المؤلفون: Rawlins, Lettie E., Maroofian, Reza, Cannon, Stuart J., Daana, Muhannad, Zamani, Mina, Ghani, Shamsul, Leslie, Joseph S., Ubeyratna, Nishanka, Khan, Nasar, Khan, Hamid, Scardamaglia, Annarita, Cloarec, Robin, Khan, Shujaat Ali, Umair, Muhammad, Sadeghian, Saeid, Galehdari, Hamid, Al-Maawali, Almundher, Al-Kindi, Adila, Azizimalamiri, Reza, Shariati, Gholamreza, Ahmad, Faraz, Al-Futaisi, Amna, Rodriguez Cruz, Pedro M., Salazar-Villacorta, Ainara, Ndiaye, Moustapha, Diop, Amadou G., Sedaghat, Alireza, Saberi, Alihossein, Hamid, Mohammad, Zaki, Maha S., Vona, Barbara, Owrang, Daniel, Alhashem, Abdullah M., Obeid, Makram, Khan, Amjad, Beydoun, Ahmad, Najjar, Marwan, Tajsharghi, Homa, Zifarelli, Giovanni, Bauer, Peter, Hakami, Wejdan S., Al Hashem, Amal M., Boustany, Rose-Mary N., Burglen, Lydie, Alavi, Shahryar, Gunning, Adam C., Owens, Martina, Karimiani, Ehsan G., Gleeson, Joseph G., Milh, Mathieu

المساهمون: Wellcome Trust, King Abdullah International Medical Research Center, Academy of Medical Sciences, UK Research and Innovation Medical Research Council, Newlife The Charity for Disabled Children, Seventh Framework Programme, German Research Foundation

المصدر: Genetics in Medicine ; volume 27, issue 2, page 101278 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1016/j.gim.2024.101278
https://api.elsevier.com/content/article/PII:S1098360024002120?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360024002120?httpAccept=text/plain

المؤلفون: Wasim, Areeba, Al Maawali, Shihab S, AlJabri, Abdulrahman S, Al Amrani, Fatema, Ahmad, Faraz, Mansi, Ahmed, Al Futaisi, Amna

المصدر: Sultan Qaboos University Medical Journal; Online-First ; 2075-0528

وصف الملف: application/pdf

Relation: https://journals.squ.edu.om/index.php/squmj/article/view/6602/4125; https://journals.squ.edu.om/index.php/squmj/article/view/6602

الاتاحة: https://journals.squ.edu.om/index.php/squmj/article/view/6602
https://doi.org/10.18295/squmj.6.2024.031

المؤلفون: Al‐Amrani, Fatema, Al‐Thihli, Khalid, Al‐Ajmi, Eiman, Al‐Futaisi, Amna, Al‐Murshedi, Fathiya

المصدر: JIMD Reports ; volume 65, issue 4, page 212-225 ; ISSN 2192-8312 2192-8312

الاتاحة: http://dx.doi.org/10.1002/jmd2.12425
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12425

المؤلفون: B. Idris, Ahmed, Al-Mamari, Watfa, Al Humaidi, Taif Saud, Al Ma'ashri, Kawther Abdullah, Alhabsi, Ahmed, Jalees, Saquib, Gaber, Ahlam, Al-Jabri, Muna, Islam, M. Mazharul, Al-Futaisi, Amna

المصدر: Global Public Health ; volume 19, issue 1 ; ISSN 1744-1692 1744-1706

الاتاحة: https://doi.org/10.1080/17441692.2024.2381093
https://www.tandfonline.com/doi/pdf/10.1080/17441692.2024.2381093

المؤلفون: Johnstone, Devon L, Al-Shekaili, Hilal H, Tarailo-Graovac, Maja, Wolf, Nicole I, Ivy, Autumn S, Demarest, Scott, Roussel, Yann, Ciapaite, Jolita, van Roermund, Carlo WT, Kernohan, Kristin D, Kosuta, Ceres, Ban, Kevin, Ito, Yoko, McBride, Skye, Al-Thihli, Khalid, Abdelrahim, Rana A, Koul, Roshan, Al Futaisi, Amna, Haaxma, Charlotte A, Olson, Heather, Sigurdardottir, Laufey Yr, Arnold, Georgianne L, Gerkes, Erica H, Boon, M, Heiner-Fokkema, M Rebecca, Noble, Sandra, Bosma, Marjolein, Jans, Judith, Koolen, David A, Kamsteeg, Erik-Jan, Drögemöller, Britt, Ross, Colin J, Majewski, Jacek, Cho, Megan T, Begtrup, Amber, Wasserman, Wyeth W, Bui, Tuan, Brimble, Elise, Violante, Sara, Houten, Sander M, Wevers, Ron A, van Faassen, Martijn, Kema, Ido P, Lepage, Nathalie, Lines, Matthew A, Dyment, David A, Wanders, Ronald JA, Verhoeven-Duif, Nanda, Ekker, Marc, Boycott, Kym M, Friedman, Jan M, Pena, Izabella A, van Karnebeek, Clara DM

المصدر: Brain. 142(3)

مصطلحات موضوعية: Epilepsy, Neurosciences, Brain Disorders, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Animals, Disease Models, Animal, Female, HEK293 Cells, Humans, Male, Phenotype, Proteins, Pyridoxal Phosphate, Pyridoxine, Vitamin B 6, Vitamin B 6 Deficiency, Zebrafish, PLPBP, PROSC, epilepsy, pyridoxine, vitamin B6-responsive epilepsy, Care4Rare Canada Consortium, PLPBP, PROSC, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/235891bk

المؤلفون: Saleh, Khadija, Al-Ajmi, Eiman, Al Futaisi, Amna

المصدر: Sultan Qaboos University Medical Journal; Vol. 23 No. 3 (2023): August; 423-424 ; 2075-0528

وصف الملف: application/pdf

Relation: https://journals.squ.edu.om/index.php/squmj/article/view/5711/3671; https://journals.squ.edu.om/index.php/squmj/article/view/5711

الاتاحة: https://journals.squ.edu.om/index.php/squmj/article/view/5711
https://doi.org/10.18295/squmj.5.2023.024

المؤلفون: Al Amrani, Fatema, Al-Abdwani, Raghad, Al Rashdi, Fatma, Al-Ajmi, Eiman, Al Futaisi, Amna

المصدر: Sultan Qaboos University Medical Journal; Vol. 23 No. 3 (2023): August; 400-404 ; 2075-0528

وصف الملف: application/pdf

Relation: https://journals.squ.edu.om/index.php/squmj/article/view/5093/3475; https://journals.squ.edu.om/index.php/squmj/article/view/5093

الاتاحة: https://journals.squ.edu.om/index.php/squmj/article/view/5093
https://doi.org/10.18295/squmj.5.2022.040

المؤلفون: Al Busaidi, Marwa, Mohamed, Feda E., Al-Ajmi, Eiman, Al Hashmi, Nadia, Al-Thihli, Khalid, Al Futaisi, Amna, Al Mamari, Watfa, Al-Murshedi, Fathiya, Al-Jasmi, Fatma

المساهمون: the technology program management pillar of Abu Dhabi’s Advanced Technology Research Council (ATRC), the ASPIRE

المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-023-02946-5
https://link.springer.com/content/pdf/10.1186/s13023-023-02946-5.pdf
https://link.springer.com/article/10.1186/s13023-023-02946-5/fulltext.html

المؤلفون: Alnaamani, Asia, Ahmad, Faraz, Al-Saadoon, Muna, Rizvi, Syed Gauhar Alam, Al-Futaisi, Amna

المصدر: Journal of Patient-Reported Outcomes ; volume 7, issue 1 ; ISSN 2509-8020

الاتاحة: http://dx.doi.org/10.1186/s41687-023-00555-1
https://link.springer.com/content/pdf/10.1186/s41687-023-00555-1.pdf
https://link.springer.com/article/10.1186/s41687-023-00555-1/fulltext.html

المؤلفون: Al-Amrani, Fatema, Al Rawas, Abdulhakeem, Al-Ajmi, Eiman, Al Futaisi, Amna

المصدر: Frontiers in Neurology ; volume 14 ; ISSN 1664-2295

الاتاحة: http://dx.doi.org/10.3389/fneur.2023.1140732
https://www.frontiersin.org/articles/10.3389/fneur.2023.1140732/full

المؤلفون: Al-Amrani, Fatema, Al-Maawali, Almundher, Al-Thihli, Khalid, Al-Ajmi, Eiman, Ganesh, Anuradha, Al Futaisi, Amna

المصدر: Pediatric Neurology ; volume 148, page 73-80 ; ISSN 0887-8994

الاتاحة: http://dx.doi.org/10.1016/j.pediatrneurol.2023.07.007
https://api.elsevier.com/content/article/PII:S0887899423002163?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0887899423002163?httpAccept=text/plain

المؤلفون: Bashiri, Fahad A., Hundallah, Khaled, Abukhaled, Musaad, Alyahya, Mossaed Mohammed, Al Futaisi, Amna, Alshowaeir, Daniah, Al Tawari, Asmaa, Abdullah, Shaker, Maaz, Ata Ur Rehman, AlShamsi, Eman Taryam, Alshuaibi, Walaa, Alotaibi, Faisal, Aldhalaan, Hesham

المصدر: Frontiers in Oncology; 2024, p1-14, 14p

مصطلحات موضوعية: MITOGEN-activated protein kinases, MEDICAL personnel, SYMPTOM burden, QUALITY of life, GENETIC disorders

المؤلفون: Tábara, Luis Carlos, Al-Salmi, Fatema, Maroofian, Reza, Al-Futaisi, Amna Mohammed, Al-Murshedi, Fathiya, Kennedy, Joanna, Day, Jacob O, Courtin, Thomas, Al-Khayat, Aisha, Galedari, Hamid, Mazaheri, Neda, Protasoni, Margherita, Johnson, Mark, Leslie, Joseph S, Salter, Claire G, Rawlins, Lettie E, Fasham, James, Al-Maawali, Almundher, Voutsina, Nikol, Charles, Perrine, Harrold, Laura, Keren, Boris, Kunji, Edmund RS, Vona, Barbara, Jelodar, Gholamreza, Sedaghat, Alireza, Shariati, Gholamreza, Houlden, Henry, Crosby, Andrew H, Prudent, Julien, Baple, Emma L

مصطلحات موضوعية: TMEM63C, endoplasmic reticulum/ER, hereditary spastic paraplegia/HSP, mitochondria, mitochondria-ER contact sites/MERCs, Calcium Channels, Endoplasmic Reticulum, Humans, Mutation, Spastic Paraplegia, Hereditary

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/335811

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/335811
https://doi.org/10.17863/CAM.83247

المؤلفون: Tabara, Luis Carlos, Al-Salmi, Fatema, Maroofian, Reza, Al-Futaisi, Amna Mohammed, Al-Murshedi, Fathiya, Kennedy, Joanna, Day, Jacob O, Courtin, Thomas, Al-Khayat, Aisha, Galedari, Hamid, Mazaheri, Neda, Protasoni, Margherita, Johnson, Mark, Leslie, Joseph S, Salter, Claire G, Rawlins, Lettie E, Fasham, James, Al-Maawali, Almundher, Voutsina, Nikol, Charles, Perrine, Harrold, Laura, Keren, Boris, Kunji, Edmund RS, Vona, Barbara, Jelodar, Gholamreza, Sedaghat, Alireza, Shariati, Gholamreza, Houlden, Henry, Crosby, Andrew H, Prudent, Julien, Baple, Emma L

المصدر: Brain , 145 (10) , Article E103. (2022)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10160340/1/Houlden_TMEM63C%20mutations%20cause%20mitochondrial%20morphology%20defects%20and%20underlie%20hereditary%20spastic%20paraplegia_correction_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10160340/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10160340/1/Houlden_TMEM63C%20mutations%20cause%20mitochondrial%20morphology%20defects%20and%20underlie%20hereditary%20spastic%20paraplegia_correction_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10160340/

المؤلفون: Al-Kasbi, Ghalia, Al-Murshedi, Fathiya, Al-Kindi, Adila, Al-Hashimi, Nadia, Al-Thihli, Khalid, Al-Saegh, Abeer, Al-Futaisi, Amna, Al-Mamari, Watfa, Al-Asmi, Abdullah, Bruwer, Zandre, Al-Kharusi, Khalsa, Al-Rashdi, Samiya, Zadjali, Fahad, Al-Yahyaee, Said, Al-Maawali, Almundher

المساهمون: Sultan Qaboos University

المصدر: Scientific Reports ; volume 12, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-022-22036-z
https://www.nature.com/articles/s41598-022-22036-z.pdf
https://www.nature.com/articles/s41598-022-22036-z

المؤلفون: Zadjali, Fahad, Al-Futaisi, Amna, Al-Hosni, Amira, Al-Huseini, Salim, Crommelin, Maarten, Mirza, Hassan

المصدر: International Journal of Public Health ; volume 67 ; ISSN 1661-8564

الاتاحة: http://dx.doi.org/10.3389/ijph.2022.1604474
https://www.ssph-journal.org/articles/10.3389/ijph.2022.1604474/full

المؤلفون: Alsaffar, Hussain, Almamari, Watfa, Al Futaisi, Amna

المصدر: Sultan Qaboos University Medical Journal; Vol. 20 No. 4 (2020): November; e277-279 ; 2075-0528

وصف الملف: application/pdf

Relation: https://journals.squ.edu.om/index.php/squmj/article/view/3934/2973; https://journals.squ.edu.om/index.php/squmj/article/view/3934

الاتاحة: https://journals.squ.edu.om/index.php/squmj/article/view/3934
https://doi.org/10.18295/squmj.2020.20.04.001

المؤلفون: Al Kalbani, Faris, Ahmad, Faraz, Elmanzalawy, Alaa, Al Futaisi, Amna

المصدر: Sultan Qaboos University Medical Journal [SQUMJ]; Vol 20, No 2 (2020): May; e231–233 ; 2075-0528 ; 2075-051X

وصف الملف: application/pdf

Relation: https://journals.squ.edu.om/index.php/squmj/article/view/3674/2886; https://journals.squ.edu.om/index.php/squmj/article/view/3674

الاتاحة: https://journals.squ.edu.om/index.php/squmj/article/view/3674
https://doi.org/10.18295/squmj.2020.20.02.016

المؤلفون: Johnstone, Devon L, Al-Shekaili, Hilal H, Tarailo-Graovac, Maja, Wolf, Nicole I, Ivy, Autumn S, Demarest, Scott, Roussel, Yann, Ciapaite, Jolita, van Roermund, Carlo W T, Kernohan, Kristin D, Kosuta, Ceres, Ban, Kevin, Ito, Yoko, McBride, Skye, Al-Thihli, Khalid, Abdelrahim, Rana A, Koul, Roshan, Al Futaisi, Amna, Haaxma, Charlotte A, Olson, Heather, Sigurdardottir, Laufey Yr, Arnold, Georgianne L, Gerkes, Erica H, Boon, M, Heiner-Fokkema, M Rebecca, Noble, Sandra, Bosma, Marjolein, Jans, Judith, Koolen, David A, Kamsteeg, Erik-Jan, Drögemöller, Britt, Ross, Colin J, Majewski, Jacek, Cho, Megan T, Begtrup, Amber, Wasserman, Wyeth W, Bui, Tuan, Brimble, Elise, Violante, Sara, Houten, Sander M, Wevers, Ron A, van Faassen, Martijn, Kema, Ido P, Lepage, Nathalie, Lines, Matthew A, Dyment, David A, Wanders, Ronald J A, Verhoeven-Duif, Nanda, Ekker, Marc, Boycott, Kym M

المصدر: Care4Rare Canada Consortium , Johnstone , D L , Al-Shekaili , H H , Tarailo-Graovac , M , Wolf , N I , Ivy , A S , Demarest , S , Roussel , Y , Ciapaite , J , van Roermund , C W T , Kernohan , K D , Kosuta , C , Ban , K , Ito , Y , McBride , S , Al-Thihli , K , Abdelrahim , R A , Koul , R , Al Futaisi , A , Haaxma , C A , Olson , H , Sigurdardottir , L Y ....

الاتاحة: https://hdl.handle.net/11370/22d49692-aae9-4ec0-995a-7b82114bc30c
https://research.rug.nl/en/publications/22d49692-aae9-4ec0-995a-7b82114bc30c
https://doi.org/10.1093/brain/awy346
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391652

المؤلفون: Perenthaler, Elena, Nikoncuk, Anita, Yousefi, Soheil, Berdowski, Woutje M., Alsagob, Maysoon, Capo, Ivan, van der Linde, Herma C., van den Berg, Paul, Jacobs, Edwin H., Putar, Darija, Ghazvini, Mehrnaz, Aronica, Eleonora, van IJcken, Wilfred F. J., de Valk, Walter G., Medici-van den Herik, Evita, van Slegtenhorst, Marjon, Brick, Lauren, Kozenko, Mariya, Kohler, Jennefer N., Bernstein, Jonathan A., Monaghan, Kristin G., Begtrup, Amber, Torene, Rebecca, Al Futaisi, Amna, Al Murshedi, Fathiya, Mani, Renjith, Al Azri, Faisal, Kamsteeg, Erik-Jan, Mojarrad, Majid, Eslahi, Atieh, Khazaei, Zaynab, Darmiyan, Fateme Massinaei, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Vandrovcova, Jana, Zafar, Faisal, Rana, Nuzhat, Kandaswamy, Krishna K., Hertecant, Jozef, Bauer, Peter, AlMuhaizea, Mohammed A., Salih, Mustafa A., Aldosary, Mazhor, Almass, Rawan, Al-Quait, Laila, Qubbaj, Wafa, Coskun, Serdar, Alahmadi, Khaled O., Hamad, Muddathir H. A., Alwadaee, Salem

المساهمون: ZonMW Veni, Brain and Behavior Research Foundation

المصدر: Acta Neuropathologica ; volume 139, issue 3, page 415-442 ; ISSN 0001-6322 1432-0533

الاتاحة: http://dx.doi.org/10.1007/s00401-019-02109-6
http://link.springer.com/content/pdf/10.1007/s00401-019-02109-6.pdf
http://link.springer.com/article/10.1007/s00401-019-02109-6/fulltext.html