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The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Stafki SA, Turner J, Littel HR, Bruels CC, Truong D, Knirsch U, Stettner GM, Graf U, Berger W, Kinali M, Jungbluth H, Pacak CA, Hughes J, Mirchi A, Derksen A, Vincent-Delorme C, Theil AF, Bernard G, Ellis D, Fassihi H, Lehmann AR, Laugel V, Mohammed S, Kang PB. Stafki SA, et al. Among authors: lehmann ar. Pediatr Neurol. 2023 Apr;141:79-86. doi: 10.1016/j.pediatrneurol.2023.01.011. Epub 2023 Jan 24. Pediatr Neurol. 2023. PMID: 36791574 Free PMC article.
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
Garcia-Moreno H, Langbehn DR, Abiona A, Garrood I, Fleszar Z, Manes MA, Morley AMS, Craythorne E, Mohammed S, Henshaw T, Turner S, Naik H, Bodi I, Sarkany RPE, Fassihi H, Lehmann AR, Giunti P. Garcia-Moreno H, et al. Among authors: lehmann ar. Brain. 2023 Dec 1;146(12):5044-5059. doi: 10.1093/brain/awad266. Brain. 2023. PMID: 38040034 Free PMC article.
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
Botta E, Theil AF, Raams A, Caligiuri G, Giachetti S, Bione S, Accadia M, Lombardi A, Smith DEC, Mendes MI, Swagemakers SMA, van der Spek PJ, Salomons GS, Hoeijmakers JHJ, Yesodharan D, Nampoothiri S, Ogi T, Lehmann AR, Orioli D, Vermeulen W. Botta E, et al. Among authors: lehmann ar. Hum Mol Genet. 2021 Aug 28;30(18):1711-1720. doi: 10.1093/hmg/ddab123. Hum Mol Genet. 2021. PMID: 33909043 Free PMC article.
Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.
Garcia-Moreno H, Fassihi H, Sarkany RPE, Phukan J, Warner T, Lehmann AR, Giunti P. Garcia-Moreno H, et al. Among authors: lehmann ar. Ann Clin Transl Neurol. 2017 Dec 4;5(1):102-108. doi: 10.1002/acn3.511. eCollection 2018 Jan. Ann Clin Transl Neurol. 2017. PMID: 29376097 Free PMC article.
256 results