ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Desai, Radha ; Frazier, Ann E ; Durigon, Romina ; Patel, Harshil ; Jones, Aleck W ; Dalla Rosa, Ilaria ; Lake, Nicole J ; Compton, Alison G ; Mountford, Hayley S ; Tucker, Elena J ; Mitchell, Alice L R ; Jackson, Deborah ; Sesay, Abdul ; Di Re, Miriam ; van den Heuvel, Lambert P ; Burke, Derek ; Francis, David ; Lunke, Sebastian ; McGillivray, George ; Mandelstam, Simone ; Mochel, Fanny ; Keren, Boris ; Jardel, Claude ; Turner, Anne M ; Ian Andrews, P ; Smeitink, Jan ; Spelbrink, Johannes N ; Heales, Simon J ; Kohda, Masakazu ; Ohtake, Akira ; Murayama, Kei ; Okazaki, Yasushi ; Lombès, Anne ; Holt, Ian J ; Thorburn, David R ; Spinazzola, Antonella

Brain (London, England : 1878), 2017-06, Vol.140 (6), p.1595-1610 [Revista revisada por pares]

England: Oxford University Press

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