Biallelic variation in the choline and ethanolamine transporter <i>FLVCR1</i> underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

Daniel G. Calame, Reza Boostani(Mashhad University of Medical Sciences), Timothy Lotze(Baylor College of Medicine), Majid Ghasemi(Isfahan University of Medical Sciences), Sylvia Safwat(Rutgers, The State University of New Jersey), Zahra Firoozfar, Subhadra Ramanathan(Loma Linda University), Kyle P. Flannery(Johnson University), Zain Dardas(Baylor College of Medicine), Amir Bahreini(University of Pittsburgh), Dana Marafi(Baylor College of Medicine), Stéphanie Efthymiou(Istituto Giannina Gaslini), Vykuntaraju K. Gowda(Indira Gandhi Institute of Child Health), Kerby C. Oberg(Loma Linda University), Robin D. Clark(Loma Linda University Children's Hospital), Nourelhoda A. Haridy(Assiut University), Jawid M. Fatih(Baylor College of Medicine), David Murphy(National Hospital for Neurology and Neurosurgery), Brianna Rezich(Nebraska Medical Center), Isabella Herman(Texas Children's Hospital), Varun Kannan(Baylor College of Medicine), Tazeen Ashraf(Guy's and St Thomas' NHS Foundation Trust), Jill A. Rosenfeld(Baylor College of Medicine), Chaya N. Murali(Baylor College of Medicine), Lama AlAbdi(King Faisal Specialist Hospital & Research Centre), Sedat Işıkay(Gaziantep İslam Bilim ve Teknoloji Üniversitesi), Shereen Tadros(Great Ormond Street Hospital for Children NHS Foundation Trust), Zeynep Coban‐Akdemir(Baylor College of Medicine), Hamid Reza Goldouzi(Mashhad University of Medical Sciences), Varunvenkat M. Srinivasan(Indira Gandhi Institute of Child Health), Nancy C.P. Leong(National University of Singapore), Ehsan Ghayoor Karimiani(Manchester Academic Health Science Centre), Fatemeh Eghbal, Shalini N. Jhangiani(Texas Biomedical Research Institute), Lance H. Rodan(Boston Children's Hospital), Sam Loughlin(Great Ormond Street Hospital for Children NHS Foundation Trust), Mohamed S. Abdel‐Hamid(National Research Centre), Michael Staton(Loma Linda University), Shahryar Alavi(National Hospital for Neurology and Neurosurgery), Haowei Du(Baylor College of Medicine), Alison Male(Great Ormond Street Hospital), Ramy Saad(Great Ormond Street Hospital for Children NHS Foundation Trust), Catharina Wenman(Great Ormond Street Hospital for Children NHS Foundation Trust), Sohil G Patankar(Massachusetts Eye and Ear Infirmary), Farah Ammouri(Boys Town), Dat Nguyen(National University of Singapore), Jovi Huixin Wong(National University of Singapore), Riccardo Sangermano(Radboud University Nijmegen), Puravi Panda(National University of Singapore), Mahya Ebrahimi Nasab(Yazd University)
medRxiv
February 13, 2024
Cited by 2


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