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211 results

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Page 1
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.
Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren JD, Collinge J, Mead S. Beck J, et al. Among authors: malaspina a. Am J Hum Genet. 2013 Mar 7;92(3):345-53. doi: 10.1016/j.ajhg.2013.01.011. Epub 2013 Feb 21. Am J Hum Genet. 2013. PMID: 23434116 Free PMC article.
Plasma neurofilament heavy chain levels and disease progression in amyotrophic lateral sclerosis: insights from a longitudinal study.
Lu CH, Petzold A, Topping J, Allen K, Macdonald-Wallis C, Clarke J, Pearce N, Kuhle J, Giovannoni G, Fratta P, Sidle K, Fish M, Orrell R, Howard R, Greensmith L, Malaspina A. Lu CH, et al. Among authors: malaspina a. J Neurol Neurosurg Psychiatry. 2015 May;86(5):565-73. doi: 10.1136/jnnp-2014-307672. Epub 2014 Jul 9. J Neurol Neurosurg Psychiatry. 2015. PMID: 25009280 Free PMC article.
Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis.
Lu CH, Macdonald-Wallis C, Gray E, Pearce N, Petzold A, Norgren N, Giovannoni G, Fratta P, Sidle K, Fish M, Orrell R, Howard R, Talbot K, Greensmith L, Kuhle J, Turner MR, Malaspina A. Lu CH, et al. Among authors: malaspina a. Neurology. 2015 Jun 2;84(22):2247-57. doi: 10.1212/WNL.0000000000001642. Epub 2015 May 1. Neurology. 2015. PMID: 25934855 Free PMC article.
CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.
Abdelkarim S, Morgan S, Plagnol V, Lu CH, Adamson G, Howard R, Malaspina A, Orrell R, Sharma N, Sidle K, Clarke J, Fox NC, Rossor MN, Warren JD, Clark CN, Rohrer JD, Fisher EM, Mead S, Pittman A, Fratta P. Abdelkarim S, et al. Among authors: malaspina a. Brain. 2016 Feb;139(Pt 2):e9. doi: 10.1093/brain/awv223. Epub 2015 Sep 11. Brain. 2016. PMID: 26362910 Free PMC article. No abstract available.
Systemic inflammatory response and neuromuscular involvement in amyotrophic lateral sclerosis.
Lu CH, Allen K, Oei F, Leoni E, Kuhle J, Tree T, Fratta P, Sharma N, Sidle K, Howard R, Orrell R, Fish M, Greensmith L, Pearce N, Gallo V, Malaspina A. Lu CH, et al. Among authors: malaspina a. Neurol Neuroimmunol Neuroinflamm. 2016 Jun 1;3(4):e244. doi: 10.1212/NXI.0000000000000244. eCollection 2016 Aug. Neurol Neuroimmunol Neuroinflamm. 2016. PMID: 27308305 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: malaspina a. Neurology. 2019 Mar 12;92(11):e1205-e1211. doi: 10.1212/WNL.0000000000007097. Epub 2019 Feb 20. Neurology. 2019. PMID: 30787165 Free PMC article.
Plasma pNfH levels differentiate SBMA from ALS.
Lombardi V, Bombaci A, Zampedri L, Lu CH, Malik B, Zetterberg H, Heslegrave AJ, Rinaldi C, Greensmith L, Hanna MG, Malaspina A, Fratta P. Lombardi V, et al. Among authors: malaspina a. J Neurol Neurosurg Psychiatry. 2020 Feb;91(2):215-217. doi: 10.1136/jnnp-2019-320624. Epub 2019 Oct 1. J Neurol Neurosurg Psychiatry. 2020. PMID: 31575607 No abstract available.
211 results