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A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia.
Fields T, Patterson M, Bremova-Ertl T, Belcher G, Billington I, Churchill GC, Davis W, Evans W, Flint S, Galione A, Granzer U, Greenfield J, Karl R, Kay R, Lewi D, Mathieson T, Meyer T, Pangonis D, Platt FM, Tsang L, Verburg C, Factor M, Strupp M. Fields T, et al. Among authors: mathieson t. Trials. 2021 Jan 22;22(1):84. doi: 10.1186/s13063-020-05009-3. Trials. 2021. PMID: 33482890 Free PMC article.
Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective.
Mengel E, Patterson MC, Chladek M, Guldberg C, Í Dali C, Symonds T, Lloyd-Price L, Mathieson T, Crowe J, Burbridge C. Mengel E, et al. Among authors: mathieson t. Orphanet J Rare Dis. 2021 Nov 24;16(1):493. doi: 10.1186/s13023-021-02105-8. Orphanet J Rare Dis. 2021. PMID: 34819124 Free PMC article.
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Bolton SC, Soran V, Marfa MP, Imrie J, Gissen P, Jahnova H, Sharma R, Jones S, Santra S, Crushell E, Stampfer M, Coll MJ, Dawson C, Mathieson T, Green J, Dardis A, Bembi B, Patterson MC, Vanier MT, Geberhiwot T. Bolton SC, et al. Among authors: mathieson t. Orphanet J Rare Dis. 2022 Feb 14;17(1):51. doi: 10.1186/s13023-022-02200-4. Orphanet J Rare Dis. 2022. PMID: 35164809 Free PMC article.
36 results