Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

Authors: AlMuhaizea, Mohammed, AlMass, Rawan, AlHargan, Aljouhra, AlBader, Anoud, Medico Salsench, Eva, Howaidi, Jude, Ihinger, Jacie, Karachunski, Peter, Begtrup, Amber, Segura Castell, Monica, Bauer, Peter, Bertoli-Avella, Aida, Kaya, Ibrahim H., AlSufayan, Jumanah, AlQuait, Laila, Chedrawi, Aziza, Arold, Stefan T., Colak, Dilek, Barakat, Tahsin Stefan, Kaya, Namik

Source: Acta neuropathologica. 139(4):791-794

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168072468.0x000001&indx=1&recIds=ETOCvdc_100168072468.0x000001

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

Authors: Perenthaler, Elena, Nikoncuk, Anita, Yousefi, Soheil, Berdowski, Woutje M., Alsagob, Maysoon, Capo, Ivan, van der Linde, Herma C., van den Berg, Paul, Jacobs, Edwin H., Putar, Darija, Ghazvini, Mehrnaz, Aronica, Eleonora, van IJcken, Wilfred F. J., de Valk, Walter G., Medici-van den Herik, Evita, van Slegtenhorst, Marjon, Brick, Lauren, Kozenko, Mariya, Kohler, Jennefer N., Bernstein, Jonathan A., Monaghan, Kristin G., Begtrup, Amber, Torene, Rebecca, Al Futaisi, Amna, Al Murshedi, Fathiya, Mani, Renjith, Al Azri, Faisal, Kamsteeg, Erik-Jan, Mojarrad, Majid, Eslahi, Atieh, Khazaei, Zaynab, Darmiyan, Fateme Massinaei, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Vandrovcova, Jana, Zafar, Faisal, Rana, Nuzhat, Kandaswamy, Krishna K., Hertecant, Jozef, Bauer, Peter, AlMuhaizea, Mohammed A., Salih, Mustafa A., Aldosary, Mazhor, Almass, Rawan, Al-Quait, Laila, Qubbaj, Wafa, Coskun, Serdar, Alahmadi, Khaled O., Hamad, Muddathir H. A., Alwadaee, Salem, Awartani, Khalid, Dababo, Anas M., Almohanna, Futwan, Colak, Dilek, Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Gunel, Murat, Ercan-Sencicek, A. Gulhan, Passi, Gouri Rao, Cheema, Huma Arshad, Efthymiou, Stephanie, Houlden, Henry, Bertoli-Avella, Aida M., Brooks, Alice S., Retterer, Kyle, Maroofian, Reza, Kaya, Namik, van Ham, Tjakko J., Barakat, Tahsin Stefan

Source: Acta neuropathologica. 139(3):415-442

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100164168772.0x000001&indx=1&recIds=ETOCvdc_100164168772.0x000001

Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.

Authors: Altassan, Ruqaiah^1,2, AlQudairy, Hanan³, AlJebreen, Sarah³, AlMuhaizea, Mohammed^2,4, Al‐Hindi, Hindi⁵, Pena‐Guerra, Karla A.⁶, Ghebeh, Hazem⁷, Almzroua, Amer⁷, Albakheet, Albandary³, AlDosary, Mazhor³, Colak, Dilek⁸, Arold, Stefan T.^6,9, Kaya, Namik³, nkaya@kfshrc.edu.sa

Source: American Journal of Medical Genetics. Part A; Apr2024, Vol. 194 Issue 4, p1-5, 5p

Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features.

Authors: Alyamani, Suad A., Aldhalaan, Hesham M., Almuhaizea, Mohammed A., Abukhalid, Musaad F.

Source: Neurosciences; Jul2023, Vol. 28 Issue 3, p195-198, 4p

Subject Terms: GENETIC mutation, AGE of onset, FAMILY history (Medicine), ACQUISITION of data

Geographic Terms: RIYADH (Saudi Arabia)

SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature.

Authors: AlHargan, Aljouhra, AlMuhaizea, Mohammed A., Almass, Rawan, Alwadei, Ali H., Daghestani, Maha, Arold, Stefan T., Kaya, Namik

Source: Human Genome Variation; 2/22/2023, Vol. 10 Issue 1, p1-5, 5p

Subject Terms: MAGNETIC resonance imaging, CEREBELLUM degeneration, MISSENSE mutation, NEURAL development, FAMILIAL spastic paraplegia

Vici syndrome associated with unilateral lung hypoplasia and myopathyHow to cite this article: AlOwain M, AlHashem A, AlMuhaizea M, Humaidan H, AlHindi H, AlHomoud I, AlMogarri I. 2010. Vici syndrome associated with unilateral lung hypoplasia and myopathy. Am J Med Genet Part A 152A:1849–1853.Mohammed AlOwain and Amal AlHashem contributed equally to this study.

Authors: AlOwain, Mohammed, AlHashem, Amal, AlMuhaizea, Mohammed, Humaidan, Hani, AlHindi, Hindi, AlHomoud, Iftetah, AlMogarri, Ibrahim

Source: American Journal of Medical Genetics. Part A; July 2010, Vol. 152 Issue: 7 p1849-1853, 5p