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Humoral response to neurofilaments and dipeptide repeats in ALS progression.
Puentes F, Lombardi V, Lu CH, Yildiz O, Fratta P, Isaacs A, Bobeva Y, Wuu J; ALS Biomarker Consortium; CReATe Consortium; Benatar M, Malaspina A. Puentes F, et al. Ann Clin Transl Neurol. 2021 Sep;8(9):1831-1844. doi: 10.1002/acn3.51428. Epub 2021 Jul 27. Ann Clin Transl Neurol. 2021. PMID: 34318620 Free PMC article.
A multicenter study to evaluate pain characteristics in osteogenesis imperfecta.
Rodriguez Celin M, Kruger KM, Caudill A, Murali CN, Nagamani SCS; Members of the Brittle Bone Disorders Consortium (BBDC); Smith PA, Harris GF. Rodriguez Celin M, et al. Am J Med Genet A. 2023 Jan;191(1):160-172. doi: 10.1002/ajmg.a.63009. Epub 2022 Oct 22. Am J Med Genet A. 2023. PMID: 36271817 Free PMC article.
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S; Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases Consortia Study Group. Posset R, et al. Ann Neurol. 2019 Jul;86(1):116-128. doi: 10.1002/ana.25492. Epub 2019 May 13. Ann Neurol. 2019. PMID: 31018246 Free PMC article.
Using PROMIS® to create clinically meaningful profiles of nephrotic syndrome patients.
Troost JP, Gipson DS, Carlozzi NE, Reeve BB, Nachman PH, Gbadegesin R, Wang J, Modersitzki F, Massengill S, Mahan JD, Liu Y, Trachtman H, Herreshoff EG, DeWalt DA, Selewski DT. Troost JP, et al. Health Psychol. 2019 May;38(5):410-421. doi: 10.1037/hea0000679. Health Psychol. 2019. PMID: 31045424 Free PMC article.
Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study.
Tosi LL, Floor MK, Dollar CM, Gillies AP; Members of the Brittle Bone Disease Consortium; Hart TS, Cuthbertson DD, Sutton VR, Krischer JP. Tosi LL, et al. Orphanet J Rare Dis. 2019 Jan 29;14(1):23. doi: 10.1186/s13023-019-1004-x. Orphanet J Rare Dis. 2019. PMID: 30696467 Free PMC article.