polg mutation
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N-acetylcysteine amide ameliorates mitochondrial dysfunction and reduces oxidative stress in hiPSC-derived dopaminergic neurons with POLG mutation

2020 ◽  
pp. 113536
Author(s):  
Kristina Xiao Liang ◽  
Guro Helén Vatne ◽  
Cecilie Katrin Kristiansen ◽  
Oleksandr Ievglevskyi ◽  
Elena Kondratskaya ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Mitochondrial Dysfunction ◽  
Dopaminergic Neurons ◽  
Polg Mutation

scholarly journals Ketogenic diet in a patient with refractory status epilepticus due to POLG mutation

JIMD Reports ◽  
2020 ◽  
Author(s):  
Miriam Koessler ◽  
Edda Haberlandt ◽  
Daniela Karall ◽  
Matthias Baumann ◽  
Alexander Höller ◽  
...  
Keyword(s):  
Status Epilepticus ◽  
Ketogenic Diet ◽  
Refractory Status Epilepticus ◽  
Refractory Status ◽  
Polg Mutation

scholarly journals Progressive cavitating leukoencephalopathy associated with a homozygous POLG mutation of 264C>G (p.F88L)

2020 ◽  
Vol 15 (7) ◽  
pp. 908-913
Author(s):  
Austin Shinagawa ◽  
Stephen Hugdal ◽  
Jay Babu ◽  
Rajesh Rangaswamy
Keyword(s):  
Polg Mutation

Novel POLG mutation in a patient with early-onset parkinsonism, progressive external ophthalmoplegia and optic atrophy

2019 ◽  
Vol 130 (4) ◽  
pp. 319-321
Author(s):  
Lin Ma ◽  
Wei Mao ◽  
Erhe Xu ◽  
Yanning Cai ◽  
Chaodong Wang ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Early Onset ◽  
Progressive External Ophthalmoplegia ◽  
Polg Mutation

EP.05New POLG mutation causing autosomal dominant PEO, proximal and distal myopathy and respiratory failure

2019 ◽  
Vol 29 ◽  
pp. S71-S72
Author(s):  
L. Gonzalez Mera ◽  
L. Carreño-Gago ◽  
A. Pellisé ◽  
I. Paramonov ◽  
E. García-Arumí ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Autosomal Dominant ◽  
Distal Myopathy ◽  
Polg Mutation

P84-F Subacute polyneuropathy partially responsive to immunomodulatory treatment coexisting with POLG mutation

2019 ◽  
Vol 130 (7) ◽  
pp. e91-e92
Author(s):  
Malgorzata Lukawska ◽  
Anna Potulska-Chromik ◽  
Marta Lipowska ◽  
Monika Nojszewska ◽  
Edyta Maj ◽  
...  
Keyword(s):  
Immunomodulatory Treatment ◽  
Polg Mutation

Leukoencephalopathy with a case of heterozygous POLG mutation mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

2019 ◽  
Vol 61 ◽  
pp. 302-304 ◽  
Author(s):  
Ken Yasuda ◽  
Nagako Murase ◽  
Kenji Yoshinaga ◽  
Ryo Ohtani ◽  
Yu-ichi Goto ◽  
...  
Keyword(s):  
Mitochondrial Neurogastrointestinal Encephalomyopathy ◽  
Polg Mutation
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