Projects per year
Personal profile
Collaborations and top research areas from the last five years
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MALFORMATIONS OF CORTICAL DEVELOPMENT ? NEUROLOGICAL, EEG, MRI AND GENETIC CHARACTERISTICS
2/1/19 → 1/31/21
Project: Internal Grants (IG)
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TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia
Tábara, L. C., Al-Salmi, F., Maroofian, R., Al-Futaisi, A. M., Al-Murshedi, F., Kennedy, J., Day, J. O., Courtin, T., Al-Khayat, A., Galedari, H., Mazaheri, N., Protasoni, M., Johnson, M., Leslie, J. S., Salter, C. G., Rawlins, L. E., Fasham, J., Al-Maawali, A., Voutsina, N., Charles, P., & 11 others , Sept 1 2022, In: Brain. 145, 9, p. 3095-3107 13 p.Research output: Contribution to journal › Article › peer-review
Open Access12 Citations (Scopus) -
Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23
Al-Futaisi, A., Ahmad, F., Al-Kasbi, G., Al-Thihli, K., Koul, R. & Al-Maawali, A., Jan 2020, In: Clinical Genetics. 97, 4, p. 666-667 2 p.Research output: Contribution to journal › Article › peer-review
8 Citations (Scopus) -
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
Perenthaler, E., Nikoncuk, A., Yousefi, S., Berdowski, W. M., Alsagob, M., Capo, I., van der Linde, H. C., van den Berg, P., Jacobs, E. H., Putar, D., Ghazvini, M., Aronica, E., van IJcken, W. F. J., de Valk, W. G., Medici-van den Herik, E., van Slegtenhorst, M., Brick, L., Kozenko, M., Kohler, J. N., Bernstein, J. A., & 49 others , Mar 1 2020, In: Acta Neuropathologica. 139, 3, p. 415-442 28 p.Research output: Contribution to journal › Article › peer-review
Open Access30 Citations (Scopus) -
Gratification Phenomena in Infancy: A Report of Twenty-Nine Children
Koul, R., Alfutaisi, A., Mani, R., Abdelrahim, R. & Aladi, A., Jun 1 2020, In: Journal of Pediatric Neurology. 18, 3, p. 141-143 3 p.Research output: Contribution to journal › Article › peer-review
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Telemedicine in the Era of COVID-19 and Beyond: A new horizon.
AL-Futaisi, A., 2020, In: Sultan Qaboos University Medical Journal. 20, 4, p. e277-e279Research output: Contribution to journal › Article › peer-review
Open Access2 Citations (Scopus)
Press/Media
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Data on Encephalitis Published by Researchers at Sultan Qaboos University (N-Methyl-D-Aspartate Receptor Encephalitis, Post Herpes Encephalitis in Two Pediatric Cases)
2/7/24
1 item of Media coverage
Press/Media: Press / Media
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Reports on Hypoglycemia Findings from Sultan Qaboos University Provide New Insights (Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families)
Khalid Al-Thihli, Amna ALfutaisi, Fathiya AL-Murshedi & Watfa AL-Moamari
11/21/23
1 item of Media coverage
Press/Media: Press / Media
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50 local, regional and international experts discuss the latest challenges & treatments in neonatal neurology at 8th Saudi Pediatric Neurology Society Congress
11/6/23
1 item of Media coverage
Press/Media: Press / Media
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50 local, regional and international experts discuss the latest challenges & treatments in neonatal neurology at 8th Saudi Pediatric Neurology Society Congress
11/3/23 → 11/4/23
3 items of Media coverage
Press/Media: Press / Media
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50 local, regional and international experts discuss the latest challenges & treatments in neonatal neurology at 8th Saudi Pediatric Neurology Society Congress
11/3/23
1 item of Media coverage
Press/Media: Press / Media