PMC Articles for MedGen (Select 1680556) - PMC

Select item 87966861.

Shamima Rahman, William C. Copeland

Nat Rev Neurol. Author manuscript; available in PMC 2022 Jan 28.

Published in final edited form as: Nat Rev Neurol. 2019 Jan; 15(1): 40–52. doi: 10.1038/s41582-018-0101-0

PMCID:: PMC8796686

Select item 81367762.

DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion

Pedro Silva-Pinheiro, Carlos Pardo-Hernández, Aurelio Reyes, Lisa Tilokani, Anup Mishra, Raffaele Cerutti, Shuaifeng Li, Dieu-Hien Rozsivalova, Sebastian Valenzuela, Sukru A Dogan, Bradley Peter, Patricio Fernández-Silva, Aleksandra Trifunovic, Julien Prudent, Michal Minczuk, Laurence Bindoff, Bertil Macao, Massimo Zeviani, Maria Falkenberg, Carlo Viscomi

Nucleic Acids Res. 2021 May 21; 49(9): 5230–5248. Published online 2021 May 6. doi: 10.1093/nar/gkab282

Correction in:: Nucleic Acids Res. 2021 Oct 11; 49(18): 10803.

PMCID:: PMC8136776

Article PDF–8.7M

Select item 58390543.

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants

Claudia Castiglioni, Fabiana Fattori, Bjarne Udd, Maria de los Angeles Avaria, Bernardita Suarez, Adele D’Amico, Alessandro Malandrini, Rosalba Carrozzo, Daniela Verrigni, Enrico Bertini, Giorgio Tasca

Eur J Hum Genet. 2018 Mar; 26(3): 367–373. Published online 2018 Jan 22. doi: 10.1038/s41431-017-0003-4

PMCID:: PMC5839054

Article PDF–1.2M

Select item 47032004.

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease

Sanjeev Rajakulendran, Robert D. S. Pitceathly, Jan-Willem Taanman, Harry Costello, Mary G. Sweeney, Cathy E. Woodward, Zane Jaunmuktane, Janice L. Holton, Thomas S. Jacques, Brian N. Harding, Carl Fratter, Michael G. Hanna, Shamima Rahman

PLoS One. 2016; 11(1): e0145500. Published online 2016 Jan 6. doi: 10.1371/journal.pone.0145500

PMCID:: PMC4703200

Article PDF–3.5M

Select item 36839025.

Clinical and Molecular Features of POLG-Related Mitochondrial Disease

Jeffrey D. Stumpf, Russell P. Saneto, William C. Copeland

Cold Spring Harb Perspect Biol. 2013 Apr; 5(4): a011395. doi: 10.1101/cshperspect.a011395

PMCID:: PMC3683902

Article PDF–565K

Select item 28911926.

Molecular and Clinical Genetics of Mitochondrial Diseases Due to POLG Mutations

Lee-Jun C. Wong, Robert K. Naviaux, Nicola Brunetti-Pierri, Qing Zhang, Eric S. Schmitt, Cavatina Truong, Margherita Milone, Bruce H. Cohen, Beverly Wical, Jaya Ganesh, Alice A. Basinger, Barbara K. Burton, Kathryn Swoboda, Donald L. Gilbert, Adeline Vanderver, Russell P. Saneto, Bruno Maranda, Georgianne Arnold, Jose E. Abdenur, Paula J. Waters, William C. Copeland

Hum Mutat. Author manuscript; available in PMC 2010 Jun 24.

Published in final edited form as: Hum Mutat. 2008 Sep; 29(9): E150–E172. doi: 10.1002/humu.20824

PMCID:: PMC2891192

Article PDF–671K

Select item 28751307.

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

C. Fratter, G.S. Gorman, J.D. Stewart, M. Buddles, C. Smith, J. Evans, A. Seller, J. Poulton, M. Roberts, M.G. Hanna, S. Rahman, S.E. Omer, T. Klopstock, B. Schoser, C. Kornblum, B. Czermin, B. Lecky, E.L. Blakely, K. Craig, P.F. Chinnery, D.M. Turnbull, R. Horvath, R.W. Taylor

Neurology. 2010 May 18; 74(20): 1619–1626. doi: 10.1212/WNL.0b013e3181df099f

PMCID:: PMC2875130

Article PDF–1.2M

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