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Congenital hyperinsulinism due to mutations in HNF4A and HADH.
Kapoor RR, Heslegrave A, Hussain K. Kapoor RR, et al. Among authors: heslegrave a. Rev Endocr Metab Disord. 2010 Sep;11(3):185-91. doi: 10.1007/s11154-010-9148-y. Rev Endocr Metab Disord. 2010. PMID: 20931292 Review.
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. Claret M, et al. Among authors: heslegrave a. Diabetes. 2011 Mar;60(3):735-45. doi: 10.2337/db10-1055. Epub 2011 Jan 24. Diabetes. 2011. PMID: 21266325 Free PMC article.
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. Heywood WE, et al. Among authors: heslegrave a. Mol Neurodegener. 2016 Feb 23;11:20. doi: 10.1186/s13024-016-0086-3. Mol Neurodegener. 2016. PMID: 26907468 Free PMC article. No abstract available.
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. Simone R, et al. Among authors: heslegrave a. EMBO Mol Med. 2018 Jan;10(1):22-31. doi: 10.15252/emmm.201707850. EMBO Mol Med. 2018. PMID: 29113975 Free PMC article.
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. Roos P, et al. Among authors: heslegrave a. J Neuroimmunol. 2018 Nov 15;324:136-142. doi: 10.1016/j.jneuroim.2018.08.009. Epub 2018 Aug 17. J Neuroimmunol. 2018. PMID: 30193769
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. Moens TG, et al. Among authors: heslegrave a. Acta Neuropathol. 2018 Mar;135(3):445-457. doi: 10.1007/s00401-017-1798-3. Epub 2018 Jan 29. Acta Neuropathol. 2018. PMID: 29380049 Free PMC article.
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. Garcia-Reitboeck P, et al. Among authors: heslegrave a. Cell Rep. 2018 Aug 28;24(9):2300-2311. doi: 10.1016/j.celrep.2018.07.094. Cell Rep. 2018. PMID: 30157425 Free PMC article.
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. Kruse N, et al. Among authors: heslegrave a. Alzheimers Dement (Amst). 2018 Jul 7;10:461-470. doi: 10.1016/j.dadm.2018.06.005. eCollection 2018. Alzheimers Dement (Amst). 2018. PMID: 30294658 Free PMC article.
150 results