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Year Number of Results
2012 1
2014 4
2015 2
2016 4
2017 1
2018 2
2019 2
2020 3
2021 2
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20 results
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Page 1
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, Znaczko A, Dale RC, de Gusmão CM, Friedman J, Fung VSC, King MD, Mohammad SS, Rohena L, Waugh JL, Toro C, Raymond FL, Topf M, Coubes P, Gorman KM, Kurian MA. 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
Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort.
Aboud Syriani D, Wong D, Andani S, De Gusmao CM, Mao Y, Sanyoura M, Glotzer G, Lockhart PJ, Hassin-Baer S, Khurana V, Gomez CM, Perlman S, Das S, Fogel BL. Aboud Syriani D, et al. Among authors: de gusmao cm. Neurol Genet. 2020 May 20;6(3):e440. doi: 10.1212/NXG.0000000000000440. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32582864 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.
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 No abstract available.
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.
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