Search Results - "Eltazi, Isra"

Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy by Koko, Mahmoud, Elseed, Maha A., Mohammed, Inaam N., Hamed, Ahlam A., Abd Allah, Amal S. I., Yahia, Ashraf, Siddig, Rayan A., Altmüller, Janine, Toliat, Mohammad Reza, Elmahdi, Esra O., Amin, Mutaz, Ahmed, Elhami A., Eltazi, Isra Z. M., Elmugadam, Fatima A., Abdelgadir, Wasma A., Eltaraifee, Esraa, Ibrahim, Mohamed O. M., Ali, Nabila M. H., Malik, Hiba M., Babai, Arwa M., Bakhit, Yousuf H., Nürnberg, Peter, Ibrahim, Muntaser E., Salih, Mustafa A., Schubert, Julian, Elsayed, Liena E. O., Lerche, Holger

“…Heterozygous PRRT2 variants are frequently implicated in Self-limited Infantile Epilepsy, whereas homozygous variants are so far linked to severe presentations…”
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Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing by Yahia, Ashraf, Ayed, Ikhlas Ben, Hamed, Ahlam A., Mohammed, Inaam N., Elseed, Maha A., Bakhiet, Aisha M., Guillot‐Noel, Lena, Abozar, Fatima, Adil, Rawaa, Emad, Sara, Abubaker, Rayan, Musallam, Mhammed Alhassan, Eltazi, Isra Z. M., Omer, Zulfa, Maaroof, Omer M., Soussi, Amal, Bouzid, Amal, Kmiha, Sana, Kamoun, Hassen, Salih, Mustafa A., Ahmed, Ammar E., Elsayed, Liena, Masmoudi, Saber, Stevanin, Giovanni

“…Background Intellectual disability is a form of neurodevelopmental disorders that begin in childhood and is characterized by substantial intellectual…”
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COVID-19 Vaccine as a Potential Triggering Factor for Anti-Glomerular Basement Membrane (GBM) Disease: A Case Report and Literature Review by Ahmed, Mohanad, Mohamed, Sabah, Alhussein, Hussein, Eltazi, Isra, Sibira, Rayan M, Abdulhadi, Ahmad

“…Coronavirus 2019 (COVID-19) is considered one of the most significant medical pandemics of this century, with high morbidity and mortality associated with the…”
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Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia by Yahia, Ashraf, Elsayed, Liena E. O., Valter, Remi, Hamed, Ahlam A. A., Mohammed, Inaam N., Elseed, Maha A., Salih, Mustafa A., Esteves, Typhaine, Auger, Nicolas, Abubaker, Rayan, Koko, Mahmoud, Abozar, Fatima, Malik, Hiba, Adil, Rawaa, Emad, Sara, Musallam, Mhammed Alhassan, Idris, Razaz, Eltazi, Isra Z. M., Babai, Arwa, Ahmed, Elhami A. A., Abd Allah, Amal S. I., Mairey, Mathilde, Ahmed, Ahmed K. M. A., Elbashir, Mustafa I., Brice, Alexis, Ibrahim, Muntaser E., Ahmed, Ammar E., Lamari, Foudil, Stevanin, Giovanni

“…Introduction: Hereditary spastic paraplegia is a clinically and genetically heterogeneous neurological entity that includes more than 80 disorders which share…”
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Eagle syndrome an overlooked cause of internal carotid artery dissection, Case series by Safan, Abeer Sabry, Atta, Mohamed A., Eltazi, Isra, Melikyan, Gayane, El Sotouhy, Ahmed, Imam, Yahia

“…Eagle syndrome is a rare condition with a prevalence estimated at 4%, with 0.16% exhibiting symptoms of Eagle’s syndrome resulting from an elongated styloid…”
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PLA2G6‐associated late‐onset parkinsonism in a Sudanese family by Bakhit, Yousuf, Tesson, Christelle, Ibrahim, Mohamed O., Eltom, Khalid, Eltazi, Isra, Elsayed, Liena E.O., Lesage, Suzanne, Seidi, Osheik, Corvol, Jean‐Christophe, Wüllner, Ullrich

“…Introduction The phospholipase A2 group VI gene (PLA2G6) encodes an enzyme that catalyzes the hydrolytic release of fatty acids from phospholipids. Four…”
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Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview by Elsayed, Liena E O, Eltazi, Isra Zuhair, Ahmed, Ammar E, Stevanin, Giovanni

“…Hereditary spastic paraplegias (HSP) are a heterogeneous group of motor neurodegenerative disorders that have the core clinical presentation of pyramidal…”
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Spontaneous triple vessel cervicocephalic artery dissection in a young gentleman: A case report by Ali, Liaquat, Haroon, Khawaja, Akhtar, Naveed, Zammar, Khalid, Meer, Ahmad, Abualrob, Majd, Eltazi, Isra, Noorain, Zeba, Baniamer, Yahya, Yasin, Randa

“…Cervicocephalic arterial dissections (CADs) occur in 3 cases per 100,000 individuals across all ages. Multiple simultaneous CADs are found in 13 to 22% of…”
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Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations by Yahia, Ashraf, Hamed, Ahlam A. A., Mohamed, Inaam N., Elseed, Maha A., Salih, Mustafa A., El-sadig, Sarah M., Siddig, Hassab Elrasoul, Nasreldien, Ali Elsir Musa, Abdullah, Mohamed Ahmed, Elzubair, Maha, Omer, Farouk Yassen, Bakhiet, Aisha Motwakil, Abubaker, Rayan, Abozar, Fatima, Adil, Rawaa, Emad, Sara, Musallam, Mhammed Alhassan, Eltazi, Isra Z. M., Omer, Zulfa, Malik, Hiba, Mohamed, Mayada O. E., Elhassan, Ali A., Mohamed, Eman O. E., Ahmed, Ahmed K. M. A., Ahmed, Elhami A. A., Eltaraifee, Esraa, Hussein, Bidour K., Abd Allah, Amal S. I., Salah, Lina, Nimir, Mohamed, Tag Elseed, Omnia M., Elhassan, Tasneem E. A., Elbashier, Abubakr, Alfadul, Esraa S. A., Fadul, Moneeb, Ali, Khalil F., Taha, Shaimaa Omer M. A., Bushara, Elfatih E., Amin, Mutaz, Koko, Mahmoud, Ibrahim, Muntaser E., Ahmed, Ammar E., Elsayed, Liena E. O., Stevanin, Giovanni

“…Hereditary spinocerebellar degenerations (SCDs) is an umbrella term that covers a group of monogenic conditions that share common pathogenic mechanisms and…”
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Spontaneous triple vessel cervicocephalic artery dissection in a young gentleman: A case report by Ali, Liaquat, Haroon, Khawaja, Akhtar, Naveed, Zammar, Khalid, Meer, Ahmad, Abualrob, Majd, Eltazi, Isra, Noorain, Zeba, Baniamer, Yahya, Yasin, Randa

“…INTRODUCTIONCervicocephalic arterial dissections (CADs) occur in 3 cases per 100,000 individuals across all ages. Multiple simultaneous CADs are found in 13 to…”
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COVID-19 Vaccine as a Potential Triggering Factor for Anti-Glomerular Basement Membrane (GBM) Disease: A Case Report and Literature Review by Ahmed, Mohanad, Mohamed, Sabah, Alhussein, Hussein, Eltazi, Isra, Sibira, Rayan M, Abdulhadi, Ahmad

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