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Page 1
Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature.
AlQudairy H, AlDhalaan H, AlRuways S, AlMutairi N, AlNakiyah M, AlGhofaili R, AlBakheet A, Alomrani A, Alharbi OA, Tous E, AlSayed M, AlZaidan H, AlRasheed MM, AlOdaib A, Kaya N. AlQudairy H, et al. Among authors: alrasheed mm. Front Pediatr. 2023 Feb 27;10:1051534. doi: 10.3389/fped.2022.1051534. eCollection 2022. Front Pediatr. 2023. PMID: 36923948 Free PMC article.
Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome.
Al-Muhaizea MA, AlQuait L, AlRasheed A, AlHarbi S, Albader AA, AlMass R, Albakheet A, Alhumaidan A, AlRasheed MM, Colak D, Kaya N. Al-Muhaizea MA, et al. Among authors: alrasheed a, alrasheed mm. Neuromuscul Disord. 2020 Jul;30(7):611-615. doi: 10.1016/j.nmd.2020.04.007. Epub 2020 May 15. Neuromuscul Disord. 2020. PMID: 32616363
Genetics of ataxia telangiectasia in a highly consanguineous population.
Al-Muhaizea MA, Aldeeb H, Almass R, Jaber H, Binhumaid F, Alquait L, Abukhalid M, Aldhalaan H, Alsagob M, Al-Bakheet A, Aldosary M, Alkofide H, Alrasheed MM, Colak D, Kaya N. Al-Muhaizea MA, et al. Among authors: alrasheed mm. Ann Hum Genet. 2022 Jan;86(1):34-44. doi: 10.1111/ahg.12445. Epub 2021 Sep 28. Ann Hum Genet. 2022. PMID: 34582042
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H. Scala M, et al. Among authors: alrasheed mm. Hum Mutat. 2022 Mar;43(3):403-419. doi: 10.1002/humu.24326. Epub 2022 Jan 12. Hum Mutat. 2022. PMID: 34989426 Free PMC article.
A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.
Aldhalaan H, AlBakheet A, AlRuways S, AlMutairi N, AlNakiyah M, AlGhofaili R, Cardona-Londoño KJ, Alahmadi KO, AlQudairy H, AlRasheed MM, Colak D, Arold ST, Kaya N. Aldhalaan H, et al. Among authors: alrasheed mm. Genes (Basel). 2021 Dec 30;13(1):92. doi: 10.3390/genes13010092. Genes (Basel). 2021. PMID: 35052432 Free PMC article.
Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome.
Aboheimed GI, AlRasheed MM, Almudimeegh S, Peña-Guerra KA, Cardona-Londoño KJ, Salih MA, Seidahmed MZ, Al-Mohanna F, Colak D, Harvey RJ, Harvey K, Arold ST, Kaya N, Ruiz AJ. Aboheimed GI, et al. Among authors: alrasheed mm. J Biol Chem. 2022 Jul;298(7):102018. doi: 10.1016/j.jbc.2022.102018. Epub 2022 May 6. J Biol Chem. 2022. PMID: 35526563 Free PMC article.
X-linked inhibitor of apoptosis protein (XIAP) predicts disease-free survival in BRAFV600E mutant papillary thyroid carcinoma in middle eastern patients.
Parvathareddy SK, Siraj AK, Bu R, Iqbal K, Al-Rasheed M, Al-Haqawi W, Annaiyappanaidu P, Siraj N, Ahmed SO, Al-Sobhi SS, Al-Dayel F, Al-Kuraya KS. Parvathareddy SK, et al. Front Endocrinol (Lausanne). 2022 Dec 12;13:1054882. doi: 10.3389/fendo.2022.1054882. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36578953 Free PMC article.
80 results