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Page 1
Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool.
da Silva Carvalho GF, de Gusmão CM, Wolff BM, Vieira LL, de Oliveira YG, Costa MR, da Silva Mendes R, Castro MAA, Sakuma MT, Kok F, Sadikovic B, Kulikowski LD. da Silva Carvalho GF, et al. Among authors: de gusmao cm. Clin Epigenetics. 2024 Nov 25;16(1):169. doi: 10.1186/s13148-024-01780-1. Clin Epigenetics. 2024. PMID: 39587624 Free PMC article.
Gerstmann-Sträussler-Scheinker Disease Presenting as Late-Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology.
Stephen CD, de Gusmao CM, Srinivasan SR, Olsen A, Freua F, Kok F, Montes Garcia Barbosa R, Chen JYH, Appleby BS, Prior T, Frosch MP, Schmahmann JD. Stephen CD, et al. Among authors: de gusmao cm. Mov Disord Clin Pract. 2024 Apr;11(4):411-423. doi: 10.1002/mdc3.13976. Epub 2024 Jan 23. Mov Disord Clin Pract. 2024. PMID: 38258626 Free PMC article.
Scoping Review on ADCY5-Related Movement Disorders.
Menon PJ, Nilles C, Silveira-Moriyama L, Yuan R, de Gusmao CM, Münchau A, Carecchio M, Grossman S, Grossman G, Méneret A, Roze E, Pringsheim T. Menon PJ, et al. Among authors: de gusmao cm. Mov Disord Clin Pract. 2023 Jun 6;10(7):1048-1059. doi: 10.1002/mdc3.13796. eCollection 2023 Jul. Mov Disord Clin Pract. 2023. PMID: 37476318 Free PMC article.
A framework for individualized splice-switching oligonucleotide therapy.
Kim J, Woo S, de Gusmao CM, Zhao B, Chin DH, DiDonato RL, Nguyen MA, Nakayama T, Hu CA, Soucy A, Kuniholm A, Thornton JK, Riccardi O, Friedman DA, El Achkar CM, Dash Z, Cornelissen L, Donado C, Faour KNW, Bush LW, Suslovitch V, Lentucci C, Park PJ, Lee EA, Patterson A, Philippakis AA, Margus B, Berde CB, Yu TW. Kim J, et al. Among authors: de gusmao cm. Nature. 2023 Jul;619(7971):828-836. doi: 10.1038/s41586-023-06277-0. Epub 2023 Jul 12. Nature. 2023. PMID: 37438524 Free PMC article.
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities.
Wongkittichote P, Duque Lasio ML, Magistrati M, Pathak S, Sample B, Carvalho DR, Ortega AB, Castro MAA, de Gusmao CM, Toler TL, Bellacchio E, Dallabona C, Shinawi M. Wongkittichote P, et al. Among authors: de gusmao cm. Mol Genet Metab. 2023 Aug;139(4):107630. doi: 10.1016/j.ymgme.2023.107630. Epub 2023 Jun 22. Mol Genet Metab. 2023. PMID: 37392700 Free PMC article.
Correction to: Clinical trial-ready patient cohorts for multiple system atrophy: coupling biospecimen and iPSC banking to longitudinal deep-phenotyping.
Ndayisaba A, Pitaro AT, Willett AS, Jones KA, de Gusmao CM, Olsen AL, Kim J, Rissanen E, Woods JK, Srinivasan SR, Nagy A, Nagy A, Mesidor M, Cicero S, Patel V, Oakley DH, Tuncali I, Taglieri-Noble K, Clark EC, Paulson J, Krolewski RC, Ho GP, Hung AY, Wills AM, Hayes MT, Macmore JP, Warren L, Bower PG, Langer CB, Kellerman LR, Humphreys CW, Glanz BI, Dielubanza EJ, Frosch MP, Freeman RL, Gibbons CH, Stefanova N, Chitnis T, Weiner HL, Scherzer CR, Scholz SW, Vuzman D, Cox LM, Wenning G, Schmahmann JD, Gupta AS, Novak P, Young GS, Feany MB, Singhal T, Khurana V. Ndayisaba A, et al. Among authors: de gusmao cm. Cerebellum. 2024 Feb;23(1):52-53. doi: 10.1007/s12311-022-01501-5. Cerebellum. 2024. PMID: 36456723 Free PMC article. No abstract available.
Clinical Trial-Ready Patient Cohorts for Multiple System Atrophy: Coupling Biospecimen and iPSC Banking to Longitudinal Deep-Phenotyping.
Ndayisaba A, Pitaro AT, Willett AS, Jones KA, de Gusmao CM, Olsen AL, Kim J, Rissanen E, Woods JK, Srinivasan SR, Nagy A, Nagy A, Mesidor M, Cicero S, Patel V, Oakley DH, Tuncali I, Taglieri-Noble K, Clark EC, Paulson J, Krolewski RC, Ho GP, Hung AY, Wills AM, Hayes MT, Macmore JP, Warren L, Bower PG, Langer CB, Kellerman LR, Humphreys CW, Glanz BI, Dielubanza EJ, Frosch MP, Freeman RL, Gibbons CH, Stefanova N, Chitnis T, Weiner HL, Scherzer CR, Scholz SW, Vuzman D, Cox LM, Wenning G, Schmahmann JD, Gupta AS, Novak P, Young GS, Feany MB, Singhal T, Khurana V. Ndayisaba A, et al. Among authors: de gusmao cm. Cerebellum. 2024 Feb;23(1):31-51. doi: 10.1007/s12311-022-01471-8. Epub 2022 Oct 3. Cerebellum. 2024. PMID: 36190676 Free PMC article.
33 results