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MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium; Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE. Donkervoort S, et al. Among authors: kaur r. Acta Neuropathol. 2019 Dec;138(6):1013-1031. doi: 10.1007/s00401-019-02059-z. Epub 2019 Aug 29. Acta Neuropathol. 2019. PMID: 31463572 Free PMC article.
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schöneborn S, Norman A, Lopes Abath Neto O, Dusl M, Yuan X, Bartesaghi L, De Marco P, Alfares AA, Marom R, Arold ST, Guzmán-Vega FJ, Pena LD, Smith EC, Steinlin M, Babiker MO, Mohassel P, Foley AR, Donkervoort S, Kaur R, Ghosh PS, Stanley V, Musaev D, Nava C, Mignot C, Keren B, Scala M, Tassano E, Picco P, Doneda P, Fiorillo C, Issa MY, Alassiri A, Alahmad A, Gerard A, Liu P, Yang Y, Ertl-Wagner B, Kranz PG, Wentzensen IM, Stucka R, Stong N, Allen AS, Goldstein DB; Undiagnosed Diseases Network; Schoser B, Rösler KM, Alfadhel M, Capra V, Chrast R, Strom TM, Kamsteeg EJ, Bönnemann CG, Gleeson JG, Martini R, Janke C, Senderek J. Shashi V, et al. Among authors: kaur r. EMBO J. 2018 Dec 3;37(23):e100540. doi: 10.15252/embj.2018100540. Epub 2018 Nov 12. EMBO J. 2018. PMID: 30420557 Free PMC article.
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.
Bharucha-Goebel DX, Norato G, Saade D, Paredes E, Biancavilla V, Donkervoort S, Kaur R, Lehky T, Fink M, Armao D, Gray SJ, Waite M, Debs S, Averion G, Hu Y, Zein WM, Foley AR, Jain M, Bönnemann CG. Bharucha-Goebel DX, et al. Among authors: kaur r. Brain. 2021 Nov 29;144(10):3239-3250. doi: 10.1093/brain/awab179. Brain. 2021. PMID: 34114613 Free PMC article.
Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications.
Geist Hauserman J, Laverty CG, Donkervoort S, Hu Y, Silverstein S, Neuhaus SB, Saade D, Vaughn G, Malicki D, Kaur R, Li Y, Luo Y, Liu P, Burr P, Foley AR, Mohassel P, Bönnemann CG. Geist Hauserman J, et al. Among authors: kaur r. HGG Adv. 2024 Apr 11;5(2):100274. doi: 10.1016/j.xhgg.2024.100274. Epub 2024 Feb 2. HGG Adv. 2024. PMID: 38358893 Free PMC article.
2,123 results