PMC Links for Nucleotide (Select 1696246595) - PMC

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Items: 5

Select item 35238051.

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Sarah E. Calvo, Alison G. Compton, Steven G. Hershman, Sze Chern Lim, Daniel S. Lieber, Elena J. Tucker, Adrienne Laskowski, Caterina Garone, Shangtao Liu, David B. Jaffe, John Christodoulou, Janice M. Fletcher, Damien L Bruno, Jack Goldblatt, Salvatore DiMauro, David R. Thorburn, Vamsi K. Mootha

Sci Transl Med. Author manuscript; available in PMC 2012 Dec 17.

Published in final edited form as: Sci Transl Med. 2012 Jan 25; 4(118): 118ra10. doi: 10.1126/scitranslmed.3003310

PMCID:: PMC3523805

Abstract Article PDF–1.7M

Select item 27525302.

Biogenesis of glutaminyl-mt tRNA^Gln in human mitochondria

Asuteka Nagao, Takeo Suzuki, Takayuki Katoh, Yuriko Sakaguchi, Tsutomu Suzuki

Proc Natl Acad Sci U S A. 2009 Sep 22; 106(38): 16209–16214. Published online 2009 Sep 9. doi: 10.1073/pnas.0907602106

PMCID:: PMC2752530

Abstract Article PDF–1.1M

Select item 56100403.

De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities

Ewen W. Sommerville, Charlotte L. Alston, Angela Pyle, Langping He, Gavin Falkous, Karen Naismith, Patrick F. Chinnery, Robert McFarland, Robert W. Taylor

Neurol Genet. 2017 Oct; 3(5): e187. Published online 2017 Sep 22. doi: 10.1212/NXG.0000000000000187

PMCID:: PMC5610040

Abstract Article PDF–306K

Select item 54134444.

Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features

Renata Oliveira, Ewen W. Sommerville, Kyle Thompson, Joana Nunes, Angela Pyle, Manuela Grazina, Patrick F. Chinnery, Luísa Diogo, Paula Garcia, Robert W. Taylor

JIMD Rep. 2017; 33: 61–68. Published online 2016 Aug 30. doi: 10.1007/8904_2016_581

PMCID:: PMC5413444

Abstract Article PDF–475K

Select item 47047815.

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

Masakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita, Hiromi Nyuzuki, Yohsuke Moriyama, Yosuke Mizuno, Tomoko Hirata, Yukiko Yatsuka, Yzumi Yamashita-Sugahara, Yutaka Nakachi, Hidemasa Kato, Akihiko Okuda, Shunsuke Tamaru, Nurun Nahar Borna, Kengo Banshoya, Toshiro Aigaki, Yukiko Sato-Miyata, Kohei Ohnuma, Tsutomu Suzuki, Asuteka Nagao, Hazuki Maehata, Fumihiko Matsuda, Koichiro Higasa, Masao Nagasaki, Jun Yasuda, Masayuki Yamamoto, Takuya Fushimi, Masaru Shimura, Keiko Kaiho-Ichimoto, Hiroko Harashima, Taro Yamazaki, Masato Mori, Kei Murayama, Akira Ohtake, Yasushi Okazaki

PLoS Genet. 2016 Jan; 12(1): e1005679. Published online 2016 Jan 7. doi: 10.1371/journal.pgen.1005679