PMC Articles for MedGen (Select 340509) - PMC

Select item 69751711.

Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO

Carola Hedberg-Oldfors, Bertil Macao, Swaraj Basu, Christopher Lindberg, Bradley Peter, Direnis Erdinc, Jay P. Uhler, Erik Larsson, Maria Falkenberg, Anders Oldfors

Neurol Genet. 2020 Feb; 6(1): e391. Published online 2020 Jan 10. doi: 10.1212/NXG.0000000000000391

PMCID:: PMC6975171

Abstract Article PDF–864K

Select item 33080552.

Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia

Atsushi Takata, Maiko Kato, Masayuki Nakamura, Takeo Yoshikawa, Shigenobu Kanba, Akira Sano, Tadafumi Kato

Genome Biol. 2011; 12(9): R92. Published online 2011 Sep 28. doi: 10.1186/gb-2011-12-9-r92

PMCID:: PMC3308055

Abstract Article PDF–614K

Select item 87966863.

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

Abstract Article PDF–1.2M

Select item 38992334.

Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions

Iselin Marie Wedding, Jeanette Koht, Gia Tuong Tran, Doriana Misceo, Kaja Kristine Selmer, Asbjørn Holmgren, Eirik Frengen, Laurence Bindoff, Chantal M. E. Tallaksen, Charalampos Tzoulis

PLoS One. 2014; 9(1): e86340. Published online 2014 Jan 22. doi: 10.1371/journal.pone.0086340

PMCID:: PMC3899233

Abstract Article PDF–1.1M

Select item 28911925.

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

Abstract Article PDF–671K

Select item 4344406.

Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA

Sjoerd Wanrooij, Petri Luoma, Gert van Goethem, Christine van Broeckhoven, Anu Suomalainen, Johannes N. Spelbrink

Nucleic Acids Res. 2004; 32(10): 3053–3064. Published online 2004 Jun 4. doi: 10.1093/nar/gkh634

PMCID:: PMC434440

Abstract Article PDF–341K

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