نتائج البحث - Mohammed Almannai

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  1. 1
    Arginine and Citrulline for the Treatment of MELAS Syndrome

    Arginine and Citrulline for the Treatment of MELAS Syndrome حسب Ayman W. El‐Hattab, Mohammed Almannai, Fernando Scaglia

    منشور في 2017
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    Artigo
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  2. 2
    Carnitine Inborn Errors of Metabolism

    Carnitine Inborn Errors of Metabolism حسب Mohammed Almannai, Majid Alfadhel, Ayman W. El‐Hattab

    منشور في 2019
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  3. 3
    Therapies for mitochondrial diseases and current clinical trials

    Therapies for mitochondrial diseases and current clinical trials حسب Ayman W. El‐Hattab, Ana María Zarante, Mohammed Almannai, Fernando Scaglia

    منشور في 2017
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  4. 4
    Clinical trials in mitochondrial disorders, an update

    Clinical trials in mitochondrial disorders, an update حسب Mohammed Almannai, Ayman W. El‐Hattab, M. Nadir Ali, Claudia Soler‐Alfonso, Fernando Scaglia

    منشور في 2020
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  5. 5
    Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation

    Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation حسب Ayman W. El‐Hattab, Lisa Emrick, Jean W. Hsu, Sirisak Chanprasert, Mohammed Almannai, William J. Craigen, Farook Jahoor, Fernando Scaglia

    منشور في 2016
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  6. 6
    <i>MPV17</i>-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

    <i>MPV17</i>-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects حسب Ayman W. El‐Hattab, Julia Wang, Hongzheng Dai, Mohammed Almannai, Christian Staufner, Majid Alfadhel, Michael J. Gambello, Pankaj Prasun, Saleem Raza, Hernando Lyons, Manal Afqi, Mohammed A. Saleh, Eissa Faqeih, Hamad Alzaidan, Abduljabbar Alshenqiti, Leigh Anne Flore, Jozef Hertecant, Stephanie Sacharow, Deborah Barbouth, Kei Murayama, Amit A. Shah, Henry C. Lin, Lee-Jun Wong

    منشور في 2017
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  7. 7
    Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

    Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation حسب Kezhi Yan, Justine Rousseau, Rebecca O. Littlejohn, Courtney Kiss, Anna Lehman, Jill A. Rosenfeld, Constance T. R. M. Stumpel, Alexander P.A. Stegmann, Laurie Robak, Fernando Scaglia, Thi Tuyet Mai Nguyen, He Fu, Norbert Fonya Ajeawung, Maria Vittoria Camurri, Lin Li, Alice Gardham, Bianca Panis, Mohammed Almannai, María J. Guillen Sacoto, Berivan Baskin, Claudia Ruivenkamp, Fan Xia, Weimin Bi, Megan T. Cho, Thomas P. Potjer, Gijs W.E. Santen, Michael Parker, Natalie Canham, Margaret L. McKinnon, Lorraine Potocki, Jennifer MacKenzie, Elizabeth Roeder, Philippe M. Campeau, Xiang-Jiao Yang

    منشور في 2016
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  8. 8
    THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

    THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder حسب Martin Broly, Bogdan Polevoda, Kamel Awayda, Ning Tong, Jenna M. Lentini, Thomas Besnard, Wallid Deb, Declan O’Rourke, Júlia Baptista, Sian Ellard, Mohammed Almannai, Mais Hashem, Ferdous Abdulwahab, Hanan E. Shamseldin, Saeed M Al-Tala, Fowzan S. Alkuraya, A. S. Leon, Rosa Laura E. van Loon, Alessandra Ferlini, Mariabeatrice Sanchini, Stefania Bigoni, Andrea Ciorba, Hans van Bokhoven, Zafar Iqbal, Almundher Al‐Maawali, Fathiya Al-Murshedi, Anuradha Ganesh, Watfa Al‐Mamari, Sze Chern Lim, Lynn Pais, Natasha J. Brown, Saima Riazuddin, Stéphane Bézieau, Dragony Fu, Bertrand Isidor, Benjamin Cogné, Mitchell R. O’Connell

    منشور في 2022
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  9. 9
    Molecular and clinical spectra of FBXL4 deficiency

    Molecular and clinical spectra of FBXL4 deficiency حسب Ayman W. El‐Hattab, Hongzheng Dai, Mohammed Almannai, Julia Wang, Eissa Faqeih, Ali Al Asmari, Mohammed A. Saleh, Mohammed Elamin, Majid Alfadhel, Fowzan S. Alkuraya, Mais Hashem, Mazhor Aldosary, Rawan Almass, Faten Almutairi, Maysoon Alsagob, Mohammed Al‐Owain, Shirin Al-Sharfa, Zuhair N. Al‐Hassnan, Zuhair Rahbeeni, Mohammad A. Al–Muhaizea, Nawal Makhseed, Gretchen Kissel Foskett, David A. Stevenson, Natalia Gomez‐Ospina, Chung Lee, Richard G. Boles, Samantha A. Schrier Vergano, Saskia B. Wortmann, Wolfgang Sperl, Thomas Opladen, Georg F. Hoffmann, Maja Hempel, Holger Prokisch, Bader Alhaddad, Johannes A. Mayr, Wenyaw Chan, Namik Kaya, Lee‐Jun C. Wong

    منشور في 2017
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  10. 10
    SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

    SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals حسب Bobby G. Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A. Bacino, Rita Barone, Lorenzo D. Botto, Jennifer Burton, Colleen M. Carlston, Brian Hon‐Yin Chung, Julie S. Cohen, David Coman, Katrina M. Dipple, Naghmeh Dorrani, William B. Dobyns, Abdallah F. Elias, Leon G. Epstein, William A. Gahl, Domenico Garozzo, Trine Bjørg Hammer, Jaclyn Haven, Delphine Héron, Matthew Herzog, George Hoganson, Jesse M. Hunter, Mahim Jain, Jane Juusola, Shenela Lakhani, Hane Lee, Joy Lee, Cathryn M. Lewis, Nicola Longo, Charles Marques Lourenço, Christopher Chun Yu Mak, Dianalee McKnight, Bryce A. Mendelsohn, Cyril Mignot, Ghayda Mirzaa, Wendy G. Mitchell, Hiltrud Muhle, Stanley F. Nelson, Mariusz Olczak, Christina G.S. Palmer, Arthur Partikian, Marc C. Patterson, Tyler Mark Pierson, Shane C. Quinonez, Brigid M. Regan, M. Elizabeth Ross, María J. Guillen Sacoto, Fernando Scaglia, Ingrid E. Scheffer, Devorah Segal, Nilika S. Singhal, Pasquale Striano, Luisa Sturiale, Joseph D. Symonds, Sha Tang, Éric Vilain, Mary Willis, Lynne A. Wolfe, Hui Yang, Shoji Yano, Zöe Powis, Sharon F. Suchy, Jill A. Rosenfeld, Andrew C. Edmondson, Stephanie Grünewald, Hudson H. Freeze

    منشور في 2019
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