A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia

por Zierz, Charlotte M., Baty, Karen, Blakely, Emma L., Hopton, Sila, Falkous, Gavin, Schaefer, Andrew M., Hadjivassiliou, Marios, Sarrigiannis, Ptolemaios G., Ng, Yi Shiau, Taylor, Robert W.
Publicado 2019

Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease

por Rosenberger, Florian A, Tang, Jia Xin, Sergeant, Kate, Moedas, Marco F, Zierz, Charlotte M, Moore, David, Smith, Conrad, Lewis, David, Guha, Nishan, Hopton, Sila, Falkous, Gavin, Lam, Amanda, Pyle, Angela, Poulton, Joanna, Gorman, Gráinne S, Taylor, Robert W, Freyer, Christoph, Wredenberg, Anna
Publicado 2022