Biallelic <i>BORCS8</i> variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics

Raffaella De Pace(Eunice Kennedy Shriver National Institute of Child Health and Human Development), Juan S. Bonifacino(National Institutes of Health), Maha S. Zaki(National Research Centre), Adeline Paimboeuf(Institut National de la Recherche Scientifique), Isabelle Thiffault(Children's Mercy Hospital), Mina Zamani(Shahid Chamran University of Ahvaz), Mohnish Suri(Nottingham University Hospitals NHS Trust), Giovanni Zifarelli(Centogene (Germany)), Hamid Galehdari(Shahid Chamran University of Ahvaz), Shunmoogum A. Patten(Institut National de la Recherche Scientifique), Emmanuel Roze(Centre National de la Recherche Scientifique), Saeid Sadeghian(Ahvaz Jundishapur University of Medical Sciences), Chad D. Williamson(National Institutes of Health), Emily Farrow(Children's Mercy Hospital), Mariasavina Severino(Istituto Giannina Gaslini), Jawaher Zeighami, Jennifer Gannon(Children's Mercy Hospital), Reza Azizi Malamiri(Ahvaz Jundishapur University of Medical Sciences), Henry Houlden(University College London), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Dihong Zhou(Children's Mercy Hospital), Peter Bauer(Centogene (Germany)), Emily Fleming(Children's Mercy Hospital)
Brain
December 21, 2023
Cited by 23


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