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2013 1
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78 results

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Page 1
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
Efthymiou S, Leo CP, Deng C, Lin SJ, Maroofian R, Lin R, Karagoz I, Zhang K, Kaiyrzhanov R, Scardamaglia A, Owrang D, Turchetti V, Jahnke F, Huang K, Petree C, Derrick AV, Rees MI, Alvi JR, Sultan T, Li C, Jacquemont ML, Tran-Mau-Them F, Valenzuela-Palafoll M, Sidlow R, Yoon G, Morrow MM, Carere DA, O'Connor M, Fleischer J, Gerkes EH, Phornphutkul C, Isidor B, Rivier-Ringenbach C, Philippe C, Kurul SH, Soydemir D, Kara B, Sunnetci-Akkoyunlu D, Bothe V, Platzer K, Wieczorek D, Koch-Hogrebe M, Rahner N, Thuresson AC, Matsson H, Frykholm C, Bozdoğan ST, Bisgin A, Chatron N, Lesca G, Cabet S, Tümer Z, Hjortshøj TD, Rønde G, Marquardt T, Reunert J, Afzal E, Zamani M, Azizimalamiri R, Galehdari H, Nourbakhsh P, Chamanrou N, Chung SK, Suri M, Benke PJ, Zaki MS, Gleeson JG, Calame DG, Pehlivan D, Yilmaz HI, Gezdirici A, Rad A, Abumansour IS, Oprea G, Bereketoğlu MB, Banneau G, Julia S, Zeighami J, Ashoori S, Shariati G, Sedaghat A, Sabri A, Hamid M, Parvas S, Tajudin TA, Abdullah U, Baig SM, Chung WK, Glazunova OO, Sabine S, Cheema HA, Zifarelli G, Bauer P, Sidpra J, Mankad K, Vona B, Fry AE, Varshney GK, Houlden H, Fu D. Efthymiou S, et al. Among authors: sedaghat a. Am J Hum Genet. 2025 May 1;112(5):1117-1138. doi: 10.1016/j.ajhg.2025.03.015. Epub 2025 Apr 16. Am J Hum Genet. 2025. PMID: 40245862 Free PMC article.
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Laugwitz L, Cheng F, Collins SC, Hustinx A, Navarro N, Welsch S, Cox H, Hsieh TC, Vijayananth A, Buchert R, Bender B, Efthymiou S, Murphy D, Zafar F, Rana N, Grasshoff U, Falb RJ, Grimmel M, Seibt A, Zheng W, Ghaedi H, Thirion M, Couette S, Azizimalamiri R, Sadeghian S, Galehdari H, Zamani M, Zeighami J, Sedaghat A, Ramshe SM, Zare A, Alipoor B, Klee D, Sturm M, Ossowski S, Houlden H, Riess O, Wieczorek D, Gavin R, Maroofian R, Krawitz P, Yalcin B, Distelmaier F, Haack TB. Laugwitz L, et al. Among authors: sedaghat a. Brain. 2024 Jul 5;147(7):2471-2482. doi: 10.1093/brain/awae058. Brain. 2024. PMID: 38386308 Free PMC article.
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.
Dafsari HS, Deneubourg C, Singh K, Maroofian R, Suprenant Z, Kho AL, Ingham NJ, Steel KP, Sheshadri P, Baur F, Hentrich L, Gerisch B, Zamani M, Alves C, Siddiqui A, Dafsari HS, Salari M, Lang AE, Harris M, Abdelaleem A, Sadeghian S, Azizimalamiri R, Galehdari H, Shariati G, Sedaghat A, Zeighami J, Calame D, Marafi D, Duan R, Boehnke A, Clark GD, Rosenfeld JA, Mohila CA, Steel D, Chopra S, Sharma S, Kohlschmidt N, Patzer S, Saffari A, Ebrahimi-Fakhari D, Çavdartepe BE, Chang IJ, Beckman E, Peters R, Fennell AP, Lo B, Averdunk L, Distelmaier F, Baethmann M, Elmslie F, Joost K, Nampoothiri S, Yesodharan D, Mandel H, Kimball A, Kline AD, Mignot C, Keren B, Laugel V, Õunap K, Devadathan K, van Berkestijn FMC, Silwal A, Koene S, Verma S, Karim MY, Boubidi C, Aziz M, ElGhazali G, Mattas L, Miryounesi M, Hashemi-Gorji F, Alavi S, Nouri N, Noruzinia M, Kavousi S, Kamath A, Jayawant S, Saneto R, Haridy NA, Kart PO, Cansu A, Joubert M, Beneteau C, Stuurman KE, Wilke M, Barakat TS, Tajsharghi H, Scardamaglia A, Vallian S, Hız S, Shoeibi A, Boostani R, Hashemi N, Babaei M, Alsaleh NS, Porter J, Attié-Bitach T, Marzin P, Wicher D, Gold JI, Schuler E, Kashgari A, Alanazi RF, Eyaid W, Enge… See abstract for full author list ➔ Dafsari HS, et al. Among authors: sedaghat a. Ann Neurol. 2025 Nov;98(5):932-950. doi: 10.1002/ana.78013. Epub 2025 Oct 6. Ann Neurol. 2025. PMID: 41053928 Free PMC 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: sedaghat a. 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.
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.
Rawlins LE, Maroofian R, Cannon SJ, Daana M, Zamani M, Ghani S, Leslie JS, Ubeyratna N, Khan N, Khan H, Scardamaglia A, Cloarec R, Khan SA, Umair M, Sadeghian S, Galehdari H, Al-Maawali A, Al-Kindi A, Azizimalamiri R, Shariati G, Ahmad F, Al-Futaisi A, Rodriguez Cruz PM, Salazar-Villacorta A, Ndiaye M, Diop AG, Sedaghat A, Saberi A, Hamid M, Zaki MS, Vona B, Owrang D, Alhashem AM, Obeid M, Khan A, Beydoun A, Najjar M, Tajsharghi H, Zifarelli G, Bauer P, Hakami WS, Al Hashem AM, Boustany RN, Burglen L, Alavi S, Gunning AC, Owens M, Karimiani EG, Gleeson JG, Milh M, Salah S, Khan J, Haucke V, Wright CF, McGavin L, Elpeleg O, Shabbir MI, Houlden H, Ebner M, Baple EL, Crosby AH. Rawlins LE, et al. Among authors: sedaghat a. Genet Med. 2025 Feb;27(2):101278. doi: 10.1016/j.gim.2024.101278. Epub 2024 Sep 21. Genet Med. 2025. PMID: 39315527 Free PMC article.
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
Tábara LC, Al-Salmi F, Maroofian R, Al-Futaisi AM, Al-Murshedi F, Kennedy J, Day JO, Courtin T, Al-Khayat A, Galedari H, Mazaheri N, Protasoni M, Johnson M, Leslie JS, Salter CG, Rawlins LE, Fasham J, Al-Maawali A, Voutsina N, Charles P, Harrold L, Keren B, Kunji ERS, Vona B, Jelodar G, Sedaghat A, Shariati G, Houlden H, Crosby AH, Prudent J, Baple EL. Tábara LC, et al. Among authors: sedaghat a. Brain. 2022 Sep 14;145(9):3095-3107. doi: 10.1093/brain/awac123. Brain. 2022. PMID: 35718349 Free PMC article.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M. Maroofian R, et al. Among authors: sedaghat a. Brain. 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. Brain. 2023. PMID: 37517035 Free PMC article.
78 results