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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: foiani m. 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.
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. Zeitlberger AM, et al. Among authors: foiani m. Front Cell Neurosci. 2018 Oct 30;12:366. doi: 10.3389/fncel.2018.00366. eCollection 2018. Front Cell Neurosci. 2018. PMID: 30425621 Free PMC article.
Cerebrospinal fluid metallomics in cerebral amyloid angiopathy: an exploratory analysis.
Banerjee G, Forsgard N, Ambler G, Keshavan A, Paterson RW, Foiani MS, Toombs J, Heslegrave A, Thompson EJ, Lunn MP, Fox NC, Zetterberg H, Schott JM, Werring DJ. Banerjee G, et al. Among authors: foiani ms. J Neurol. 2022 Mar;269(3):1470-1475. doi: 10.1007/s00415-021-10711-6. Epub 2021 Jul 22. J Neurol. 2022. PMID: 34292397 Free PMC article.
Plasma glial fibrillary acidic protein and neurofilament light chain are measures of disease severity in semantic variant primary progressive aphasia.
Heller C, Chan E, Foiani MS, Todd E, Russell LL, Greaves CV, Heslegrave AJ, Warren JD, Zetterberg H, Bocchetta M, Rohrer JD. Heller C, et al. Among authors: foiani ms. J Neurol Neurosurg Psychiatry. 2020 Nov 20:jnnp-2020-325085. doi: 10.1136/jnnp-2020-325085. Online ahead of print. J Neurol Neurosurg Psychiatry. 2020. PMID: 33219041 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. 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.
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. Lombardi V, et al. Among authors: foiani m. Neurology. 2019 Mar 12;92(11):e1205-e1211. doi: 10.1212/WNL.0000000000007097. Epub 2019 Feb 20. Neurology. 2019. PMID: 30787165 Free PMC article.
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. Lashley T, et al. Among authors: foiani m. Dis Model Mech. 2018 May 8;11(5):dmm031781. doi: 10.1242/dmm.031781. Dis Model Mech. 2018. PMID: 29739861 Free PMC article. Review.
160 results