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Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.
Falabella M, Pizzamiglio C, Tabara LC, Munro B, Abdel-Hamid MS, Sonmezler E, Macken WL, Lu S, Tilokani L, Flannery PJ, Patel N, Pope SAS, Heales SJR, Hammadi DBH, Alston CL, Taylor RW, Lochmuller H, Woodward CE, Labrum R, Vandrovcova J, Houlden H, Chronopoulou E, Pierre G, Maroofian R, Hanna MG, Taanman JW, Hiz S, Oktay Y, Zaki MS, Horvath R, Prudent J, Pitceathly RDS. Falabella M, et al. Among authors: patel n. Brain. 2024 Aug 30:awae268. doi: 10.1093/brain/awae268. Online ahead of print. Brain. 2024. PMID: 39279645
Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI.
Heywood WE, Camuzeaux S, Doykov I, Patel N, Preece RL, Footitt E, Cleary M, Clayton P, Grunewald S, Abulhoul L, Chakrapani A, Sebire NJ, Hindmarsh P, de Koning TJ, Heales S, Burke D, Gissen P, Mills K. Heywood WE, et al. Among authors: patel n. Anal Chem. 2015 Dec 15;87(24):12238-44. doi: 10.1021/acs.analchem.5b03232. Epub 2015 Nov 20. Anal Chem. 2015. PMID: 26537538
Plasma proteomic signature predicts who will get persistent symptoms following SARS-CoV-2 infection.
Captur G, Moon JC, Topriceanu CC, Joy G, Swadling L, Hallqvist J, Doykov I, Patel N, Spiewak J, Baldwin T, Hamblin M, Menacho K, Fontana M, Treibel TA, Manisty C, O'Brien B, Gibbons JM, Pade C, Brooks T, Altmann DM, Boyton RJ, McKnight Á, Maini MK, Noursadeghi M, Mills K, Heywood WE; UK COVIDsortium Investigators. Captur G, et al. Among authors: patel n. EBioMedicine. 2022 Nov;85:104293. doi: 10.1016/j.ebiom.2022.104293. Epub 2022 Sep 28. EBioMedicine. 2022. PMID: 36182629 Free PMC article.
Identification of a Multiplex Biomarker Panel for Hypertrophic Cardiomyopathy Using Quantitative Proteomics and Machine Learning.
Captur G, Heywood WE, Coats C, Rosmini S, Patel V, Lopes LR, Collis R, Patel N, Syrris P, Bassett P, O'Brien B, Moon JC, Elliott PM, Mills K. Captur G, et al. Among authors: patel v, patel n. Mol Cell Proteomics. 2020 Jan;19(1):114-127. doi: 10.1074/mcp.RA119.001586. Epub 2019 Jun 26. Mol Cell Proteomics. 2020. PMID: 31243064 Free PMC article.
9,733 results