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Page 1
Putting the Pieces Together: the Hair Cell Transduction Complex.
Holt JR, Tobin M, Elferich J, Gouaux E, Ballesteros A, Yan Z, Ahmed ZM, Nicolson T. Holt JR, et al. Among authors: ahmed zm. J Assoc Res Otolaryngol. 2021 Dec;22(6):601-608. doi: 10.1007/s10162-021-00808-0. Epub 2021 Oct 6. J Assoc Res Otolaryngol. 2021. PMID: 34617206 Free PMC article. Review.
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.
Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, Abeliovich H, Abildgaard MH, Abudu YP, Acevedo-Arozena A, Adamopoulos IE, Adeli K, Adolph TE, Adornetto A, Aflaki E, Agam G, Agarwal A, Aggarwal BB, Agnello M, Agostinis P, Agrewala JN, Agrotis A, Aguilar PV, Ahmad ST, Ahmed ZM, Ahumada-Castro U, Aits S, Aizawa S, Akkoc Y, Akoumianaki T, Akpinar HA, Al-Abd AM, Al-Akra L, Al-Gharaibeh A, Alaoui-Jamali MA, Alberti S, Alcocer-Gómez E, Alessandri C, Ali M, Alim Al-Bari MA, Aliwaini S, Alizadeh J, Almacellas E, Almasan A, Alonso A, Alonso GD, Altan-Bonnet N, Altieri DC, Álvarez ÉMC, Alves S, Alves da Costa C, Alzaharna MM, Amadio M, Amantini C, Amaral C, Ambrosio S, Amer AO, Ammanathan V, An Z, Andersen SU, Andrabi SA, Andrade-Silva M, Andres AM, Angelini S, Ann D, Anozie UC, Ansari MY, Antas P, Antebi A, Antón Z, Anwar T, Apetoh L, Apostolova N, Araki T, Araki Y, Arasaki K, Araújo WL, Araya J, Arden C, Arévalo MA, Arguelles S, Arias E, Arikkath J, Arimoto H, Ariosa AR, Armstrong-James D, Arnauné-Pelloquin L, Aroca A, Arroyo DS, Arsov I, Artero R, Asaro DML, Aschner M, Ashrafizadeh M, Ashur-Fabian O, Atanasov AG, Au AK, Auberger P, Auner HW, Aurelian L, Au… See abstract for full author list ➔ Klionsky DJ, et al. Among authors: ahmed zm. Autophagy. 2021 Jan;17(1):1-382. doi: 10.1080/15548627.2020.1797280. Epub 2021 Feb 8. Autophagy. 2021. PMID: 33634751 Free PMC article.
Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.
German HM, Zaki MS, Usmani MA, Karagoz I, Efthymiou S, Abdel-Hamid MS, Arabiyat HA, Ghaffar A, Shahzad M, van Bokhoven H, Ahmed ZM, Yaghini O, Hosseini N, Majidinezhad M, Alavi S, Bosma M, Broeks MH, Türkdoğan D, Suri M, Laura de Godoy L, Verhoeven-Duif NM, Riazuddin S, Gleeson JG, Alves C, Jans JJM, Riazuddin S, Houlden H, Maroofian R. German HM, et al. Among authors: ahmed zm. Genet Med. 2025 Dec;27(12):101587. doi: 10.1016/j.gim.2025.101587. Epub 2025 Sep 23. Genet Med. 2025. PMID: 41001736 Free article.
Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
Riazuddin S, Belyantseva IA, Giese APJ, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM. Riazuddin S, et al. Among authors: ahmed zm. Nat Genet. 2025 Sep;57(9):2340-2342. doi: 10.1038/s41588-025-02332-w. Nat Genet. 2025. PMID: 40858907 No abstract available.
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Thomas HB, Demain LAM, Cabrera-Orefice A, Schrauwen I, Shamseldin HE, Rea A, Bharadwaj T, Smith TB, Oláhová M, Thompson K, He L, Kaur N, Shukla A, Abukhalid M, Ansar M, Rehman S, Riazuddin S, Abdulwahab F, Smith JM, Stark Z, Mancilar H, Tumer S, Esen FN, Uctepe E, Topcu V, Yesilyurt A, Afzal E, Salari M, Carroll C, Zifarelli G, Bauer P, Kor D, Bulut FD, Houlden H, Maroofian R, Carrera S, Yue WW, Munro KJ, Alkuraya FS, Jamieson P, Ahmed ZM, Leal SM, Taylor RW, Wittig I, O'Keefe RT, Newman WG. Thomas HB, et al. Among authors: ahmed zm. Am J Hum Genet. 2025 Apr 3;112(4):952-962. doi: 10.1016/j.ajhg.2025.02.005. Epub 2025 Mar 4. Am J Hum Genet. 2025. PMID: 40043708 Free PMC article.
A Novel SLPI Splice Variant Confers Susceptibility to Otitis Media in Humans.
Elling CL, Ryan AF, Yarza TKL, Ghaffar A, Llanes EGDV, Kofonow JM, Reyes-Quintos MRT, Riazuddin S, Robertson CE, Tantoco MLC, Ahmed ZM, Chan AL, Frank DN, Chiong CM, Santos-Cortez RLP. Elling CL, et al. Among authors: ahmed zm. Int J Mol Sci. 2025 Feb 7;26(4):1411. doi: 10.3390/ijms26041411. Int J Mol Sci. 2025. PMID: 40003878 Free PMC article.
169 results