PMC Articles for MedGen (Select 371919) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 27

<< First< Prev

Page of 2

Next >Last >>

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

Abstract Article PDF–1.2M

Select item 70040302.

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance

Ewen W. Sommerville, Ilaria Dalla Rosa, Masha M. Rosenberg, Francesco Bruni, Kyle Thompson, Mariana Rocha, Emma L. Blakely, Langping He, Gavin Falkous, Andrew M. Schaefer, Patrick Yu‐Wai‐Man, Patrick F. Chinnery, Lizbeth Hedstrom, Antonella Spinazzola, Robert W. Taylor, Gráinne S. Gorman

Clin Genet. 2020 Feb; 97(2): 276–286. Published online 2019 Nov 14. doi: 10.1111/cge.13652

PMCID:: PMC7004030

Abstract Article PDF–2.6M

Select item 54791063.

Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link?

Costanza Simoncini, Gabriele Siciliano, Gloria Tognoni, Michelangelo Mancuso

Acta Myol. 2017 Mar; 36(1): 25–27.

PMCID:: PMC5479106

Abstract Article PDF–287K

Select item 50656864.

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Kyle Thompson, Homa Majd, Christina Dallabona, Karit Reinson, Martin S. King, Charlotte L. Alston, Langping He, Tiziana Lodi, Simon A. Jones, Aviva Fattal-Valevski, Nitay D. Fraenkel, Ann Saada, Alon Haham, Pirjo Isohanni, Roshni Vara, Inês A. Barbosa, Michael A. Simpson, Charu Deshpande, Sanna Puusepp, Penelope E. Bonnen, Richard J. Rodenburg, Anu Suomalainen, Katrin Õunap, Orly Elpeleg, Ileana Ferrero, Robert McFarland, Edmund R.S. Kunji, Robert W. Taylor

Am J Hum Genet. 2016 Oct 6; 99(4): 860–876. Published online 2016 Sep 29. doi: 10.1016/j.ajhg.2016.08.014

Correction in:: Am J Hum Genet. 2016 Dec 1; 99(6): 1405.

PMCID:: PMC5065686

Abstract Article PDF–2.1M

Select item 45725675.

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

Aurelio Reyes, Laura Melchionda, Alessia Nasca, Franco Carrara, Eleonora Lamantea, Alice Zanolini, Costanza Lamperti, Mingyan Fang, Jianguo Zhang, Dario Ronchi, Sara Bonato, Gigliola Fagiolari, Maurizio Moggio, Daniele Ghezzi, Massimo Zeviani

Am J Hum Genet. 2015 Jul 2; 97(1): 186–193. doi: 10.1016/j.ajhg.2015.05.013

PMCID:: PMC4572567

Abstract Article PDF–2.3M

Select item 33080556.

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 28596287.

Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk

C Lamperti, M Zeviani

Acta Myol. 2009 Jul; 28(1): 2–11.

PMCID:: PMC2859628

Abstract Article PDF–309K

Select item 28425128.

Multi-system neurological disease is common in patients with OPA1 mutations

P. Yu-Wai-Man, P.G. Griffiths, G.S. Gorman, C.M. Lourenco, A.F. Wright, M. Auer-Grumbach, A. Toscano, O. Musumeci, M.L. Valentino, L. Caporali, C. Lamperti, C.M. Tallaksen, P. Duffey, J. Miller, R.G. Whittaker, M.R. Baker, M.J. Jackson, M.P. Clarke, B. Dhillon, B. Czermin, J.D. Stewart, G. Hudson, P. Reynier, D. Bonneau, W. Marques, Jr, G. Lenaers, R. McFarland, R.W. Taylor, D.M. Turnbull, M. Votruba, M. Zeviani, V. Carelli, L.A. Bindoff, R. Horvath, P. Amati-Bonneau, P.F. Chinnery

Brain. 2010 Mar; 133(3): 771–786. Published online 2010 Feb 15. doi: 10.1093/brain/awq007

PMCID:: PMC2842512

Abstract Article PDF–667K

Select item 27789829.

Suppression of Mitochondrial DNA Instability of Autosomal Dominant Forms of Progressive External Ophthalmoplegia-Associated ANT1 Mutations in Podospora anserina

Riyad El-Khoury, Annie Sainsard-Chanet

Genetics. 2009 Nov; 183(3): 861–871. doi: 10.1534/genetics.109.107813

PMCID:: PMC2778982

Abstract Article PDF–2.0M

Select item 272526810.

A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

Henna Tyynismaa, Emil Ylikallio, Mehul Patel, Maria J. Molnar, Ronald G. Haller, Anu Suomalainen

Am J Hum Genet. 2009 Aug 14; 85(2): 290–295. doi: 10.1016/j.ajhg.2009.07.009

PMCID:: PMC2725268

Abstract Article PDF–472K

Select item 191467211.

An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.

J. A. Kaukonen, P. Amati, A. Suomalainen, A. Rötig, M. G. Piscaglia, F. Salvi, J. Weissenbach, G. Fratta, G. Comi, L. Peltonen, M. Zeviani

Am J Hum Genet. 1996 Apr; 58(4): 763–769.

PMCID:: PMC1914672

Summary Page Browse PDF–1.1M

Select item 173915512.

Two families with autosomal dominant progressive external ophthalmoplegia

S Kiechl, R Horvath, P Luoma, U Kiechl-Kohlendorf..., B Wallacher-Scholz, R Stucka, C Thaler, J Wanschitz, A Suomalainen, M Jaksch, J Willeit

J Neurol Neurosurg Psychiatry. 2004 Aug; 75(8): 1125–1128. doi: 10.1136/jnnp.2003.025890

PMCID:: PMC1739155

Summary PDF–176K

Select item 44306313.

Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia.

A Suomalainen, A Majander, M Haltia, H Somer, J Lönnqvist, M L Savontaus, L Peltonen

J Clin Invest. 1992 Jul; 90(1): 61–66. doi: 10.1172/JCI115856

PMCID:: PMC443063

Summary Page Browse PDF–1.8M

Select item 43444014.

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

Select item 930795715.

Heterozygous p.Y955C mutation in DNA polymerase γ leads to alterations in bioenergetics, complex I subunit expression, and mtDNA replication

Md. Mostafijur Rahman, Carolyn K.J. Young, Steffi Goffart, Jaakko L.O. Pohjoismäki, Matthew J. Young

J Biol Chem. 2022 Aug; 298(8): 102196. Published online 2022 Jun 24. doi: 10.1016/j.jbc.2022.102196

PMCID:: PMC9307957

Abstract Article PDF–4.8M

Select item 711065416.

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report

Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige, Hideshi Kawakami

BMC Med Genet. 2020; 21: 68. Published online 2020 Mar 31. doi: 10.1186/s12881-020-01002-4

PMCID:: PMC7110654

Abstract Article PDF–727K

Select item 485390117.

Differential Phenotypes of Active Site and Human Autosomal Dominant Progressive External Ophthalmoplegia Mutations in Drosophila Mitochondrial DNA Helicase Expressed in Schneider Cells

Yuichi Matsushima, Laurie S. Kaguni

J Biol Chem. Author manuscript; available in PMC 2016 May 3.

Published in final edited form as: J Biol Chem. 2007 Mar 30; 282(13): 9436–9444. Published online 2007 Jan 31. doi: 10.1074/jbc.M610550200

PMCID:: PMC4853901

Abstract Article PDF–1013K

Select item 447201018.

Misfolding of mutant adenine nucleotide translocase in yeast supports a novel mechanism of Ant1-induced muscle diseases

Yaxin Liu, Xiaowen Wang, Xin Jie Chen

Mol Biol Cell. 2015 Jun 1; 26(11): 1985–1994. doi: 10.1091/mbc.E15-01-0030

PMCID:: PMC4472010

Abstract Article PDF–1.0M

Select item 356727219.

Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability

Dario Ronchi, Alessio Di Fonzo, Weiqiang Lin, Andreina Bordoni, Changwei Liu, Elisa Fassone, Serena Pagliarani, Mafalda Rizzuti, Li Zheng, Massimiliano Filosto, Maria Teresa Ferrò, Michela Ranieri, Francesca Magri, Lorenzo Peverelli, Hongzhi Li, Yate-Ching Yuan, Stefania Corti, Monica Sciacco, Maurizio Moggio, Nereo Bresolin, Binghui Shen, Giacomo Pietro Comi

Am J Hum Genet. 2013 Feb 7; 92(2): 293–300. doi: 10.1016/j.ajhg.2012.12.014