Effectiveness of intra-thecal methotrexate in refractory Anti-N-methyl-d-aspartate receptor encephalitis
Hommady, Raid, Alsohibani, Abdullah, Alayed, Ruba, Alshehri, Abdulaziz, AbuMelha, Ahlam, Aljomah, Lama, Hundallah, Khalid, Almuqbil, Mohammed, Altuwaijri, Waleed, Alrumayyan, Ahmad, Alrifai, Muhammad Talal, Baarmah, Duaa Mohammed
Published in BMC neurology (07.07.2023)
Published in BMC neurology (07.07.2023)
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Journal Article
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy
Ahmed, Ashfaque, Wang, Meng, Bergant, Gaber, Maroofian, Reza, Zhao, Rongjuan, Alfadhel, Majid, Nashabat, Marwan, AlRifai, Muhammad Talal, Eyaid, Wafaa, Alswaid, Abdulrahman, Beetz, Christian, Qin, Yan, Zhu, Tengfei, Tian, Qi, Xia, Lu, Wu, Huidan, Shen, Lu, Dong, Shanshan, Yang, Xinyi, Liu, Cenying, Ma, Linya, Zhang, Qiumeng, Khan, Rizwan, Shah, Abid Ali, Guo, Jifeng, Tang, Beisha, Leonardis, Lea, Writzl, Karin, Peterlin, Borut, Guo, Hui, Malik, Sajid, Xia, Kun, Hu, Zhengmao
Published in Human genetics (01.04.2021)
Published in Human genetics (01.04.2021)
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Journal Article
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans
Alfadhel, Majid, Nashabat, Marwan, Qahtani, Hanan Al, Alfares, Ahmed, Mutairi, Fuad Al, Shaalan, Hesham Al, Douglas, Ganka V., Wierenga, Klaas, Juusola, Jane, Alrifai, Muhammad Talal, Arold, Stefan T., Alkuraya, Fowzan, Ali, Qais Abu
Published in Human genetics (01.11.2016)
Published in Human genetics (01.11.2016)
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Journal Article
Pediatrics COVID-19 and neurological manifestations: Single tertiary centre experience
Aljomah, Lama, Almedlej, Sara, Baarmah, Duaa, Altwaijri, Waleed, Alrumayyan, Ahmad, Alrifai, Muhammad Talal, Almuqbil, Mohammed, Alshalaan, Mohammad
Published in eNeurologicalSci (01.09.2021)
Published in eNeurologicalSci (01.09.2021)
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Journal Article
Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype
Al Tuwaijri, Abeer, Alyafee, Yusra, Umair, Muhammad, Alsubait, Arwa, Alharbi, Mashael, AlEidi, Hamad, Ballow, Mariam, Aldrees, Mohammed, Alam, Qamre, Al Abdulrahman, Abdulkareem, Alrifai, Muhammad Talal, Alfadhel, Majid
Published in Molecular genetics & genomic medicine (01.04.2023)
Published in Molecular genetics & genomic medicine (01.04.2023)
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Journal Article
Acute Necrotizing Encephalopathy of Childhood: A Multicenter Experience in Saudi Arabia
Bashiri, Fahad A., Al Johani, Sultan, Hamad, Muddathir H., Kentab, Amal Y., Alwadei, Ali H., Hundallah, Khalid, Hasan, Hamdi H., Alshuaibi, Walaa, Jad, Lamyaa, Alrifai, Muhammad Talal, Hudairi, Abrar, Al Sheikh, Rana, Alenizi, Asma'a, Alharthi, Nawaf A., Abdelmagid, Tayseer A., Ba-Armah, Duaa, Salih, Mustafa A., Tabarki, Brahim
Published in Frontiers in pediatrics (09.10.2020)
Published in Frontiers in pediatrics (09.10.2020)
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Journal Article
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data
Alfadhel, Majid, Almuqbil, Mohammed, Al Mutairi, Fuad, Umair, Muhammad, Almannai, Mohammed, Alghamdi, Malak, Althiyab, Hamad, Albarakati, Rayyan, Bashiri, Fahad A., Alshuaibi, Walaa, Ba-Armah, Duaa, Saleh, Mohammed A., Al-Asmari, Ali, Faqeih, Eissa, Altuwaijri, Waleed, Al-Rumayyan, Ahmed, Balwi, Mohammed Ali, Ababneh, Faroug, Alswaid, Abdulrahman Faiz, Eyaid, Wafaa M., Almontashiri, Naif A. M., Alhashem, Amal, Hundallah, Khalid, Bertoli-Avella, Aida, Bauer, Peter, Beetz, Christian, Alrifai, Muhammad Talal, Alfares, Ahmed, Tabarki, Brahim
Published in Frontiers in pediatrics (13.05.2021)
Published in Frontiers in pediatrics (13.05.2021)
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Journal Article
Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4
Alsahli, Saud, Alrifai, Muhammad Talal, Al Tala, Saeed, Mutairi, Fuad Al, Alfadhel, Majid
Published in Journal of central nervous system disease (2018)
Published in Journal of central nervous system disease (2018)
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Journal Article
Retrospective review of pediatric status epilepticus in 116 Saudi patients: predictors of outcome
Hommady, Raid Harb, Alrifai, Muhammad Talal, Mubayrik, Osama Khaled, Alayed, Ruba Salem, Alsemari, Muhannad Abdulrahman, Arumayyan, Ahmed, Altuwaijri, Waleed, Baarmah, Duaa
Published in Annals of Saudi medicine (01.11.2017)
Published in Annals of Saudi medicine (01.11.2017)
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Journal Article
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay
Umair, Muhammad, Ballow, Mariam, Asiri, Abdulaziz, Alyafee, Yusra, Tuwaijri, Abeer, Alhamoudi, Kheloud M., Aloraini, Taghrid, Abdelhakim, Marwa, Althagafi, Azza Thamer, Kafkas, Senay, Alsubaie, Lamia, Alrifai, Muhammad Talal, Hoehndorf, Robert, Alfares, Ahmed, Alfadhel, Majid
Published in Clinical genetics (01.12.2020)
Published in Clinical genetics (01.12.2020)
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Journal Article
Genomic testing and counseling: The contribution of next‐generation sequencing to epilepsy genetics
Alsubaie, Lamia, Aloraini, Taghrid, Amoudi, Manal, Swaid, Abdulrahman, Eyiad, Wafaa, Al Mutairi, Fuad, Ababneh, Farouq, Alrifai, Muhammad Talal, Baarmah, Duaa, Altwaijri, Waleed, Alotaibi, Naser, Harthi, Ashraf, Rumayyan, Ahmad, Alanazi, Ali, Qrimli, Mohammad, Alfadhel, Majid, Alfares, Ahmed
Published in Annals of human genetics (01.11.2020)
Published in Annals of human genetics (01.11.2020)
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Journal Article
Clinical Characteristics and Risk Factors of Neonatal Hypoxic-Ischaemic Encephalopathy and Its Associated Neurodevelopmental Outcomes During the First Two Years of Life: A Retrospective Study in Saudi Arabia
AlMuqbil, Mohammed, Alanazi, Jawaher, Alsaif, Nada, Baarmah, Duaa, Altwaijri, Waleed, Alrumayyan, Ahmad, Alrifai, Muhammad Talal, Othman, Fatmah, Al-Shehri, Hassan, Alsaif, Saif
Published in International journal of general medicine (01.01.2023)
Published in International journal of general medicine (01.01.2023)
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Journal Article
Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases
Alfadhel, Majid, Nashabat, Marwan, Alrifai, Muhammad Talal, Alshaalan, Hesham, Al Mutairi, Fuad, Al-Shahrani, Saif A., Plecko, Barbara, Almass, Rawan, Alsagob, Maysoon, Almutairi, Faten B., Al-Rumayyan, Ahmed, Al-Twaijri, Waleed, Al-Owain, Mohammed, Taylor, Robert W., Kaya, Namik
Published in European journal of paediatric neurology (01.01.2018)
Published in European journal of paediatric neurology (01.01.2018)
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Journal Article
Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism
Alfadhel, Majid, Alrifai, Muhammad Talal, Trujillano, Daniel, Alshaalan, Hesham, Al Othaim, Ali, Al Rasheed, Shatha, Assiri, Hussam, Alqahtani, Abdulrhman A., Alaamery, Manal, Rolfs, Arndt, Eyaid, Wafaa
Published in JIMD Reports, Volume 22 (01.01.2015)
Published in JIMD Reports, Volume 22 (01.01.2015)
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Book Chapter
Journal Article