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78 results

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Page 1
Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.
Torra R, Lipska-Ziętkiewicz B, Acke F, Antignac C, Becker JU, Gall EC, van Eerde AM, Feltgen N, Ferrari R, Gale DP, Gross O, Haeberle S, Wlodkowski T, Heidet L, Lennon R, Massella L, Topaloglu R, Pfau K, Del Prado Venegas Pizarro M, Zealey H; ERKNet, ERA Genes&Kidney and ESPN WG Hereditary Kidney Disorders groups. Torra R, et al. Nephrol Dial Transplant. 2024 Dec 2:gfae265. doi: 10.1093/ndt/gfae265. Online ahead of print. Nephrol Dial Transplant. 2024. PMID: 39673454
Corneal Biomechanical Changes in Patients with Inherited Retinal Diseases.
Marta A, Ferreira A, Couto I, Neves MM, Gomes M, Oliveira L, Azevedo Soares C, Menéres MJ, Lemos C, Melo Beirão J. Marta A, et al. Clin Ophthalmol. 2024 Sep 19;18:2611-2618. doi: 10.2147/OPTH.S478846. eCollection 2024. Clin Ophthalmol. 2024. PMID: 39318485 Free PMC article.
Current management of inherited retinal degenerations in Portugal (IRD-PT survey).
Marques JP, Ferreira N, Moreno N, Marta A, Vaz-Pereira S, Estrela-Silva S, Costa J, Cardoso AR, Neves P, Duarte L, Meira D, Pires J, Menezes C, Rodrigues F, Arede P, Coutinho A, Cabral D, Coutinho I, Ribeiro M, Macedo M, Brito S, Isidro F, Rodrigues FG, Sousa JPC, Marques M, Martins R, Silva E. Marques JP, et al. Among authors: marta a. Sci Rep. 2024 Sep 14;14(1):21473. doi: 10.1038/s41598-024-72589-4. Sci Rep. 2024. PMID: 39277603 Free PMC article.
Brain MRI in patients with V30M hereditary transthyretin amyloidosis.
Sousa L, Pinto C, Azevedo A, Igreja L, Marta A, Fernandes J, Oliveira P, Cardoso M, Alves C, Silva AMD, Mendonça Pinto M, Sousa AP, Coelho T, Taipa R. Sousa L, et al. Among authors: marta a. Amyloid. 2024 Dec;31(4):285-290. doi: 10.1080/13506129.2024.2391842. Epub 2024 Aug 17. Amyloid. 2024. PMID: 39153196
The socioeconomic epidemiology of inherited retinal diseases in Portugal.
Marta A, Marques JP, Santos C, Coutinho-Santos L, Vaz-Pereira S, Costa J, Arede P, Félix R, Geada S, Gouveia N, Silva R, Baptista M, Lume M, Parreira R, Azevedo Soares C, Menéres MJ, Lemos C, Melo Beirão J. Marta A, et al. Orphanet J Rare Dis. 2024 Apr 9;19(1):151. doi: 10.1186/s13023-024-03161-6. Orphanet J Rare Dis. 2024. PMID: 38594754 Free PMC article.
Differential CpG methylation at Nnat in the early establishment of beta cell heterogeneity.
Yu V, Yong F, Marta A, Khadayate S, Osakwe A, Bhattacharya S, Varghese SS, Chabosseau P, Tabibi SM, Chen K, Georgiadou E, Parveen N, Suleiman M, Stamoulis Z, Marselli L, De Luca C, Tesi M, Ostinelli G, Delgadillo-Silva L, Wu X, Hatanaka Y, Montoya A, Elliott J, Patel B, Demchenko N, Whilding C, Hajkova P, Shliaha P, Kramer H, Ali Y, Marchetti P, Sladek R, Dhawan S, Withers DJ, Rutter GA, Millership SJ. Yu V, et al. Among authors: marta a. Diabetologia. 2024 Jun;67(6):1079-1094. doi: 10.1007/s00125-024-06123-6. Epub 2024 Mar 21. Diabetologia. 2024. PMID: 38512414 Free PMC article.
78 results