RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Authors: Avinash V. Dharmadhikari, Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah, Itaru Samejima, Yanwen Shen, Martin A. Wear, Kiara E. Moore, Elena Kondakova, Natalia Mitina, Theres Schaub, Grace K. Lee, Christine H. Umandap, Sara M. Berger, Alejandro D. Iglesias, Bernt Popp, Rami Abou Jamra, Heinz Gabriel, Stefan Rentas, Alyssa L. Rippert, Christopher Gray, Kosuke Izumi, Laura K. Conlin, Daniel C. Koboldt, Theresa Mihalic Mosher, Scott E. Hickey, Dara V. F. Albert, Haley Norwood, Amy Feldman Lewanda, Hongzheng Dai, Pengfei Liu, Tadahiro Mitani, Dana Marafi, Hatice Koçak Eker, Davut Pehlivan, Jennifer E. Posey, Natalie C. Lippa, Natalie Vena, Erin L. Heinzen, David B. Goldstein, Cyril Mignot, Jean-Madeleine de Sainte Agathe, Nouriya Abbas Al-Sannaa, Mina Zamani, Saeid Sadeghian, Reza Azizimalamiri, Tahere Seifia, Maha S. Zaki, Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid, Lama Alabdi, Fowzan Sami Alkuraya, Heba Dawoud, Aya Lofty, Peter Bauer, Giovanni Zifarelli, Erum Afzal, Faisal Zafar, Stephanie Efthymiou, Daniel Gossett, Meghan C. Towne, Raey Yeneabat, Belen Perez-Duenas, Ana Cazurro-Gutierrez, Edgard Verdura, Veronica Cantarin-Extremera, Ana do Vale Marques, Aleksandra Helwak, David Tollervey, Sandeep N. Wontakal, Vimla S. Aggarwal, Jill A. Rosenfeld, Victor Tarabykin, Shinya Ohta, James R. Lupski, Henry Houlden, William C. Earnshaw, Erica E. Davis, A. Arockia Jeyaprakash, Jun Liao

Source: Nature Communications, Vol 16, Iss 1, Pp 1-24 (2025)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/860e70257811492c86104f77a86c65ba

The association of 'Neurofibromatosis-1, congenital pseudarthrosis of the Tibia and type 1 DM' report of two cases and literature review

Authors: Mahmoud A. El-Rosasy, Abdullah Khaled, Amr M. Elrosasy, Heba Dawoud

Source: Journal of Orthopaedic Reports, Vol 4, Iss 1, Pp 100378- (2025)

Subject Terms: Orthopedic surgery, RD701-811

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2773157X24000730; https://doaj.org/toc/2773-157X

Access URL: https://doaj.org/article/a903e58df4f446468fbbe8f1ea669065

Lysosomal storage diseases in the era of COVID-19: a report of an Egyptian case of alpha-fucosidosis and a summary of the lysosomal storage diseases-COVID-19 relationship

Authors: Heba Saed El-Amawy, Heba Dawoud

Source: Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-6 (2022)

Subject Terms: Alpha-fucosidosis, Lysosomal storage diseases, COVID-19, Respiratory infection, Angiokeratoma, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2090-2441

Access URL: https://doaj.org/article/7bbd4321572043caae33aac18825ad34

Acute Intermittent Porphyria as a Rare Challenging Neuro-Metabolic Disease; a Case Report

Authors: Elsayed Abed, Omer Saeed, Basem Abd El-Hamid, Mohamed Elsayed, Heba Dawoud, Nahla Heikal, Ahmed Elshafie, Aya Hagar, Hossam Emam, Ahmed Farag El-adawey, Abdel-Ghaffar Fayed, Ahmed Hassan Elsheshiny, Mahmoud Galal Ahmed

Source: Archives of Academic Emergency Medicine, Vol 10, Iss 1 (2022)

Subject Terms: Electrolyte Imbalance, Porphyria, Acute Intermittent, Polyneuropathies, Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9

File Description: electronic resource

Relation: https://journals.sbmu.ac.ir/aaem/index.php/AAEM/article/view/1780; https://doaj.org/toc/2645-4904

Access URL: https://doaj.org/article/3863aff8387c49658988c6b4618221fe

Propionic and Methylmalonic Acidemias: Initial Clinical and Biochemical Presentation

Authors: Amira Mobarak, Heba Dawoud, Wesam A. Mokhtar, Abdelrahim A. Sadek, Gihan Mohamed Bebars, Amr Ahmed Othman, Rofaida M. Magdy, Hanaa Nofal, Amr Zoair

Source: International Journal of Pediatrics, Vol 2020 (2020)

Subject Terms: Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1687-9740; https://doaj.org/toc/1687-9759

Access URL: https://doaj.org/article/69b88236a1fa4f88bfb9144fe8e927d6

Clinical Course and Nutritional Management of Propionic and Methylmalonic Acidemias

Authors: Amira Mobarak, Heba Dawoud, Hanaa Nofal, Amr Zoair

Source: Journal of Nutrition and Metabolism, Vol 2020 (2020)

Subject Terms: Nutritional diseases. Deficiency diseases, RC620-627

File Description: electronic resource

Relation: https://doaj.org/toc/2090-0724; https://doaj.org/toc/2090-0732

Access URL: https://doaj.org/article/9a846501fe214e2d80dcb07612fb383e