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Page 1
Molecular and clinical spectra of FBXL4 deficiency.
El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC. El-Hattab AW, et al. Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6. Hum Mutat. 2017. PMID: 28940506 Review.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Perenthaler E, Nikoncuk A, Yousefi S, Berdowski WM, Alsagob M, Capo I, van der Linde HC, van den Berg P, Jacobs EH, Putar D, Ghazvini M, Aronica E, van IJcken WFJ, de Valk WG, Medici-van den Herik E, van Slegtenhorst M, Brick L, Kozenko M, Kohler JN, Bernstein JA, Monaghan KG, Begtrup A, Torene R, Al Futaisi A, Al Murshedi F, Mani R, Al Azri F, Kamsteeg EJ, Mojarrad M, Eslahi A, Khazaei Z, Darmiyan FM, Doosti M, Karimiani EG, Vandrovcova J, Zafar F, Rana N, Kandaswamy KK, Hertecant J, Bauer P, AlMuhaizea MA, Salih MA, Aldosary M, Almass R, Al-Quait L, Qubbaj W, Coskun S, Alahmadi KO, Hamad MHA, Alwadaee S, Awartani K, Dababo AM, Almohanna F, Colak D, Dehghani M, Mehrjardi MYV, Gunel M, Ercan-Sencicek AG, Passi GR, Cheema HA, Efthymiou S, Houlden H, Bertoli-Avella AM, Brooks AS, Retterer K, Maroofian R, Kaya N, van Ham TJ, Barakat TS. Perenthaler E, et al. Acta Neuropathol. 2020 Mar;139(3):415-442. doi: 10.1007/s00401-019-02109-6. Epub 2019 Dec 9. Acta Neuropathol. 2020. PMID: 31820119 Free PMC article.
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.
AlMuhaizea M, AlMass R, AlHargan A, AlBader A, Medico Salsench E, Howaidi J, Ihinger J, Karachunski P, Begtrup A, Segura Castell M, Bauer P, Bertoli-Avella A, Kaya IH, AlSufayan J, AlQuait L, Chedrawi A, Arold ST, Colak D, Barakat TS, Kaya N. AlMuhaizea M, et al. Acta Neuropathol. 2020 Apr;139(4):791-794. doi: 10.1007/s00401-020-02128-8. Epub 2020 Jan 31. Acta Neuropathol. 2020. PMID: 32006098 No abstract available.
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. Ann Hum Genet. 2022 Jan;86(1):34-44. doi: 10.1111/ahg.12445. Epub 2021 Sep 28. Ann Hum Genet. 2022. PMID: 34582042
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, Jacobs EH, Houlden H, Pagnamenta AT, Metcalfe K, Jackson A, Banka S, De Simone L, Schwaede A, Kuntz N, Palculict TB, Abbas S, Umair M, AlMuhaizea M, Colak D, AlQudairy H, Alsagob M, Pereira C, Trunzo R, Karageorgou V, Bertoli-Avella AM, Bauer P, Bouman A, Hoefsloot LH, van Ham TJ, Issa M, Zaki MS, Gleeson JG, Willemsen R, Kaya N, Arold ST, Maroofian R, Sanderson LE, Barakat TS. Deng R, et al. Acta Neuropathol. 2023 Aug;146(2):353-368. doi: 10.1007/s00401-023-02579-9. Epub 2023 Apr 29. Acta Neuropathol. 2023. PMID: 37119330 Free PMC article.
Patient demographics and characteristics from an ambispective, observational study of patients with duchenne muscular dystrophy in Saudi Arabia.
AlSaman AS, Al Ghamdi F, Bamaga AK, AlShaikh N, Al Muqbil M, Muthaffar O, Bashiri FA, Ali B, Mulayim A, Heider E, Alshahrani AA, Al Muhaizea MA. AlSaman AS, et al. Among authors: al muhaizea ma. Front Pediatr. 2022 Sep 30;10:1020059. doi: 10.3389/fped.2022.1020059. eCollection 2022. Front Pediatr. 2022. PMID: 36275069 Free PMC article.
35 results