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Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
Murphy LB, Schreiber-Katz O, Rafferty K, Robertson A, Topf A, Willis TA, Heidemann M, Thiele S, Bindoff L, Laurent JP, Lochmüller H, Mathews K, Mitchell C, Stevenson JH, Vissing J, Woods L, Walter MC, Straub V. Murphy LB, et al. Among authors: robertson a. Ann Clin Transl Neurol. 2020 May;7(5):757-766. doi: 10.1002/acn3.51042. Epub 2020 Apr 28. Ann Clin Transl Neurol. 2020. PMID: 32342672 Free PMC article.
A multi-source approach to determine SMA incidence and research ready population.
Verhaart IEC, Robertson A, Leary R, McMacken G, König K, Kirschner J, Jones CC, Cook SF, Lochmüller H. Verhaart IEC, et al. Among authors: robertson a. J Neurol. 2017 Jul;264(7):1465-1473. doi: 10.1007/s00415-017-8549-1. Epub 2017 Jun 20. J Neurol. 2017. PMID: 28634652 Free PMC article.
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development.
Heslop E, Csimma C, Straub V, McCall J, Nagaraju K, Wagner KR, Caizergues D, Korinthenberg R, Flanigan KM, Kaufmann P, McNeil E, Mendell J, Hesterlee S, Wells DJ, Bushby K; TACT. Heslop E, et al. Orphanet J Rare Dis. 2015 Apr 23;10:49. doi: 10.1186/s13023-015-0258-1. Orphanet J Rare Dis. 2015. PMID: 25902795 Free PMC article. Review.
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.
Sernadela P, González-Castro L, Carta C, van der Horst E, Lopes P, Kaliyaperumal R, Thompson M, Thompson R, Queralt-Rosinach N, Lopez E, Wood L, Robertson A, Lamanna C, Gilling M, Orth M, Merino-Martinez R, Posada M, Taruscio D, Lochmüller H, Robinson P, Roos M, Oliveira JL. Sernadela P, et al. Among authors: robertson a. Biomed Res Int. 2017;2017:8327980. doi: 10.1155/2017/8327980. Epub 2017 Oct 29. Biomed Res Int. 2017. PMID: 29214177 Free PMC article.
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services.
Best S, Fehlberg Z, Richards C, Quinn MCJ, Lunke S, Spurdle AB, Kassahn KS, Patel C, Vears DF, Goranitis I, Lynch F, Robertson A, Tudini E, Christodoulou J, Scott H, McGaughran J, Stark Z. Best S, et al. Among authors: robertson a. Eur J Hum Genet. 2024 May 25. doi: 10.1038/s41431-024-01633-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38796577
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA; Undiagnosed Diseases Network; Liu B, Majer O, Barton GM. Rael VE, et al. J Exp Med. 2024 Aug 5;221(8):e20232005. doi: 10.1084/jem.20232005. Epub 2024 May 23. J Exp Med. 2024. PMID: 38780621 Free PMC article.
3,243 results