Zobrazeno 1 - 10 of 15 pro vyhledávání: '"Ali Al-Asmari"'
1
Akademický článek
Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia
Autor: Mohamed H. Al-Hamed, Faiqa Imtiaz, Zuhair Al-Hassnan, Mohammed Al-Owain, Hamad Al-Zaidan, Mohamed S. Alamoudi, Eissa Faqeih, Majid Alfadhel, Ali Al-Asmari, M.M. Saleh, Fuad Almutairi, Nabil Moghrabi, Moeenaldeen AlSayed
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 18, Iss , Pp 22-29 (2019)
Propionic acidemia (PA) is an autosomal recessive metabolic disorder. PA is characterized by deficiency of the mitochondrial enzyme propionyl CoA carboxylase (PCC) that results in the accumulation of propionic acid. Alpha and beta subunits of the PCC
Externí odkaz: https://doaj.org/article/e4d3b555004a4155984385b9f00e4931
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2
Akademický článek
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data
Autor: Majid Alfadhel, Mohammed Almuqbil, Fuad Al Mutairi, Muhammad Umair, Mohammed Almannai, Malak Alghamdi, Hamad Althiyab, Rayyan Albarakati, Fahad A. Bashiri, Walaa Alshuaibi, Duaa Ba-Armah, Mohammed A. Saleh, Ali Al-Asmari, Eissa Faqeih, Waleed Altuwaijri, Ahmed Al-Rumayyan, Mohammed Ali Balwi, Faroug Ababneh, Abdulrahman Faiz Alswaid, Wafaa M. Eyaid, Naif A. M. Almontashiri, Amal Alhashem, Khalid Hundallah, Aida Bertoli-Avella, Peter Bauer, Christian Beetz, Muhammad Talal Alrifai, Ahmed Alfares, Brahim Tabarki
Publikováno v: Frontiers in Pediatrics, Vol 9 (2021)
Background: Leukodystrophies (LDs) are inherited heterogeneous conditions that affect the central nervous system with or without peripheral nerve involvement. They are individually rare, but collectively, they are common. Thirty disorders were includ
Externí odkaz: https://doaj.org/article/16784d501eb142d69ee3665c6c73dd51
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3
Akademický článek
Antimicrobial and antioxidant potential of the silver nanoparticles synthesized using aqueous extracts of coconut meat (Cocos nucifera L)
Autor: Humaira Rizwana, Reem M. Aljowaie, Fatimah Al Otibi, Mona S. Alwahibi, Saleh Ali Alharbi, Saeed Ali Al asmari, Noura S. Aldosari, Horiah A. Aldehaish
Publikováno v: Scientific Reports, Vol 13, Iss 1, Pp 1-20 (2023)
Abstract Human pathogenic fungi and bacteria pose a huge threat to human life, accounting for high rates of mortality every year. Unfortunately, the past few years have seen an upsurge in multidrug resistance pathogens. Consequently, finding an effec
Externí odkaz: https://doaj.org/article/67052eb12707404ba4885f1bc22cde8b
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7
Development of simple and effective PCR based assay to detect
Autor: Ali, Al-Asmari, Abdul Ali, Peer-Zada, Abdulwahed, AlDehaimi, Constantin, Polychronakos, Aziz A, Chentoufi
Publikováno v: Saudi journal of biological sciences. 29(12)
The aim of this study is to develop a rapid and effective method to screen for Saudi carriers of one of the most common propionic acidemia mutations (c.425G A) and to study the functional impact of this mutation. Using allele-specific primers, we hav
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2383e0d8295e50df9a23af0a8600f0ae
https://pubmed.ncbi.nlm.nih.gov/36211601
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8
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Autor: Ali Al Asmari, Emmanuelle Szenker-Ravi, Carine Bonnard, Bruno Reversade, Laura Schultz-Rogers, I. Kraegeloh-Mann, Maha Abdulrahim, Hesham Aldhalaan, Byrappa Venkatesh, Célia Bosso-Lefèvre, Aida Telegrafi, Hiyam M. Marzouqa, Gunaseelan Narayanan, Sha Tang, Sonal Mahida, Melanie A. Simpson, Fowzan S. Alkuraya, Michelle Eio, Eissa Faqeih, Renske Oegema, Sarah Weckhuysen, George Grady, Joseph J. Barycki, Mohammed Al-Owain, Lamyaa A. Jad, David A. Koolen, Marjon van Slegtenhorst, Tyler Mark Pierson, Marisa V. Andrews, Rebecca Schüle, Reinhard Keimer, Amber Begtrup, Sateesh Maddirevula, Michael Muriello, Sakkubai Naidu, Damien Haye, Adel A H Mahmoud, Brian Ciruna, Abdullah Tamim, Thong Teck Tan, Rolph Pfundt, Peter Bauer, Jiin Ying Lim, Ali Awaji, Marco Tartaglia, Meral Gunay-Aygun, Eric W. Klee, Marcia C. Willing, Monica Yau, Angelika Riess, Diego Martinelli, Sabina Barresi, Sumanty Tohari, Werner Deigendesch, Dirk Lefeber, Saumya Shekhar Jamuar, Ludger Schöls, Ralitza H. Gavrilova, Alvin Yu Jin Ng, Hannah Stamberger, Suleyman Gulsuner, Adam Claridge-Chang, Élise Lebigot, Moeenaldeen Al-Sayed, Ee Shien Tan, Kagistia Hana Utami, Sarah B. Pierce, Helene Verhelst, Hankun Li, James C. Stewart, Ingo Helbig, Tal Gilboa, Mahmoud A. Pouladi, Hagar Mor-Shaked, Boris Keren, Ajay S. Mathuru, Holger Hengel, Michèl A.A.P. Willemsen, Nader Handal, Tahsin Stefan Barakat, Sulwan M. Algain, Terrence Thomas, Lance H. Rodan, Mais Hashem, Wendy G. Mitchell
Publikováno v: Nature communications, 11(1):595. Nature Publishing Group
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Nature Communications, 11. Nature Publishing Group
Nature Communications, 11
Nature communications, vol 11, iss 1
Nature Communications 11(1), 595 (2020). doi:10.1038/s41467-020-14360-7
Nature Communications, 11, 1
Nature communications
Nature Communications
NATURE COMMUNICATIONS
Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an allelic series of germline recessive mutations in UGDH in 36 cases from 25 families present
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73c2c7e1b70693539f410e6b9be36256
https://pure.amc.nl/en/publications/lossoffunction-mutations-in-udpglucose-6dehydrogenase-cause-recessive-developmental-epileptic-encephalopathy(de2b99fa-dd10-4646-ac5b-a67868b9e177).html
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