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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: roujeau t. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. Brain. 2020. PMID: 33150406 Free PMC article.
[Takotsubo cardiomyopathy in an adolescent girl].
Baleine J, Jacquot A, Novais AR, Durand S, Milesi C, de la Villéon G, Roujeau T, Cambonie G. Baleine J, et al. Among authors: roujeau t. Arch Pediatr. 2014 May;21(5):510-3. doi: 10.1016/j.arcped.2014.02.014. Epub 2014 Mar 31. Arch Pediatr. 2014. PMID: 24698223 French.
Deep brain stimulation treated dystonia-trajectory via status dystonicus.
Nerrant E, Gonzalez V, Milesi C, Vasques X, Ruge D, Roujeau T, De Antonio Rubio I, Cyprien F, Seng EC, Demailly D, Roubertie A, Boularan A, Greco F, Perrigault PF, Cambonie G, Coubes P, Cif L. Nerrant E, et al. Among authors: roujeau t. Mov Disord. 2018 Jul;33(7):1168-1173. doi: 10.1002/mds.27357. Epub 2018 May 22. Mov Disord. 2018. PMID: 29786895
Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.
Koy A, Cirak S, Gonzalez V, Becker K, Roujeau T, Milesi C, Baleine J, Cambonie G, Boularan A, Greco F, Perrigault PF, Cances C, Dorison N, Doummar D, Roubertie A, Beroud C, Körber F, Stüve B, Waltz S, Mignot C, Nava C, Maarouf M, Coubes P, Cif L. Koy A, et al. Among authors: roujeau t. J Neurol Sci. 2018 Aug 15;391:31-39. doi: 10.1016/j.jns.2018.05.018. Epub 2018 May 22. J Neurol Sci. 2018. PMID: 30103967
Atypical PLA2G6-Associated Neurodegeneration: Social Communication Impairment, Dystonia and Response to Deep Brain Stimulation.
Cif L, Kurian MA, Gonzalez V, Garcia-Ptacek S, Roujeau T, Gelisse P, Moura de Ribeiro AM, Crespel A, MacPherson L, Coubes P. Cif L, et al. Among authors: roujeau t. Mov Disord Clin Pract. 2014 May 23;1(2):128-131. doi: 10.1002/mdc3.12030. eCollection 2014 Jun. Mov Disord Clin Pract. 2014. PMID: 30363890 Free PMC article. No abstract available.
90 results