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Page 1
Recessive TMOD1 mutation causes childhood cardiomyopathy.
Vasilescu C, Colpan M, Ojala TH, Manninen T, Mutka A, Ylänen K, Rahkonen O, Poutanen T, Martelius L, Kumari R, Hinterding H, Brilhante V, Ojanen S, Lappalainen P, Koskenvuo J, Carroll CJ, Fowler VM, Gregorio CC, Suomalainen A. Vasilescu C, et al. Among authors: carroll cj. Commun Biol. 2024 Jan 2;7(1):7. doi: 10.1038/s42003-023-05670-9. Commun Biol. 2024. PMID: 38168645 Free PMC article.
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.
Whittle EF, Chilian M, Karimiani EG, Progri H, Buhas D, Kose M, Ganetzky RD, Toosi MB, Torbati PN, Badv RS, Shelihan I, Yang H, Elloumi HZ, Lee S, Jamshidi Y, Pittman AM, Houlden H, Ignatius E, Rahman S, Maroofian R, Yoon WH, Carroll CJ. Whittle EF, et al. Among authors: carroll cj. Genet Med. 2023 Feb;25(2):100332. doi: 10.1016/j.gim.2022.11.001. Epub 2022 Dec 15. Genet Med. 2023. PMID: 36520152 Free PMC article.
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta AT, Marafi D, Zaki MS, O'Brien TJ, Karimiani EG, Kaiyrzhanov R, Takizawa M, Ohori S, Leong HY, Akay G, Galehdari H, Zamani M, Romy R, Carroll CJ, Toosi MB, Ashrafzadeh F, Imannezhad S, Malek H, Ahangari N, Tomoum H, Gowda VK, Srinivasan VM, Murphy D, Dominik N, Elbendary HM, Rafat K, Yilmaz S, Kanmaz S, Serin M, Krishnakumar D, Gardham A, Maw A, Rao TS, Alsubhi S, Srour M, Buhas D, Jewett T, Goldberg RE, Shamseldin H, Frengen E, Misceo D, Strømme P, Magliocco Ceroni JR, Kim CA, Yesil G, Sengenc E, Guler S, Hull M, Parnes M, Aktas D, Anlar B, Bayram Y, Pehlivan D, Posey JE, Alavi S, Madani Manshadi SA, Alzaidan H, Al-Owain M, Alabdi L, Abdulwahab F, Sekiguchi F, Hamanaka K, Fujita A, Uchiyama Y, Mizuguchi T, Miyatake S, Miyake N, Elshafie RM, Salayev K, Guliyeva U, Alkuraya FS, Gleeson JG, Monaghan KG, Langley KG, Yang H, Motavaf M, Safari S, Alipour M, Ogata K, Brown AEX, Lupski JR, Houlden H, Matsumoto N. Saida K, et al. Among authors: carroll cj. Genet Med. 2023 Jan;25(1):90-102. doi: 10.1016/j.gim.2022.09.010. Epub 2022 Oct 31. Genet Med. 2023. PMID: 36318270 Free article.
Phenotypic continuum of NFU1-related disorders.
Kaiyrzhanov R, Zaki MS, Lau T, Sen S, Azizimalamiri R, Zamani M, Sayin GY, Hilander T, Efthymiou S, Chelban V, Brown R, Thompson K, Scarano MI, Ganesh J, Koneev K, Gülaçar IM, Person R, Sadykova D, Maidyrov Y, Seifi T, Zadagali A, Bernard G, Allis K, Elloumi HZ, Lindy A, Taghiabadi E, Verma S, Logan R, Kirmse B, Bai R, Khalaf SM, Abdel-Hamid MS, Sedaghat A, Shariati G, Issa M, Zeighami J, Elbendary HM, Brown G, Taylor RW, Galehdari H, Gleeson JJ, Carroll CJ, Cowan JA, Moreno-De-Luca A, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: carroll cj. Ann Clin Transl Neurol. 2022 Dec;9(12):2025-2035. doi: 10.1002/acn3.51679. Epub 2022 Oct 18. Ann Clin Transl Neurol. 2022. PMID: 36256512 Free PMC article.
65 results