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1,196 results

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Page 1
Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration.
Del-Pozo-Rodriguez J, Tilly P, Lecat R, Vaca HR, Mosser L, Brivio E, Balla T, Gomes MV, Ramos-Morales E, Schwaller N, Salinas-Giegé T, VanNoy G, England EM, Lovgren AK, O'Leary M, Chopra M, Ojeda NM, Toosi MB, Eslahi A, Alerasool M, Mojarrad M, Pais LS, Yeh RC, Gable DL, Hashem MO, Abdulwahab F, Alzaidan H, Aldhalaan H, Tous E, Alsagheir A, Alowain M, Tamim A, Alfayez K, Alhashem A, Alnuzha A, Kamel M, Al-Awam BS, Elnaggar W, Almenabawy N, O'Donnell-Luria A, Neil JE, Gleeson JG, Walsh CA, Alkuraya FS, AlAbdi L, Elkhateeb N, Selim L, Srivastava S, Nedialkova DD, Drouard L, Romier C, Bayam E, Godin JD. Del-Pozo-Rodriguez J, et al. Among authors: kamel m. medRxiv [Preprint]. 2024 Nov 18:2024.03.01.24303485. doi: 10.1101/2024.03.01.24303485. medRxiv. 2024. PMID: 38496416 Free PMC article. Preprint.
Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations.
Mahmoud IG, Elmonem MA, Elkhateeb NM, Elnaggar W, Sobhi A, Girgis MY, Kamel M, Shaheen Y, Samaha M, Ramadan A, Zaki MS, El-Hawary B, Hassan SA, Khalifa IA, Mossad F, Al-Menabawy NM, Zielke S, Gleeson JG, Rolfs A, Selim LA. Mahmoud IG, et al. Among authors: kamel m. Clin Genet. 2019 Apr;95(4):537-539. doi: 10.1111/cge.13492. Epub 2019 Jan 11. Clin Genet. 2019. PMID: 30633340 Review. No abstract available.
Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS.
Zaki MS, Sharaf-Eldin WE, Rafat K, Elbendary HM, Kamel M, Elkhateeb N, Noureldeen MM, Abdeltawab MA, Sadek AA, Essawi ML, Lau T, Murphy D, Abdel-Hamid MS, Holuden H, Issa MY, Gleeson JG. Zaki MS, et al. Among authors: kamel m. Clin Genet. 2023 Aug;104(2):238-244. doi: 10.1111/cge.14338. Epub 2023 Apr 13. Clin Genet. 2023. PMID: 37055917 Free article.
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Elkhateeb N, Issa MY, Elbendary HM, Elnaggar W, Ramadan A, Rafat K, Kamel M, Abdel-Ghafar SF, Amer F, Hassaan HM, Trunzo R, Pereira C, Abdel-Hamid MS, D'Arco F, Bauer P, Bertoli-Avella AM, Girgis M, Gleeson JG, Zaki MS, Selim L. Elkhateeb N, et al. Among authors: kamel m. Clin Genet. 2024 May;105(5):510-522. doi: 10.1111/cge.14481. Epub 2024 Jan 14. Clin Genet. 2024. PMID: 38221827
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Maroofian R, Sarraf P, O'Brien TJ, Kamel M, Cakar A, Elkhateeb N, Lau T, Patil SJ, Record CJ, Horga A, Essid M, Selim L, Benrhouma H, Ben Younes T, Zifarelli G, Pagnamenta AT, Bauer P, Khundadze M, Mirecki A, Kamel SM, Elmonem MA, Ghayoor Karimiani E, Jamshidi Y, Offiah AC, Rossor AM, Youssef-Turki IB, Hübner CA, Munot P, Reilly MM, Brown AEX, Nagy S, Houlden H. Maroofian R, et al. Among authors: kamel sm, kamel m. Brain. 2024 Jul 5;147(7):2334-2343. doi: 10.1093/brain/awae091. Brain. 2024. PMID: 38527963 Free PMC article.
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.
Almeida LS, Pereira C, Aanicai R, Schröder S, Bochinski T, Kaune A, Urzi A, Spohr TCLS, Viceconte N, Oppermann S, Alasel M, Ebadat S, Iftikhar S, Jasinge E, Elsayed SM, Tomoum H, Marzouk I, Jalan AB, Cerkauskaite A, Cerkauskiene R, Tkemaladze T, Nadeem AM, El Din Mahmoud IG, Mossad FA, Kamel M, Selim LA, Cheema HA, Paknia O, Cozma C, Juaristi-Manrique C, Guatibonza-Moreno P, Böttcher T, Vogel F, Pinto-Basto J, Bertoli-Avella A, Bauer P. Almeida LS, et al. Among authors: kamel m. Eur J Hum Genet. 2022 Sep;30(9):1029-1035. doi: 10.1038/s41431-022-01119-5. Epub 2022 May 25. Eur J Hum Genet. 2022. PMID: 35614200 Free PMC article.
Chlorogenic Acid Ameliorates CCl4-induced Liver Fibrosis by Modulating the PI3K/AKT/mTOR Autophagy Pathway.
Negm A, El-Neanaey AA, Khadr AES, Kamel MAEN, Abdo Ismail AE, El Sayed IET, Darwish WS, Abd Eldaim MA, Okaz RS, Bahr MH, Almuraikhi N, Beshara N, Shawky TM, Mersal EA. Negm A, et al. Among authors: kamel maen. Anticancer Agents Med Chem. 2025 Jan 21. doi: 10.2174/0118715206357043250116063202. Online ahead of print. Anticancer Agents Med Chem. 2025. PMID: 39844564
1,196 results