Search Results - "AlMuhaizea, Mohammed"

SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature by AlHargan, Aljouhra, AlMuhaizea, Mohammed A., Almass, Rawan, Alwadei, Ali H., Daghestani, Maha, Arold, Stefan T., Kaya, Namik

“…Compound heterozygous mutations in SHQ1 have been associated with a rare and severe neurological disorder characterized by global developmental delay (GDD),…”
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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 by 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

“…Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic disorders, resulting in early-onset, therapy-resistant seizures and…”
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Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy by 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

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Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features by Alyamani, Suad A, Aldhalaan, Hesham M, Almuhaizea, Mohammed A, Abukhalid, Musaad F

“…To describe the complex phenotype of ATP1A3 and second to report new mutation of ATP1A3. This is a retrospective chart review of 7 patients who was diagnosed…”
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Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy by Altassan, Ruqaiah, AlQudairy, Hanan, AlJebreen, Sarah, AlMuhaizea, Mohammed, Al‐Hindi, Hindi, Pena‐Guerra, Karla A., Ghebeh, Hazem, Almzroua, Amer, Albakheet, Albandary, AlDosary, Mazhor, Colak, Dilek, Arold, Stefan T., Kaya, Namik

“…Congenital muscular dystrophies are a group of progressive disorders with wide range of symptoms associated with diverse cellular mechanisms. Recently,…”
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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model by Deng, Ruizhi, Medico-Salsench, Eva, Nikoncuk, Anita, Ramakrishnan, Reshmi, Lanko, Kristina, Kühn, Nikolas A., van der Linde, Herma C., Lor-Zade, Sarah, Albuainain, Fatimah, Shi, Yuwei, Yousefi, Soheil, Capo, Ivan, van den Herik, Evita Medici, van Slegtenhorst, Marjon, van Minkelen, Rick, Geeven, Geert, Mulder, Monique T., Ruijter, George J. G., Lütjohann, Dieter, Jacobs, Edwin H., Houlden, Henry, Pagnamenta, Alistair T., Metcalfe, Kay, Jackson, Adam, Banka, Siddharth, De Simone, Lenika, Schwaede, Abigail, Kuntz, Nancy, Palculict, Timothy Blake, Abbas, Safdar, Umair, Muhammad, AlMuhaizea, Mohammed, Colak, Dilek, AlQudairy, Hanan, Alsagob, Maysoon, Pereira, Catarina, Trunzo, Roberta, Karageorgou, Vasiliki, Bertoli-Avella, Aida M., Bauer, Peter, Bouman, Arjan, Hoefsloot, Lies H., van Ham, Tjakko J., Issa, Mahmoud, Zaki, Maha S., Gleeson, Joseph G., Willemsen, Rob, Kaya, Namik, Arold, Stefan T., Maroofian, Reza, Sanderson, Leslie E., Barakat, Tahsin Stefan

“…Hereditary spastic paraplegias (HSP) are rare, inherited neurodegenerative or neurodevelopmental disorders that mainly present with lower limb spasticity and…”
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