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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: lynch t. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. Brain. 2020. PMID: 33150406 Free PMC article.
UCHL-1 is not a Parkinson's disease susceptibility gene.
Healy DG, Abou-Sleiman PM, Casas JP, Ahmadi KR, Lynch T, Gandhi S, Muqit MM, Foltynie T, Barker R, Bhatia KP, Quinn NP, Lees AJ, Gibson JM, Holton JL, Revesz T, Goldstein DB, Wood NW. Healy DG, et al. Among authors: lynch t. Ann Neurol. 2006 Apr;59(4):627-33. doi: 10.1002/ana.20757. Ann Neurol. 2006. PMID: 16450370
SGCE mutations cause psychiatric disorders: clinical and genetic characterization.
Peall KJ, Smith DJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine P, Bajaj N, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR. Peall KJ, et al. Among authors: lynch b, lynch t. Brain. 2013 Jan;136(Pt 1):294-303. doi: 10.1093/brain/aws308. Brain. 2013. PMID: 23365103 Free PMC article.
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF. Pfeffer G, et al. Among authors: lynch t. Brain. 2014 May;137(Pt 5):1323-36. doi: 10.1093/brain/awu060. Epub 2014 Apr 10. Brain. 2014. PMID: 24727571 Free PMC article.
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.
Peall KJ, Kurian MA, Wardle M, Waite AJ, Hedderly T, Lin JP, Smith M, Whone A, Pall H, White C, Lux A, Jardine PE, Lynch B, Kirov G, O'Riordan S, Samuel M, Lynch T, King MD, Chinnery PF, Warner TT, Blake DJ, Owen MJ, Morris HR. Peall KJ, et al. Among authors: lynch b, lynch t. J Neurol. 2014 Dec;261(12):2296-304. doi: 10.1007/s00415-014-7488-3. Epub 2014 Sep 11. J Neurol. 2014. PMID: 25209853 Free PMC article.
Superficial siderosis and dural ectasia: A case report.
O'Hare M, Fearon C, Kavanagh EC, Murray B, Lynch T. O'Hare M, et al. Among authors: lynch t. Neurology. 2016 Oct 18;87(16):1743-1744. doi: 10.1212/WNL.0000000000003233. Neurology. 2016. PMID: 27754910 Free PMC article. No abstract available.
The Movement disorder associated with NMDAR antibody-encephalitis is complex and characteristic: an expert video-rating study.
Varley JA, Webb AJS, Balint B, Fung VSC, Sethi KD, Tijssen MAJ, Lynch T, Mohammad SS, Britton F, Evans M, Hacohen Y, Lin JP, Nardocci N, Granata T, Dale RC, Lim MJ, Bhatia KP, Lang AE, Irani SR. Varley JA, et al. Among authors: lynch t. J Neurol Neurosurg Psychiatry. 2019 Jun;90(6):724-726. doi: 10.1136/jnnp-2018-318584. Epub 2018 Jul 21. J Neurol Neurosurg Psychiatry. 2019. PMID: 30032119 Free PMC article. No abstract available.
Soft signs in movement disorders: friends or foes?
Fearon C, Espay AJ, Lang AE, Lynch T, Martino D, Morgante F, Quinn NP, Vidailhet M, Fasano A. Fearon C, et al. Among authors: lynch t. J Neurol Neurosurg Psychiatry. 2019 Aug;90(8):961-962. doi: 10.1136/jnnp-2018-318455. Epub 2018 Nov 8. J Neurol Neurosurg Psychiatry. 2019. PMID: 30409889 No abstract available.
1,549 results