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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… See abstract for full author list ➔ Cif L, et al. Among authors: sharma n. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. Brain. 2020. PMID: 33150406 Free PMC article.
Pallidal deep brain stimulation for dystonia: a case series.
Petrossian MT, Paul LR, Multhaupt-Buell TJ, Eckhardt C, Hayes MT, Duhaime AC, Eskandar EN, Sharma N. Petrossian MT, et al. Among authors: sharma n. J Neurosurg Pediatr. 2013 Dec;12(6):582-7. doi: 10.3171/2013.8.PEDS13134. Epub 2013 Oct 4. J Neurosurg Pediatr. 2013. PMID: 24093589 Free PMC article.
Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias.
Waugh JL, Kuster JK, Levenstein JM, Makris N, Multhaupt-Buell TJ, Sudarsky LR, Breiter HC, Sharma N, Blood AJ. Waugh JL, et al. Among authors: sharma n. PLoS One. 2016 May 12;11(5):e0155302. doi: 10.1371/journal.pone.0155302. eCollection 2016. PLoS One. 2016. PMID: 27171035 Free PMC article.
Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.
de Gusmão CM, Fuchs T, Moses A, Multhaupt-Buell T, Song PC, Ozelius LJ, Franco RA, Sharma N. de Gusmão CM, et al. Among authors: sharma n. Otolaryngol Head Neck Surg. 2016 Oct;155(4):624-8. doi: 10.1177/0194599816648293. Epub 2016 May 17. Otolaryngol Head Neck Surg. 2016. PMID: 27188707 Free PMC article.
Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective.
Dy ME, Waugh JL, Sharma N, O'Leary H, Kapur K, D'Gama AM, Sahin M, Urion DK, Kaufmann WE. Dy ME, et al. Among authors: sharma n. Pediatr Neurol. 2017 Oct;75:91-95. doi: 10.1016/j.pediatrneurol.2017.05.025. Epub 2017 Jun 2. Pediatr Neurol. 2017. PMID: 28838622 Free PMC article. Clinical Trial.
Low CSF 5-HIAA in Myoclonus Dystonia.
Peall KJ, Ng J, Dy ME, Sharma N, Pope S, Heales S, Friedman JR, Kurian MA. Peall KJ, et al. Among authors: sharma n. Mov Disord. 2017 Nov;32(11):1647-1649. doi: 10.1002/mds.27117. Epub 2017 Sep 26. Mov Disord. 2017. PMID: 28949039 Free PMC article. No abstract available.
6,951 results