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Maha Zaki

National Research Center

Housing and Building

Housing and Building

Egypt

SCHOLARLY PAPERS

2

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307

TOTAL CITATIONS

0

Scholarly Papers (2)

1.

Clinical and Neuroradiological Spectrum of Biallelic Variants in NOTCH3

Number of pages: 23 Posted: 15 Mar 2024
University College London - National Hospital for Neurology and Neurosurgery, Children's Hospital of Philadelphia, Tawam Hospital, Sheikh Khalifa Medical City, National Research Center, ASST-Spedali Civili of Brescia, University of Siena, University of Cambridge, University of Cambridge, Sultan Qaboos University, Sultan Qaboos University, ASST-Spedali Civili of Brescia, ASST-Spedali Civili of Brescia, Children’s Hospital Zagreb, Instituto Nacional de Medicina Genomica, University of Tübingen - Department of Cellular Neurology, King Faisal Specialist Hospital and Research Centre, Kermanshah University of Medical Sciences, Kermanshah University of Medical Sciences, Pianeta Salute, University of Campania Luigi Vanvitelli, University of California, San Diego (UCSD) - Rady Children’s Institute for Genomic Medicine, Istanbul University - Faculty of Medicine, University of Siena, University Hospital Careggi, University Hospital Careggi, Sheikh Khalifa Medical City, Sheikh Khalifa Medical City, University College London - National Hospital for Neurology and Neurosurgery, King Faisal Specialist Hospital and Research Centre, University of Siena, Centogene AG, University of Tübingen - Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, University of Miami - John P Hussman Institute for Human Genomics, University of Miami, Çukurova University - Faculty of Medicine, University of Queensland, Instituto Nacional de Medicina Genómica, General Hospital “Dr. Aurelio Valdivieso”, North Khorasan University of Medical Sciences, Centogene AG, 3billion Inc., University of London - Molecular and Clinical Sciences Research Institute, University of Freiburg - Center for Pediatrics and Adolescent Medicine, University of California, San Diego (UCSD) - Department of Neurosciences, Boston Children’s Hospital/Harvard Medical School, King Faisal Specialist Hospital and Research Centre, Shahid Beheshti University, University of Cambridge, University College London - UK Dementia Research Institute and University College London - UCL Queen Square Institute of Neurology
Downloads 214 (356,192)

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NOTCH3, CADASIL, leukoencephalopathy, stroke

2.

Biallelic ACER3 Variants Cause Infantile- and Early-Childhood-Onset Neurodegeneration with Leukodystrophy

Number of pages: 44 Posted: 13 Feb 2026
Rauan B. Kaiyrzhanov, Ruijuan Xu, Mina Zamani, Robert D. Healey, César Augusto Pinheiro Ferreira Alves, Maha Zaki, Arpita Devi, Laura Planas-Serra, Mahtab Tavasoli, Daniel Calame, Daniel Canals, Varunvenkat M. Srinivasan, Gergely Karsai, Cynthia J. Tifft, Zahra Firoozfar, Mohammad Yahya Vahidi Mehrjardi, Mohamed S. Abdel-Hamid, Gozde Yesil, Shahryar Alavi, Huseyin Per, Hakan Gümüş, Anju Shukla, Giovanni Zifarelli, Farzad Hashemi-Gorji, Amy Pizzino, Agatha Schluter, Mónica Troncoso Schifferli, Kandamurugu Manickam, Dimah Saade, Sandra Donkervoort, Lisa Emrick, Yavuz Oktay, Omar Abdul-Rahman, Lynne Wolfe, Emily C. Boothe, Hossein Darvish, Vahid Reza Yassaee, Toktam Moosavian, Kimberly McDonald, Mauricio de Castro, Marcus Lee, Meriel Mcentagart, Katrina Stone, Sahar Mansour, Shane McKee, Klaus Schmitz-Abe, Arturo Garcia Villaseñor, Mauricio R. Delgado, Richard Chang, Warren Marks, James Bartley, Adam J. Guenzel, Jorge Carranza-del Rio, Eloísa Añorve, Mohammad Miryounesi, Emrah Yücesan, Beyza Goncu, Akif Ayaz, Ayca Dilruba Aslanger, Klaas J. Wierenga, Aaliya A. Ahmad, Ibrahim Moussaoui, Jona Mijalkovic, Shimriet Zeidler, Frank Sleutels, Erika E. Ward, Amelia Kirby, Lauren Marie Baldwin, Faezeh Jamali, Majid Alfadhel, Muhammad Umair, Jose Abdenur, Rebekah Barrick, Maija R. Steenari, Radhakrishnan Periyasamy, Katta M. Girisha, Abdelrahim Abdrabou Sadek, Danielle Demarzo, Melissa Napoli, Yazmin Enchautegui Colon, Brahim Tabarki, Laila Selim, Nihal Almenabawy, Carol J. Saunders, Randi Gadea, Ana S.A. Cohen, Jean-Baptiste Le Pichon, Fatemeh Shirazi, Shiva Vaheb Hossinabadi, Motaharesadat Hashemi, Mohammad Mousaei Ghasroldasht, Mohammadreza Dehghani, Carsten Bonnemann, Rita Horvath, Hanns Lochmuller, Semra Hız Kurul, Mojtaba Movahedinia, Ali Rashidi-Nezhad, Reza Shervin Badv, Zahra Rezaei, Mohnish Suri, Annarita Scardamaglia, David Murphy, Peter Bauer, Stanislav Sokolenko, SYNaPS Study Group, Tahsin Stefan Barakat, Linyan Meng, Vykuntaraju K. Gowda, Thorsten Hornemann, Joseph G. Gleeson, Adeline Vanderver, Jill Anne Rosenfeld, Aurora Pujol, Sebastien Granier, Christopher McMaster, Cungui Mao, Henry Houlden and Reza Maroofian
South Kazakhstan Medical Academy, State University of New York (SUNY), Stony Brook, University College London, University of Montpellier, Harvard University - Harvard Medical School, National Research Center, State University of New York (SUNY), Stony Brook, Hospital Duran i Reynals (ICO), Dalhousie University - Department of Pharmacology, Indira Gandhi Institute of Child Health, State University of New York (SUNY), Stony Brook, Indira Gandhi Institute of Child Health, University Hospital Zurich, Government of the United States of America - National Institutes of Health (NIH), Palindrome, Shahid Sadoughi University of Medical Sciences, National Research Centre, Istanbul University, University College London, Erciyes University, Erciyes University, Manipal Academy of Higher Education (MAHE), Centogene AG, Shahid Beheshti University of Medical Sciences, Children’s Hospital of Philadelphia, Hospital Duran i Reynals (ICO), Universidad de Chile, Ohio State University (OSU), Government of the United States of America - National Institutes of Health (NIH), Government of the United States of America, National Institutes of Health - Neuromuscular and Neurogenetic Disorders of Childhood Section, Baylor College of Medicine, Dokuz Eylül University, Cornell University - Weill Cornell Medicine, Government of the United States of America - National Institutes of Health (NIH), University of Mississippi, Nikagene Genetic Diagnostic Laboratory, Shahid Beheshti University of Medical Sciences, Shahid Beheshti University of Medical Sciences, University of Mississippi - University of Mississippi Medical Center, University of Mississippi - University of Mississippi Medical Center, University of Mississippi - University of Mississippi Medical Center, NHS Foundation Trust - St. Georges University Hospitals, NHS Foundation Trust - St. Georges University Hospitals, University Hospitals of Derby and Burton NHS Foundation Trust, Belfast City Hospital, University of Miami, University of Miami, University of Texas at Dallas - The University of Texas Southwestern Medical Center, Children's Hospital of Orange County (CHOC), University of North Texas, Loma Linda University, GeneDx, LLC, Hospital San José de Celaya Eje Norponiente, Migenetika, Shahid Beheshti University of Medical Sciences, Istanbul University - Cerrahpasa, Bezmialem Vakif University, Istinye University, Istanbul University, University of Florida, University of Florida, University of Florida, Erasmus University Rotterdam (EUR), Erasmus University Rotterdam (EUR), Erasmus University Rotterdam (EUR), Wake Forest University - School of Medicine, Wake Forest University - School of Medicine, Wake Forest University - School of Medicine, North Khorasan University of Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences - King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences - King Abdullah International Medical Research Center, Rady Children's Health, Rady Children's Health, Rady Children's Health, Manipal Academy of Higher Education (MAHE), Manipal Academy of Higher Education (MAHE), Sohag University, University of Oklahoma - University of Oklahoma Health Sciences Center, University of Oklahoma - University of Oklahoma Health Sciences Center, University of Oklahoma - University of Oklahoma Health Sciences Center, University of Sousse, Cairo University, Cairo University, University of Missouri at Kansas City, Children's Mercy Kansas City, University of Missouri at Kansas City, Children's Mercy Kansas City, Palindrome, Ariagene Medical Genetic Laboratory, Shahid Beheshti University of Medical Sciences, Ariagene Medical Genetic Laboratory, Shahid Sadoughi University of Medical Sciences, National Institutes of Health - Neuromuscular and Neurogenetic Disorders of Childhood Section, University of Cambridge, University of Ottawa, Dokuz Eylül University, Shahid Sadoughi University of Medical Sciences, Tehran University of Medical Sciences, Tehran University of Medical Sciences, Indira Gandhi Institute of Child Health, Indira Gandhi Institute of Child Health, Indira Gandhi Institute of Child Health, Indira Gandhi Institute of Child Health, Centogene AG, Indira Gandhi Institute of Child Health, Indira Gandhi Institute of Child Health, Erasmus University Rotterdam (EUR) - Department of Clinical Genetics, Baylor University - Department of Molecular and Human Genetics, Indira Gandhi Institute of Child Health, University Hospital Zurich, University of California, San Diego (UCSD) - Department of Neurosciences, University of Pennsylvania, Baylor University - Department of Molecular and Human Genetics, University Hospital of Bellvitge - Bellvitge Biomedical Research Institute (IDIBELL), Univ. Montpellier - IGF, Dalhousie University - Department of Pharmacology, State University of New York (SUNY), Stony Brook, University College London - UK Dementia Research Institute and University College London - UCL Queen Square Institute of Neurology
Downloads 93 (725,554)

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ACER3, leukodystrophy, spasticity, alkaline ceramidase, cerebral palsy