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Year Number of Results
2012 1
2014 4
2015 2
2016 5
2017 1
2018 2
2019 2
2020 3
2021 3
2022 3
2023 4
2024 5

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32 results

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Page 1
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.
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. Review.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V; Deciphering Developmental Disorders Study; Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG; Genomics England Research Consortium; Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H; NIHR BioResource; Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M; Undiagnosed Diseases Network; Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D, Znacz… See abstract for full author list ➔ Cif L, et al. Among authors: de gusmao cm. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. Brain. 2020. PMID: 33150406 Free PMC article.
Inherited and Acquired Choreas.
de Gusmao CM, Waugh JL. de Gusmao CM, et al. Semin Pediatr Neurol. 2018 Apr;25:42-53. doi: 10.1016/j.spen.2018.01.002. Epub 2018 Feb 23. Semin Pediatr Neurol. 2018. PMID: 29735116 Review.
Paroxysmal Genetic Movement Disorders and Epilepsy.
de Gusmão CM, Garcia L, Mikati MA, Su S, Silveira-Moriyama L. de Gusmão CM, et al. Front Neurol. 2021 Mar 23;12:648031. doi: 10.3389/fneur.2021.648031. eCollection 2021. Front Neurol. 2021. PMID: 33833732 Free PMC article. Review.
Transition From Pediatric to Adult Neurologic Care.
Tilton AH, de Gusmao CM. Tilton AH, et al. Among authors: de gusmao cm. Continuum (Minneap Minn). 2018 Feb;24(1, Child Neurology):276-287. doi: 10.1212/CON.0000000000000570. Continuum (Minneap Minn). 2018. PMID: 29432247 Review.
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.
Case 20-2021: A 69-Year-Old Man with Ataxia.
Khurana V, de Gusmao CM, Glover M, Helgager J. Khurana V, et al. Among authors: de gusmao cm. N Engl J Med. 2021 Jul 8;385(2):165-175. doi: 10.1056/NEJMcpc2004992. N Engl J Med. 2021. PMID: 34233100 No abstract available.
Kinesigenic Triggers in Episodic Ataxia Type 1.
de Gusmao CM, Garcia LR, Jesuthasan A, Muir M, Paciorkowski A, Mink JW, Silveira-Moriyama L. de Gusmao CM, et al. Mov Disord Clin Pract. 2020 Jul 19;7(6):723-724. doi: 10.1002/mdc3.13008. eCollection 2020 Aug. Mov Disord Clin Pract. 2020. PMID: 32775529 Free PMC article. No abstract available.
32 results