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Expanding the clinical phenotype of IARS2-related mitochondrial disease.
Vona B, Maroofian R, Bellacchio E, Najafi M, Thompson K, Alahmad A, He L, Ahangari N, Rad A, Shahrokhzadeh S, Bahena P, Mittag F, Traub F, Movaffagh J, Amiri N, Doosti M, Boostani R, Shirzadeh E, Haaf T, Diodato D, Schmidts M, Taylor RW, Karimiani EG. Vona B, et al. Among authors: alahmad a. BMC Med Genet. 2018 Nov 12;19(1):196. doi: 10.1186/s12881-018-0709-3. BMC Med Genet. 2018. PMID: 30419932 Free PMC article.
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
Saoura M, Powell CA, Kopajtich R, Alahmad A, Al-Balool HH, Albash B, Alfadhel M, Alston CL, Bertini E, Bonnen PE, Bratkovic D, Carrozzo R, Donati MA, Di Nottia M, Ghezzi D, Goldstein A, Haan E, Horvath R, Hughes J, Invernizzi F, Lamantea E, Lucas B, Pinnock KG, Pujantell M, Rahman S, Rebelo-Guiomar P, Santra S, Verrigni D, McFarland R, Prokisch H, Taylor RW, Levinger L, Minczuk M. Saoura M, et al. Among authors: alahmad a. Hum Mutat. 2019 Oct;40(10):1731-1748. doi: 10.1002/humu.23777. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31045291 Free PMC article.
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.
Alahmad A, Nasca A, Heidler J, Thompson K, Oláhová M, Legati A, Lamantea E, Meisterknecht J, Spagnolo M, He L, Alameer S, Hakami F, Almehdar A, Ardissone A, Alston CL, McFarland R, Wittig I, Ghezzi D, Taylor RW. Alahmad A, et al. EMBO Mol Med. 2020 Nov 6;12(11):e12619. doi: 10.15252/emmm.202012619. Epub 2020 Sep 24. EMBO Mol Med. 2020. PMID: 32969598 Free PMC article.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Grønborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, Lam A, Manole A, Rodriguez DP, Durigon R, Pyle A, Albash B, Dionisi-Vici C, Murphy D, Martinelli D, Bugiardini E, Allis K, Lamperti C, Reipert S, Risom L, Laugwitz L, Di Nottia M, McFarland R, Vilarinho L, Hanna M, Prokisch H, Mayr JA, Bertini ES, Ghezzi D, Østergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H. Kaiyrzhanov R, et al. Among authors: alahmad a. Am J Hum Genet. 2022 Sep 1;109(9):1692-1712. doi: 10.1016/j.ajhg.2022.07.007. Am J Hum Genet. 2022. PMID: 36055214 Free PMC article.
Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.
Aburezq M, Alahmad A, Alsafi R, Al-Tawari A, Ramadan D, Shafik M, Abdelaty O, Makhseed N, Elshafie R, Ayed M, Hayat A, Dashti F, Marafi D, Albash B, Bastaki L, Alsharhan H. Aburezq M, et al. Among authors: alahmad a. Orphanet J Rare Dis. 2023 Sep 5;18(1):271. doi: 10.1186/s13023-023-02888-y. Orphanet J Rare Dis. 2023. PMID: 37670342 Free PMC article.
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1-Related Disorder.
Alzayed NT, Alzuabi AH, Alqusaimi RA, El-Anany EA, Alholle A, Aboelanine AH, Omar S, Alsafi R, Elmonairy AA, Alali FJ, Alahmad A, Alsharhan H, Albash B, Marafi D. Alzayed NT, et al. Among authors: alahmad a. Neurol Genet. 2024 May 22;10(3):e200156. doi: 10.1212/NXG.0000000000200156. eCollection 2024 Jun. Neurol Genet. 2024. PMID: 38784058 Free PMC article.
Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience.
Alsharhan H, Ahmed AA, Ali NM, Alahmad A, Albash B, Elshafie RM, Alkanderi S, Elkazzaz UM, Cyril PX, Abdelrahman RM, Elmonairy AA, Ibrahim SM, Elfeky YME, Sadik DI, Al-Enezi SD, Salloum AM, Girish Y, Al-Ali M, Ramadan DG, Alsafi R, Al-Rushood M, Bastaki L. Alsharhan H, et al. Among authors: alahmad a. Int J Neonatal Screen. 2021 Aug 17;7(3):56. doi: 10.3390/ijns7030056. Int J Neonatal Screen. 2021. PMID: 34449519 Free PMC article.
Best anticoagulation strategy with and without appendage occlusion for stroke-prophylaxis in postablation atrial fibrillation patients with cardiac amyloidosis.
Mohanty S, Torlapati PG, La Fazia VM, Kurt M, Gianni C, MacDonald B, Mayedo A, Allison J, Bassiouny M, Gallinghouse GJ, Burkhardt JD, Horton R, Di Biase L, Al-Ahmad A, Natale A. Mohanty S, et al. J Cardiovasc Electrophysiol. 2024 May 15. doi: 10.1111/jce.16308. Online ahead of print. J Cardiovasc Electrophysiol. 2024. PMID: 38751010
440 results