.009. Epub 2018 Aug 17.

PMID:
30193769
22.

Human Induced Pluripotent Stem Cell-Derived Microglia-Like Cells Harboring TREM2 Missense Mutations Show Specific Deficits in Phagocytosis.

Garcia-Reitboeck P, Phillips A, Piers TM, Villegas-Llerena C, Butler M, Mallach A, Rodrigues C, Arber CE, Heslegrave A, Zetterberg H, Neumann H, Neame S, Houlden H, Hardy J, Pocock JM.

Cell Rep. 2018 Aug 28;24(9):2300-2311. doi: 10.1016/j.celrep.2018.07.094.

23.

Cerebrospinal fluid soluble TREM2 levels in frontotemporal dementia differ by genetic and pathological subgroup.

Woollacott IOC, Nicholas JM, Heslegrave A, Heller C, Foiani MS, Dick KM, Russell LL, Paterson RW, Keshavan A, Fox NC, Warren JD, Schott JM, Zetterberg H, Rohrer JD.

Alzheimers Res Ther. 2018 Aug 16;10(1):79. doi: 10.1186/s13195-018-0405-8.

24.

Cerebrospinal fluid tau, Aβ, and sTREM2 in Former National Football League Players: Modeling the relationship between repetitive head impacts, microglial activation, and neurodegeneration.

Alosco ML, Tripodis Y, Fritts NG, Heslegrave A, Baugh CM, Conneely S, Mariani M, Martin BM, Frank S, Mez J, Stein TD, Cantu RC, McKee AC, Shaw LM, Trojanowski JQ, Blennow K, Zetterberg H, Stern RA.

Alzheimers Dement. 2018 Sep;14(9):1159-1170. doi: 10.1016/j.jalz.2018.05.004. Epub 2018 Jul 23.

25.

Amyloid β peptides are differentially vulnerable to preanalytical surface exposure, an effect incompletely mitigated by the use of ratios.

Toombs J, Foiani MS, Wellington H, Paterson RW, Arber C, Heslegrave A, Lunn MP, Schott JM, Wray S, Zetterberg H.

Alzheimers Dement (Amst). 2018 Mar 22;10:311-321. doi: 10.1016/j.dadm.2018.02.005. eCollection 2018.

26.

Molecular biomarkers of Alzheimer's disease: progress and prospects.

Lashley T, Schott JM, Weston P, Murray CE, Wellington H, Keshavan A, Foti SC, Foiani M, Toombs J, Rohrer JD, Heslegrave A, Zetterberg H.

Dis Model Mech. 2018 May 8;11(5). pii: dmm031781. doi: 10.1242/dmm.031781. Review.

27.

Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome.

Strydom A, Heslegrave A, Startin CM, Mok KY, Hardy J, Groet J, Nizetic D, Zetterberg H; LonDownS Consortium.

Alzheimers Res Ther. 2018 Apr 10;10(1):39. doi: 10.1186/s13195-018-0367-x.

28.

Cerebrospinal fluid in the differential diagnosis of Alzheimer's disease: clinical utility of an extended panel of biomarkers in a specialist cognitive clinic.

Paterson RW, Slattery CF, Poole T, Nicholas JM, Magdalinou NK, Toombs J, Chapman MD, Lunn MP, Heslegrave AJ, Foiani MS, Weston PSJ, Keshavan A, Rohrer JD, Rossor MN, Warren JD, Mummery CJ, Blennow K, Fox NC, Zetterberg H, Schott JM.

Alzheimers Res Ther. 2018 Mar 20;10(1):32. doi: 10.1186/s13195-018-0361-3.

29.

Cerebrospinal fluid neurogranin and TREM2 in Huntington's disease.

Byrne LM, Rodrigues FB, Johnson EB, De Vita E, Blennow K, Scahill R, Zetterberg H, Heslegrave A, Wild EJ.

Sci Rep. 2018 Mar 9;8(1):4260. doi: 10.1038/s41598-018-21788-x.

30.

Neurofilament light chain and tau concentrations are markedly increased in the serum of patients with sporadic Creutzfeldt-Jakob disease, and tau correlates with rate of disease progression.

Thompson AGB, Luk C, Heslegrave AJ, Zetterberg H, Mead SH, Collinge J, Jackson GS.

J Neurol Neurosurg Psychiatry. 2018 Sep;89(9):955-961. doi: 10.1136/jnnp-2017-317793. Epub 2018 Feb 27.

31.

Plasma tau is increased in frontotemporal dementia.

Foiani MS, Woollacott IO, Heller C, Bocchetta M, Heslegrave A, Dick KM, Russell LL, Marshall CR, Mead S, Schott JM, Fox NC, Warren JD, Zetterberg H, Rohrer JD.

J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):804-807. doi: 10.1136/jnnp-2017-317260. Epub 2018 Feb 13.

32.

Sense and antisense RNA are not toxic in Drosophila models of C9orf72-associated ALS/FTD.

Moens TG, Mizielinska S, Niccoli T, Mitchell JS, Thoeng A, Ridler CE, Grönke S, Esser J, Heslegrave A, Zetterberg H, Partridge L, Isaacs AM.

Acta Neuropathol. 2018 Mar;135(3):445-457. doi: 10.1007/s00401-017-1798-3. Epub 2018 Jan 29.

33.

G-quadruplex-binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo.

Simone R, Balendra R, Moens TG, Preza E, Wilson KM, Heslegrave A, Woodling NS, Niccoli T, Gilbert-Jaramillo J, Abdelkarim S, Clayton EL, Clarke M, Konrad MT, Nicoll AJ, Mitchell JS, Calvo A, Chio A, Houlden H, Polke JM, Ismail MA, Stephens CE, Vo T, Farahat AA, Wilson WD, Boykin DW, Zetterberg H, Partridge L, Wray S, Parkinson G, Neidle S, Patani R, Fratta P, Isaacs AM.

EMBO Mol Med. 2018 Jan;10(1):22-31. doi: 10.15252/emmm.201707850.

34.

Effect of Spinal Manometers on Cerebrospinal Fluid Amyloid-β Concentration.

Toombs J, Foiani MS, Paterson RW, Heslegrave A, Wray S, Schott JM, Fox NC, Lunn MP, Blennow K, Zetterberg H.

J Alzheimers Dis. 2017;56(3):885-891. doi: 10.3233/JAD-161126.

PMID:
28059797
35.

A targeted proteomic multiplex CSF assay identifies increased malate dehydrogenase and other neurodegenerative biomarkers in individuals with Alzheimer's disease pathology.

Paterson RW, Heywood WE, Heslegrave AJ, Magdalinou NK, Andreasson U, Sirka E, Bliss E, Slattery CF, Toombs J, Svensson J, Johansson P, Fox NC, Zetterberg H, Mills K, Schott JM.

Transl Psychiatry. 2016 Nov 15;6(11):e952. doi: 10.1038/tp.2016.194.

36.

Combined tissue and fluid proteomics with Tandem Mass Tags to identify low-abundance protein biomarkers of disease in peripheral body fluid: An Alzheimer's Disease case study.

Russell CL, Heslegrave A, Mitra V, Zetterberg H, Pocock JM, Ward MA, Pike I.

Rapid Commun Mass Spectrom. 2017 Jan 30;31(2):153-159. doi: 10.1002/rcm.7777.

PMID:
27813239
37.

Blood Biomarkers for Alzheimer's Disease: Much Promise, Cautious Progress.

Keshavan A, Heslegrave A, Zetterberg H, Schott JM.

Mol Diagn Ther. 2017 Feb;21(1):13-22. doi: 10.1007/s40291-016-0241-0. Review.

PMID:
27738910
38.

Do cerebrospinal fluid transfer methods affect measured amyloid β42, total tau, and phosphorylated tau in clinical practice?

Paterson RW, Toombs J, Chapman MD, Nicholas JM, Heslegrave AJ, Slattery CF, Foulkes AJ, Clark CN, Lane CA, Weston PS, Lunn MP, Fox NC, Zetterberg H, Schott JM.

Alzheimers Dement (Amst). 2015 Jul 2;1(3):380-4. doi: 10.1016/j.dadm.2015.06.003. eCollection 2015 Sep.

39.

Erratum to: Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay.

Heywood WE, Galimberti D, Bliss E, Sirka E, Paterson RW, Magdalinou NK, Carecchio M, Reid E, Heslegrave A, Fenoglio C, Scarpini E, Schott JM, Fox NC, Hardy J, Bhatia KP, Heales S, Sebire NJ, Zetterberg H, Mills K.

Mol Neurodegener. 2016 Feb 23;11:20. doi: 10.1186/s13024-016-0086-3. No abstract available.

40.

Soluble TREM-2 in cerebrospinal fluid from patients with multiple sclerosis treated with natalizumab or mitoxantrone.

Öhrfelt A, Axelsson M, Malmeström C, Novakova L, Heslegrave A, Blennow K, Lycke J, Zetterberg H.

Mult Scler. 2016 Oct;22(12):1587-1595. Epub 2016 Jan 11.

PMID:
26754805
41.

Increased cerebrospinal fluid soluble TREM2 concentration in Alzheimer's disease.

Heslegrave A, Heywood W, Paterson R, Magdalinou N, Svensson J, Johansson P, Öhrfelt A, Blennow K, Hardy J, Schott J, Mills K, Zetterberg H.

Mol Neurodegener. 2016 Jan 12;11:3. doi: 10.1186/s13024-016-0071-x.

42.

Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay.

Heywood WE, Galimberti D, Bliss E, Sirka E, Paterson RW, Magdalinou NK, Carecchio M, Reid E, Heslegrave A, Fenoglio C, Scarpini E, Schott JM, Fox NC, Hardy J, Bhatia K, Heales S, Sebire NJ, Zetterberg H, Mills K.

Mol Neurodegener. 2015 Dec 1;10:64. doi: 10.1186/s13024-015-0059-y. Erratum in: Mol Neurodegener. 2016;11:20. Bahtia, Kailash and Zetterburg, Henrik [Corrected to Bhatia, Kailash and Zetterberg, Henrik].

43.

Genetic Variants and Related Biomarkers in Sporadic Alzheimer's Disease.

Guerreiro R, Bras J, Toombs J, Heslegrave A, Hardy J, Zetterberg H.

Curr Genet Med Rep. 2015;3:19-25. Review.

44.

Novel insights into fatty acid oxidation, amino acid metabolism, and insulin secretion from studying patients with loss of function mutations in 3-hydroxyacyl-CoA dehydrogenase.

Heslegrave AJ, Hussain K.

J Clin Endocrinol Metab. 2013 Feb;98(2):496-501. doi: 10.1210/jc.2012-3134. Epub 2012 Dec 18. Review.

PMID:
23253615
45.

Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase.

Heslegrave AJ, Kapoor RR, Eaton S, Chadefaux B, Akcay T, Simsek E, Flanagan SE, Ellard S, Hussain K.

Orphanet J Rare Dis. 2012 May 14;7:25. doi: 10.1186/1750-1172-7-25.

46.

Deletion of Lkb1 in pro-opiomelanocortin neurons impairs peripheral glucose homeostasis in mice.

Claret M, Smith MA, Knauf C, Al-Qassab H, Woods A, Heslegrave A, Piipari K, Emmanuel JJ, Colom A, Valet P, Cani PD, Begum G, White A, Mucket P, Peters M, Mizuno K, Batterham RL, Giese KP, Ashworth A, Burcelin R, Ashford ML, Carling D, Withers DJ.

Diabetes. 2011 Mar;60(3):735-45. doi: 10.2337/db10-1055. Epub 2011 Jan 24.

47.

LKB1 is required for hepatic bile acid transport and canalicular membrane integrity in mice.

Woods A, Heslegrave AJ, Muckett PJ, Levene AP, Clements M, Mobberley M, Ryder TA, Abu-Hayyeh S, Williamson C, Goldin RD, Ashworth A, Withers DJ, Carling D.

Biochem J. 2011 Feb 15;434(1):49-60. doi: 10.1042/BJ20101721.

48.

Congenital hyperinsulinism due to mutations in HNF4A and HADH.

Kapoor RR, Heslegrave A, Hussain K.

Rev Endocr Metab Disord. 2010 Sep;11(3):185-91. doi: 10.1007/s11154-010-9148-y. Review.

PMID:
20931292
49.

Activation of AMP-activated protein kinase by vascular endothelial growth factor mediates endothelial angiogenesis independently of nitric-oxide synthase.

Stahmann N, Woods A, Spengler K, Heslegrave A, Bauer R, Krause S, Viollet B, Carling D, Heller R.

J Biol Chem. 2010 Apr 2;285(14):10638-52. doi: 10.1074/jbc.M110.108688. Epub 2010 Feb 3.

50.

Nitric oxide-dependent damage to neuronal mitochondria involves the NMDA receptor.

Stewart VC, Heslegrave AJ, Brown GC, Clark JB, Heales SJ.

Eur J Neurosci. 2002 Feb;15(3):458-64.

PMID:
11876773

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