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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. Chelban V, et al. Among authors: heslegrave a. Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1. Ann Neurol. 2019. PMID: 31187503 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.
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. Foiani MS, et al. Among authors: heslegrave a. J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):804-807. doi: 10.1136/jnnp-2017-317260. Epub 2018 Feb 13. J Neurol Neurosurg Psychiatry. 2018. PMID: 29440230 Free PMC article.
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. Thompson AGB, et al. J Neurol Neurosurg Psychiatry. 2018 Sep;89(9):955-961. doi: 10.1136/jnnp-2017-317793. Epub 2018 Feb 27. J Neurol Neurosurg Psychiatry. 2018. PMID: 29487167 Free PMC article.
150 results