Results 121 to 130 of about 9,186 (248)

Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: Clinical, genetic and neuroradiological features [PDF]

, 2018
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder in which a nuclear mutation of the thymidine phosphorylase (TP) gene causes mitochondrial genomic dysfunction.
Benoist, J.F., Brekenfeld, C., Burgunder, J.M., Gallati, S., Kappeler, L., Mattle, H.P., Schaller, A., Schüpbach, W.M.M., Seibold, F., Vadday, K., Xuan-Huong, C.   +10 more
core  

Mitochonic Acid 5 (MA-5) Facilitates ATP Synthase Oligomerization and Cell Survival in Various Mitochondrial Diseases [PDF]

, 2017
Mitochondrial dysfunction increases oxidative stress and depletes ATP in a variety of disorders. Several antioxidant therapies and drugs affecting mitochondrial biogenesis are undergoing investigation, although not all of them have demonstrated favorable
Abe Takaaki, Aiba Setsuya, Akiyama Yasutoshi, Akiyama Yukako, Hayashi Ken-ichiro, Hozawa Atsushi, Hsin-Jung HO, Ito Sadayoshi, Kanno Shin-ichiro, Kikuchi Koichi, Kikusato Motoi, Kudo Tai, Kumagai Naonori, Kure Shigeo, Mano Nariyasu, Matsuhashi Tetsuro, Matsuo Akihiro, Mishima Eikan, Mukaiyama Yasuno, Nakada Kazuto, Nanto Fumika, Oba Yuki, Ogasawara Emi, Ogata Masaki, Ohara Osamu, Oikawa Yoshitsugu, Osaka Hitoshi, Owada Yuji, Saigusa Daisuke, Sato Takeya, Shima Hisato, Shimbo Hiroko, Suzuki Chitose, Suzuki Kosuke, Suzuki Takehiro, Tomioka Yoshihisa, Toyomizu Masaaki, Uematsu Mitsugu, Watabe Akiko, Yamaguchi Hiroaki, Yanagisawa Teruyuki, 中田 和人   +41 more
core   +3 more sources

Chronic Progressive External Ophthalmoplegia [PDF]

BMJ, 1949
openaire   +2 more sources

Chronic Progressive External Ophthalmoplegia [PDF]

British Journal of Ophthalmology, 1953
openaire   +2 more sources

The multiple ADP/ATP translocase genes are differentially expressed during human muscle development [PDF]

, 1992
The expression of the genes encoding the three isoforms of the human ADP/ATP translocase (T1, T2, and T3) has been analyzed at different stages of myogenic differentiation in an in vitro muscle cell system and compared with that in mature muscle.
Attardi, Giuseppe, Engel, W. King, Hurko, Orest, Lunardi, Joël   +3 more
core  

Publication Only

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

Vocal cord palsy in a case of chronic progressive external ophthalmoplegia

Annals of Indian Academy of Neurology, 2015
Subasree Ramakrishnan, Ravi Yadav, Sikander Adwani, Veerendrakumar Mustare, Girish B Kulkarni, Gayathri Narayanappa, Govindaraj Periyasamy, Thangaraj Kumarasamy   +7 more
doaj   +1 more source

Chronic Progressive External Ophthalmoplegia [PDF]

British Journal of Ophthalmology, 1980
openaire   +1 more source

Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia

Journal of the Formosan Medical Association, 2016
Chia-Chieh Hsiao, Ni-Chung Lee, Pei-Hsin Huang, Tzu-Hsun Tsai   +3 more
doaj   +1 more source

Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes

Orphanet Journal of Rare Diseases
Background The SLSMDS Research Network is a collaborative network comprising patient advocates, researchers, clinicians, and affected families seeking to improve outcomes for individuals with single large-scale mitochondrial DNA deletion syndromes ...
Laura E. MacMullen, Elizabeth Reynolds, Marissa Weis, Ibrahim George-Sankoh, Sara Nguyen, Katelynn D. Stanley, Mariya Redko, Maria Poblete, Amy C. Goldstein, Rebecca D. Ganetzky   +9 more
doaj   +1 more source