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Page 1
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofz… See abstract for full author list ➔ Pelletier F, et al. Among authors: dolan g. J Clin Endocrinol Metab. 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700. J Clin Endocrinol Metab. 2021. PMID: 33005949 Free PMC article.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
The value-based healthcare approach to haemophilia: Development of outcome measures for the evaluation of care of people with haemophilia.
Cortesi PA, Fornari C, Conti S, Pollio B, Boccalandro E, Buzzi A, Carulli C, Coppola A, De Cristofaro R, Di Minno MND, Dolan G, Ferri Grazzi E, Fornari A, Gualtierotti R, Hermans C, Jiménez-Juste V, Kenet G, Lupi A, Martinoli C, Mansueto MF, Nicolò G, Tagliaferri A, Gringeri A, Molinari AC, Mantovani LG, Castaman G; V.B.H. project group. Cortesi PA, et al. Among authors: dolan g. Haemophilia. 2024 Mar;30(2):437-448. doi: 10.1111/hae.14943. Epub 2024 Feb 5. Haemophilia. 2024. PMID: 38314918
Expert United Kingdom consensus on the preservation of joint health in people with moderate and severe haemophilia A: A modified Delphi panel.
Laffan M, McLaughlin P, Motwani J, Alamelu J, Austin S, Classey S, Dolan G, Eales M, Gooding R, Grainger J, Harrison C, Jones A, Kelly AM, Oyesiku L, Rodgers R, Stephensen D, Talks K, Sonecha S, Danquah A. Laffan M, et al. Among authors: dolan g. Haemophilia. 2024 Mar;30(2):306-319. doi: 10.1111/hae.14934. Epub 2024 Jan 19. Haemophilia. 2024. PMID: 38239180
Prevalence of COVID-19 related hospitalizations and mortality in adults aged ≥40 years with haemophilia: A survey from Europe.
Hermans C, Astermark J, Carvalho M, Dolan G, d'Oiron R, Fontana P, Holme PA, Kenet G, Klamroth R, Mancuso ME, Marquardt N, Nunez R, Katsarou O, Pabinger-Fasching I, Quintavalle G, Rodgers R, van der Valk P, Windyga J, Jimenez Yuste V, Preložnik Zupan I. Hermans C, et al. Among authors: dolan g. Haemophilia. 2023 May;29(3):913-916. doi: 10.1111/hae.14761. Epub 2023 Feb 18. Haemophilia. 2023. PMID: 36802089 No abstract available.
Applicability of the European Society of Cardiology Guidelines on the management of acute coronary syndromes to older people with haemophilia A - A modified Delphi consensus by the ADVANCE Working Group.
Klamroth R, Ay C, De Moerloose P, Fontana P, Windyga J, Astermark J, Berntorp E, Carvalho M, Dolan G, Hermans C, Holme PA, Kenet G, Mancuso ME, Marquardt N, Nunez R, Pabinger I, Rodgers R, Valk PV, Yuste VJ, Zupan IP. Klamroth R, et al. Among authors: dolan g. Haemophilia. 2023 Jan;29(1):21-32. doi: 10.1111/hae.14674. Epub 2022 Oct 21. Haemophilia. 2023. PMID: 36271497 Review.
251 results