Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease by Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon, Angela Pyle, Monika Oláhová, Christopher A Powell, Pedro Rebelo-Guiomar, Alexander Stover, Michael Champion, Charulata Deshpande, Emma L Baple, Karen L Stals, Sian Ellard, Olivia Anselem, Clémence Molac, Giulia Petrilli, Laurence Loeuillet, Sarah Grotto, Tania Attie-Bitach, Jose E Abdenur, Robert W Taylor, Michal Minczuk

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Clinical spectrum, treatment and outcomes of the m.10197G>A mutation in MT-ND3: a case report, systematic review and meta-analysis by YuZhi Shi, Bin Chen, SongTao Niu, XinGao Wang, ZaiQiang Zhang

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An exploratory study to evaluate efficacy and safety of frequent Transcutaneous Electrical Stimulation for Leber Hereditary Optic Neuropathy by Fumio Takano, Kaori Ueda, Takuji Kurimoto, Mina Arai, Takayuki Nagai, Yuko Yamada-Nakanishi, Makoto Nakamura

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Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis by Kohta Nakamura, Yukiko Yatsuka, Sachie Naito, Akira Hasegawa, Takeya Kasukawa, Atsushi Kondo, Yoshihito Kishita, Yohei Sugiyama, Takanori Onuki, Tomohiro Ebihara, Tomoko Tsuruoka, Takuya Fushimi, Akira Ohtake, Kei Murayama, Atsuko Imai‐Okazaki, Yasushi Okazaki

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Therapies for Mitochondrial Disorders by Kayli Sousa Smyth, Anne Mulvihill

Subjects: “…mitochondrial diseases…”
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NADH Reductive Stress and Its Correlation with Disease Severity in Leigh Syndrome: A Pilot Study Using Patient Fibroblasts and a Mouse Model by Tamaki Ishima, Natsuka Kimura, Mizuki Kobayashi, Chika Watanabe, Eriko F. Jimbo, Ryosuke Kobayashi, Takuro Horii, Izuho Hatada, Kei Murayama, Akira Ohtake, Ryozo Nagai, Hitoshi Osaka, Kenichi Aizawa

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