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117 results

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Page 1
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Manzoni E, Carli S, Gaignard P, Schlieben LD, Hirano M, Ronchi D, Gonzales E, Shimura M, Murayama K, Okazaki Y, Barić I, Petkovic Ramadza D, Karall D, Mayr J, Martinelli D, La Morgia C, Primiano G, Santer R, Servidei S, Bris C, Cano A, Furlan F, Gasperini S, Laborde N, Lamperti C, Lenz D, Mancuso M, Montano V, Menni F, Musumeci O, Nesbitt V, Procopio E, Rouzier C, Staufner C, Taanman JW, Tal G, Ticci C, Cordelli DM, Carelli V, Procaccio V, Prokisch H, Garone C. Manzoni E, et al. Among authors: taanman jw. Brain Commun. 2024 May 6;6(3):fcae160. doi: 10.1093/braincomms/fcae160. eCollection 2024. Brain Commun. 2024. PMID: 38756539 Free PMC article.
Exploring metabolism in scleroderma reveals opportunities for pharmacological intervention for therapy in fibrosis.
Cantanhede IG, Liu H, Liu H, Balbuena Rodriguez V, Shiwen X, Ong VH, Denton CP, Ponticos M, Xiong G, Lima-Filho JL, Abraham D, Abu-Hanna J, Taanman JW. Cantanhede IG, et al. Among authors: taanman jw. Front Immunol. 2022 Oct 11;13:1004949. doi: 10.3389/fimmu.2022.1004949. eCollection 2022. Front Immunol. 2022. PMID: 36304460 Free PMC article.
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: taanman jw. Brain. 2024 Aug 30:awae268. doi: 10.1093/brain/awae268. Online ahead of print. Brain. 2024. PMID: 39279645
Exploring the impact of the PNPLA3 I148M variant on primary human hepatic stellate cells using 3D extracellular matrix models.
Caon E, Martins M, Hodgetts H, Blanken L, Vilia MG, Levi A, Thanapirom K, Al-Akkad W, Abu-Hanna J, Baselli G, Hall AR, Luong TV, Taanman JW, Vacca M, Valenti L, Romeo S, Mazza G, Pinzani M, Rombouts K. Caon E, et al. Among authors: taanman jw. J Hepatol. 2024 Jun;80(6):941-956. doi: 10.1016/j.jhep.2024.01.032. Epub 2024 Feb 15. J Hepatol. 2024. PMID: 38365182 Free article.
117 results