Loss-of-function of AMFR causes autosomal recessive hereditary spastic paraplegia by altering lipid metabolism
Ruizhi Deng,Eva Medico Salsench,Anita Nikoncuk, Niko Kuhn,Reshmi Ramakrishnan,Kristina Lanko,Leslie Sanderson,Herma C. van der Linde,Soheil Yousefi,Ivan Capo, Evita Medici van den Herik,Marjon van Slegtenhorst,Rick van Minkelen,Rob Willemsen,Walter de Valk,Geert Geeven,Kay Metcalfe,Lenika De Simone,Nancy Kuntz,Arjan Bouman,Lies Hoefsloot,Maha Zaki,Joseph Gleeson,Stefan T. Arold,Tjakko Van Ham, Reza Maroofian,Stefan Barakat EUROPEAN JOURNAL OF HUMAN GENETICS(2023)
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