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16 results

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Page 1
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: al saman a. Brain. 2024 Apr 4;147(4):1436-1456. doi: 10.1093/brain/awad380. Brain. 2024. PMID: 37951597 Free PMC article.
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature.
Ramakrishna NB, Mohamad Sahari UB, Johmura Y, Ali NA, Alghamdi M, Bauer P, Khan S, Ordoñez N, Ferreira M, Pinto Basto J, Alkuraya FS, Faqeih EA, Mori M, Almontashiri NAM, Al Shamsi A, ElGhazali G, Abu Subieh H, Al Ojaimi M, El-Hattab AW, Said Al-Kindi SA, Alhashmi N, Alhabshan F, Al Saman A, Tfayli H, Arabi M, Khalifeh S, Taylor A, Alfadhel M, Jain R, Sinha S, Shenbagam S, Ramachandran R, Altunoğlu U, Jacob A, Thalange N, El Bejjani M, Perrin A, Shin JW, Al-Maawali A, Al-Shidhani A, Al-Futaisi A, Rabea F, Chekroun I, Almarri MA, Ohta T, Nakanishi M, Alsheikh-Ali A, Ali FR, Bertoli-Avella AM, Reversade B, Abou Tayoun A. Ramakrishna NB, et al. Among authors: al saman a. Am J Hum Genet. 2025 May 1;112(5):1233-1246. doi: 10.1016/j.ajhg.2025.03.013. Epub 2025 Apr 10. Am J Hum Genet. 2025. PMID: 40215970
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, Patel N, Hashem M, Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al Sharif H, Alamoudi W, Kentab A, Bashiri FA, Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, Hashem A, Al Asmari A, Saleh MM, AlSaman A, Alhasan KA, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan ZN, Al-Husain M, Osama Khalil R, Abd El Meguid N, Masri A, Ali R, Ben-Omran T, El Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Altassan N, Arold ST, Abouelhoda M, Wakil SM, Monies D, Shaheen R, Alkuraya FS. Anazi S, et al. Mol Psychiatry. 2017 Apr;22(4):615-624. doi: 10.1038/mp.2016.113. Epub 2016 Jul 19. Mol Psychiatry. 2017. PMID: 27431290
Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy.
Ong RW, AlSaman A, Selcen D, Arabshahi A, Yau KS, Ravenscroft G, Duff RM, Atkinson V, Allcock RJ, Laing NG. Ong RW, et al. J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):1058-60. doi: 10.1136/jnnp-2014-307608. Epub 2014 Mar 7. J Neurol Neurosurg Psychiatry. 2014. PMID: 24610938 No abstract available.
Spinal muscular atrophy (SMA).
Al-Saman A, Mudhafar O. Al-Saman A, et al. Neurosciences (Riyadh). 2011 Jul;16(3):298-9. Neurosciences (Riyadh). 2011. PMID: 21938884 No abstract available.
Consensus Statement on the Management of Duchenne Muscular Dystrophy in Saudi Arabia During the Coronavirus Disease 2019 Pandemic.
Bamaga AK, Alghamdi F, Alshaikh N, Altwaijri W, Bashiri FA, Hundallah K, Abukhaled M, Muthaffar OY, Al-Mehmadi S, Jamaly TA, Al-Muhaizea MA, Al-Saman A. Bamaga AK, et al. Among authors: al saman a. Front Pediatr. 2021 Feb 17;9:629549. doi: 10.3389/fped.2021.629549. eCollection 2021. Front Pediatr. 2021. PMID: 33681102 Free PMC article.
16 results