Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene | Acta Neuropathologica Communications | Full Text

Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene | Acta Neuropathologica Communications | Full Text

Acta Neuropathologica Communications

Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene

Variations in the POLG1 gene encoding the catalytic subunit of the mitochondrial DNA polymerase gamma, have recently been associated with Parkinson’s disease (PD), especially in patients diagnosed with progres...

Authors:Margarita Chumarina, Kaspar Russ, Carla Azevedo, Andreas Heuer, Maria Pihl, Anna Collin, Eleonor Åsander Frostner, Eskil Elmer, Poul Hyttel, Graziella Cappelletti, Michela Zini, Stefano Goldwurm and Laurent Roybon

Citation:Acta Neuropathologica Communications 2019 7:208

Content type:Case report

Published on: 16 December 2019

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