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Page 1
Biomarkers in Ataxia-Telangiectasia: a Systematic Review.
Tiet MY, Guțu BI, Springall-Jeggo P, Coman D, Willemsen M, Van Os N, Doria M, Donath H, Schubert R, Dineen RA, Biagiotti S, Prayle AP, Group ATBW, Hensiek AE, Horvath R. Tiet MY, et al. J Neurol. 2025 Jan 15;272(2):110. doi: 10.1007/s00415-024-12766-7. J Neurol. 2025. PMID: 39812834 Free PMC article.
Primary mitochondrial myopathies in childhood.
Olimpio C, Tiet MY, Horvath R. Olimpio C, et al. Among authors: tiet my. Neuromuscul Disord. 2021 Oct;31(10):978-987. doi: 10.1016/j.nmd.2021.08.005. Neuromuscul Disord. 2021. PMID: 34736635 Review.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: tiet my. Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20. Genet Med. 2022. PMID: 35986737 Free article.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Downes SM, Németh AH, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: tiet my. Genet Med. 2023 Oct;25(10):100961. doi: 10.1016/j.gim.2023.100961. Epub 2023 Aug 31. Genet Med. 2023. PMID: 37650884 Free article. No abstract available.
Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia.
Di Folco C, Dubec-Fleury C, Traschütz A, Kessler C, Reich S, Gagnon C, Lessard I, Rodrigue X, Cocozza S, Satolli S, Santorelli FM, Durr A, Heinzmann A, van de Warrenburg BP, Willemse IHJ, Başak AN, Vural A, Brais B, Klebe S, Horvath R; PROSPAX Consortium; Schüle R, Synofzik M, Tezenas du Montcel S. Di Folco C, et al. Mov Disord. 2025 Nov;40(11):2476-2485. doi: 10.1002/mds.70006. Epub 2025 Aug 20. Mov Disord. 2025. PMID: 40832806 Free PMC article.
13 results