Zobrazeno 1 - 10
of 413
pro vyhledávání: '"Maha A. Zaki"'
Autor:
Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Maxime Lévesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem Al-Khater, Fowzan S. Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G. Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa Abd Elmaksoud, Huda G. El Said, Tawfiq Froukh, Harinder K. Gill, Joseph G. Gleeson, Laura Gogoll, Elaine S.-Y. Goh, Vykuntaraju K. Gowda, Tobias B. Haack, Mais O. Hashem, Stefan Hauser, Trevor L. Hoffman, Jacob S. Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G. Karimiani, Silke Kaulfuß, G. Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J. Marco, Kirsty McWalter, Arakel Minassian, Berge A. Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis M. Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G. Sadleir, Carol Saunders, Ludger Schoels, Vandana Shashi, Rebecca C. Spillmann, Varunvenkat M. Srinivasan, Paria N. Torbati, Tulay Tos, Undiagnosed Diseases Network, Maha S. Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas M. Durcan, Ziv Gan-Or, Massimo Avoli, Cesar Alves, Gaurav K. Varshney, Reza Maroofian, David A. Rudko, Peter S. McPherson
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
Abstract Developmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a
Externí odkaz:
https://doaj.org/article/67b9cc39749f4c32a8e5662c1d902770
Autor:
Hazem E. Mohammed, Zeyad Bady, Mohamed E. Haseeb, Heba Aboeldahab, Wessam E. Sharaf-Eldin, Maha S. Zaki
Publikováno v:
BMC Medicine, Vol 22, Iss 1, Pp 1-15 (2024)
Abstract Background Rett syndrome (RTT) is a rare, life-threatening, genetic neurodevelopmental disorder. Treatment in RTT encounters many challenges. Trofinetide, a modified amino-terminal tripeptide of insulin-like growth factor 1, has demonstrated
Externí odkaz:
https://doaj.org/article/1ecddfec354b47159acfb33846a29e32
Autor:
Pablo Iruzubieta, César Augusto Pinheiro Ferreira Alves, Aisha M. Al Shamsi, Gehad ElGhazali, Maha S. Zaki, Lorenzo Pinelli, Diego Lopergolo, Bernard P.H. Cho, Amy A. Jolly, Amna Al Futaisi, Fatema Al-Amrani, Jessica Galli, Elisa Fazzi, Katarina Vulin, Francisco Barajas-Olmos, Holger Hengel, Bayan Mohammed Aljamal, Vahideh Nasr, Farhad Assarzadegan, Michele Ragno, Luigi Trojano, Naomi Meave Ojeda, Arman Çakar, Silvia Bianchi, Francesca Pescini, Anna Poggesi, Amal Al Tenalji, Majid Aziz, Rahema Mohammad, Aziza Chedrawi, Nicola De Stefano, Giovanni Zifarelli, Ludger Schöls, Tobias B. Haack, Adriana Rebelo, Stephan Zuchner, Filiz Koc, Lyn R. Griffiths, Lorena Orozco, Karla García Helmes, Meisam Babaei, Peter Bauer, Won Chan Jeong, Ehsan Ghayoor Karimiani, Miriam Schmidts, Joseph G. Gleeson, Wendy K. Chung, Fowzan Sami Alkuraya, Bita Shalbafan, Hugh S. Markus, Henry Houlden, Reza Maroofian
Publikováno v:
EBioMedicine, Vol 107, Iss , Pp 105297- (2024)
Summary: Background: NOTCH3 encodes a transmembrane receptor critical for vascular smooth muscle cell function. NOTCH3 variants are the leading cause of hereditary cerebral small vessel disease (SVD). While monoallelic cysteine-involving missense var
Externí odkaz:
https://doaj.org/article/dcf457b6550e45488640bb16d06d46d7
Autor:
Sheng-Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S. Zaki, Huda Shujaa Aldeen, Ehsan Ghayoor Karimiani, Clarissa Rocca, Mahmoud M. Noureldeen, Ahmed K. Saad, Cassidy Petree, Tobias Bartolomaeus, Rami Abou Jamra, Giovanni Zifarelli, Aditi Gotkhindikar, Ingrid M. Wentzensen, Mingjuan Liao, Emalyn Elise Cork, Pratishtha Varshney, Narges Hashemi, Mohammad Hasan Mohammadi, Aboulfazl Rad, Juanita Neira, Mehran Beiraghi Toosi, Cordula Knopp, Ingo Kurth, Thomas D. Challman, Rebecca Smith, Asmahan Abdalla, Thomas Haaf, Mohnish Suri, Manali Joshi, Wendy K. Chung, Andres Moreno-De-Luca, Henry Houlden, Reza Maroofian, Gaurav K. Varshney
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-24 (2023)
Abstract Background Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous neurological and neurodevelopmental disorders. However, the validity of this association rema
Externí odkaz:
https://doaj.org/article/f946c3f7f70a4b7caee99c8a98b2e0b2
Autor:
Maha Atef Zaki, Gihan Ramzy, Samah Ali, Sahar Abdelatty Sharaf, Mohamed I. Hegazy, Emad Mostafa, Ibrahim Fawzy, Lobna El-Ghoneimy
Publikováno v:
The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, Vol 59, Iss 1, Pp 1-6 (2023)
Abstract Background Multiple sclerosis (MS) is a neurological disease that affects people aged 20–40 years on average. It classically affects young females of reproductive age. The prevalence of MS for females to males has increased markedly in rec
Externí odkaz:
https://doaj.org/article/0b6cd532d5524a259c2c90e26b3bcda7
Autor:
Maha Atef Zaki, Ahmed Mohamed Abdelalim, Husam Salah Mourad, Abdallah Adel Saad, Amr Mohamed Fouad
Publikováno v:
The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, Vol 59, Iss 1, Pp 1-9 (2023)
Abstract Background A wide variety of factors have been reported to influence stroke prognosis. Quality indicators serve as standards of care. The aim of this study is to assess the clinical and demographic characteristics of patients with stroke and
Externí odkaz:
https://doaj.org/article/04f1539e11ff4f139eb9b83ad441fd1a
Publikováno v:
BMC Research Notes, Vol 16, Iss 1, Pp 1-9 (2023)
Abstract Objective The study of the impact of some inherited defects in glycosylation on the biosynthesis of some lysosomal glycoproteins. Results description: Whole-exome sequencing revealed a homozygous variant; 428G > A; p. (R143K) in SRD5A3 in on
Externí odkaz:
https://doaj.org/article/52c6ebbaa71d4a42bf74f7555732288b
Autor:
Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H. Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J. Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A. Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S. Zaki, Alban Ziegler, David R. Thorburn, David A. Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
Van Haute et al describe autosomal recessive TEFM variants that impair mitochondrial transcription elongation and reduce the levels of promoter distal mitochondrial RNA transcripts, leading to heterogeneous mitochondrial diseases with a treatable neu
Externí odkaz:
https://doaj.org/article/cd5cc9ecdd2c4821a6750da1e26f46ce
Autor:
Hassan Hosny, Manal Mahmoud Al Kattan, Maha A. Zaki, Gihan M. Ramzy, Salsabil Abo Al-Azayem, Rehab Magdy
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-5 (2023)
Abstract Background Proper seizure control during pregnancy and postpartum is essential to optimize the outcome of women with epilepsy (WWE). The current work aimed to address factors related to seizure occurrence during pregnancy and postpartum. Met
Externí odkaz:
https://doaj.org/article/430f0f13aac346329c51fe3bc2913c6b
Autor:
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 2025-2035 (2022)
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affecte
Externí odkaz:
https://doaj.org/article/711cfaa4bbdd40c88cf90df5e876adc6