PMC Articles for MedGen (Select 479006) - PMC

Dimitri Loureiro, Issam Tout, Stéphanie Narguet, Cheikh Mohamed Bed, Morgane Roinard, Ahmad Sleiman, Nathalie Boyer, Nathalie Pons‐Kerjean, Corinne Castelnau, Nathalie Giuly, Dorothy Tonui, Vassili Soumelis, Jamel El Benna, Patrick Soussan, Richard Moreau, Valérie Paradis, Abdellah Mansouri, Tarik Asselah

Hepatology. 2023 Apr; 77(4): 1348–1365. Published online 2022 Sep 16. doi: 10.1002/hep.32731

PMCID:: PMC10026976

Abstract Article PDF–1.2M

Select item 92589784.

Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases

Guido Primiano, Alessandra Torraco, Daniela Verrigni, Andrea Sabino, Enrico Bertini, Rosalba Carrozzo, Gabriella Silvestri, Serenella Servidei

Neurol Genet. 2022 Aug; 8(4): e200007. Published online 2022 Jul 6. doi: 10.1212/NXG.0000000000200007

PMCID:: PMC9258978

Abstract Article PDF–412K

Select item 92463775.

RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis

Jonathan Shintaku, Wolfgang M. Pernice, Wafaa Eyaid, Jeevan B. GC, Zuben P. Brown, Marti Juanola-Falgarona, Javier Torres-Torronteras, Ewen W. Sommerville, Debby M.E.I. Hellebrekers, Emma L. Blakely, Alan Donaldson, Ingrid van de Laar, Cheng-Shiun Leu, Ramon Marti, Joachim Frank, Kurenai Tanji, David A. Koolen, Richard J. Rodenburg, Patrick F. Chinnery, H.J.M. Smeets, Gráinne S. Gorman, Penelope E. Bonnen, Robert W. Taylor, Michio Hirano

J Clin Invest. 2022 Jul 1; 132(13): e145660. Published online 2022 Jul 1. doi: 10.1172/JCI145660

PMCID:: PMC9246377

Abstract Article PDF–5.5M

Select item 91944406.

Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions

Arianna Manini, Leonardo Caporali, Megi Meneri, Simona Zanotti, Daniela Piga, Ignazio Giuseppe Arena, Stefania Corti, Antonio Toscano, Giacomo Pietro Comi, Olimpia Musumeci, Valerio Carelli, Dario Ronchi

Front Genet. 2022; 13: 906667. Published online 2022 May 31. doi: 10.3389/fgene.2022.906667

PMCID:: PMC9194440

Abstract Article PDF–1.4M

Select item 90346797.

Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions

Yue Hou, Xutong Zhao, Zhiying Xie, Meng Yu, He Lv, Wei Zhang, Yun Yuan, Zhaoxia Wang

Mol Genet Genomic Med. 2022 May; 10(5): e1921. Published online 2022 Mar 15. doi: 10.1002/mgg3.1921

PMCID:: PMC9034679

Abstract Article PDF–1.4M

Select item 89578678.

Neuropathic Pain as Main Manifestation of POLG-Related Disease: A Case Report

Melanie Lang-Orsini, Paloma Gonzalez-Perez

Front Neurol. 2022; 13: 846110. Published online 2022 Mar 8. doi: 10.3389/fneur.2022.846110

PMCID:: PMC8957867

Abstract Article PDF–894K

Select item 89466369.

Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions

Alessia Nasca, Andrea Legati, Megi Meneri, Melisa Emel Ermert, Chiara Frascarelli, Nadia Zanetti, Manuela Garbellini, Giacomo Pietro Comi, Alessia Catania, Costanza Lamperti, Dario Ronchi, Daniele Ghezzi

Cells. 2022 Mar; 11(6): 974. Published online 2022 Mar 12. doi: 10.3390/cells11060974

PMCID:: PMC8946636

Abstract Article PDF–1.6M

Select item 891430510.

Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical Progression

Arianna Manini, Megi Meneri, Carmelo Rodolico, Stefania Corti, Antonio Toscano, Giacomo Pietro Comi, Olimpia Musumeci, Dario Ronchi

Front Neurol. 2022; 13: 857279. Published online 2022 Feb 25. doi: 10.3389/fneur.2022.857279

PMCID:: PMC8914305

Abstract Article PDF–1.7M

Select item 858951511.

Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion

Justin Kurtz, Joseph Americo Fernandes, Jr, Mahesh Mansukhani, William C. Copeland, Ali B. Naini

Case Rep Genet. 2021; 2021: 9969071. Published online 2021 Nov 5. doi: 10.1155/2021/9969071

PMCID:: PMC8589515

Abstract Article PDF–4.7M

Select item 782443512.

Progressive External Ophthalmoplegia in Polish Patients—From Clinical Evaluation to Genetic Confirmation

Biruta Kierdaszuk, Magdalena Kaliszewska, Joanna Rusecka, Joanna Kosińska, Ewa Bartnik, Katarzyna Tońska, Anna M. Kamińska, Anna Kostera-Pruszczyk

Genes (Basel) 2021 Jan; 12(1): 54. Published online 2020 Dec 31. doi: 10.3390/genes12010054

PMCID:: PMC7824435

Abstract Article PDF–4.8M

Select item 779790113.

Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency

Carlos Pablo de Fuenmayor-Fernández de la Hoz, Germán Morís, Cecilia Jiménez-Mallebrera, Carmen Badosa, Aurelio Hernández-Laín, Alberto Blázquez Encinar, Miguel Ángel Martín, Cristina Domínguez-González

Mol Genet Metab Rep. 2021 Mar; 26: 100701. Published online 2021 Jan 6. doi: 10.1016/j.ymgmr.2020.100701

PMCID:: PMC7797901

Abstract Article PDF–920K

Select item 738332014.

Secondary manifestations of mitochondrial disorders

Josef Finsterer

J Zhejiang Univ Sci B. 2020 Jul; 21(7): 590–592. doi: 10.1631/jzus.B2000010

PMCID:: PMC7383320

Abstract Article PDF–353K

Select item 700403015.

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 669864516.

Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level

Diana Lehmann, Helen A L Tuppen, Georgia E Campbell, Charlotte L Alston, Conor Lawless, Hannah S Rosa, Mariana C Rocha, Amy K Reeve, Thomas J Nicholls, Marcus Deschauer, Stephan Zierz, Robert W Taylor, Doug M Turnbull, Amy E Vincent

Nucleic Acids Res. 2019 Aug 22; 47(14): 7430–7443. Published online 2019 May 31. doi: 10.1093/nar/gkz472

PMCID:: PMC6698645

Abstract Article PDF–5.5M

Select item 661850117.

The Impact of Pathogenic Mitochondrial DNA Mutations on Substantia Nigra Neurons

Amy Reeve, Martin Meagher, Nichola Lax, Eve Simcox, Philippa Hepplewhite, Evelyn Jaros, Doug Turnbull

J Neurosci. 2013 Jun 26; 33(26): 10790–10801. doi: 10.1523/JNEUROSCI.3525-12.2013

PMCID:: PMC6618501

Abstract Article PDF–4.4M

Select item 658812918.

Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions

Lidia Carreño-Gago, Cora Blázquez-Bermejo, Jordi Díaz-Manera, Yolanda Cámara, Eduard Gallardo, Ramon Martí, Javier Torres-Torronteras, Elena García-Arumí

Front Genet. 2019; 10: 576. Published online 2019 Jun 14. doi: 10.3389/fgene.2019.00576

PMCID:: PMC6588129

Abstract Article PDF–1.4M

Select item 650132619.

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández-Torrón, Carmen Fuiza-Luces, Jorge García García, Germán Morís, Montse Olivé, Frances Miralles, Jordi Díaz-Manera, Candela Caballero, Bosco Méndez-Ferrer, Ramon Martí, Elena García Arumi, María Carmen Badosa, Jesús Esteban, Cecilia Jimenez-Mallebrera, Alberto Blazquez Encinar, Joaquín Arenas, Michio Hirano, Miguel Ángel Martin, Carmen Paradas

Orphanet J Rare Dis. 2019; 14: 100. Published online 2019 May 6. doi: 10.1186/s13023-019-1071-z

PMCID:: PMC6501326

Abstract Article PDF–2.1M

Select item 614100120.

Subcellular origin of mitochondrial DNA deletions in human skeletal muscle

Amy E. Vincent, Hannah S. Rosa, Kamil Pabis, Conor Lawless, Chun Chen, Anne Grünewald, Karolina A. Rygiel, Mariana C. Rocha, Amy K. Reeve, Gavin Falkous, Valentina Perissi, Kathryn White, Tracey Davey, Basil J. Petrof, Avan A. Sayer, Cyrus Cooper, David Deehan, Robert W. Taylor, Doug M. Turnbull, Martin Picard

Ann Neurol. 2018 Aug; 84(2): 289–301. Published online 2018 Aug 21. doi: 10.1002/ana.25288

PMCID:: PMC6141001

Abstract Article PDF–1.5M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 72

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity