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Items: 1 to 20 of 31

1.
Ataxia y neuropatía sensitiva de inicio en la edad adulta como manifestación clínica de mutaciones en el gen POLG
Carmen García-Cabo, Paula Carvajal-García, Iván Fernández-Vega, Jorge Peña-Suárez, Valentín Mateos-Marcos, Patricia Suárez-Santos, Victoria Álvarez-Martínez, Germán Morís-de la Tassa
Rev Neurol. 2023; 76(3): 75–81. Spanish. Published online 2023 Feb 1. doi: 10.33588/rn.7603.2022322
PMCID:
PMC10364044
AbstractArticlePDF–1.0M
2.
POLG-related disorders and their neurological manifestations
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
AbstractArticlePDF–1.2M
3.
POLG mutations presenting as CMT
Jade Phillips, Steve Courel, Adriana P. Rebelo, Dana M. Bis-Brewer, Tanya Bardakjian, Lois Dankwa, Ali G. Hamedani, Stephan Züchner, Steven S. Scherer
J Peripher Nerv Syst. Author manuscript; available in PMC 2021 Jul 19.
Published in final edited form as: J Peripher Nerv Syst. 2019 Jun; 24(2): 213–218. Published online 2019 Apr 10. doi: 10.1111/jns.12313
PMCID:
PMC8287532
AbstractArticlePDF–443K
4.
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel-Guitton, John Christodoulou, Bruce H. Cohen, David Dimmock, Gregory M. Enns, Marni J. Falk, Annette Feigenbaum, Richard E. Frye, Jaya Ganesh, David Griesemer, Richard Haas, Rita Horvath, Mark Korson, Michael C. Kruer, Michelangelo Mancuso, Shana McCormack, Marie Josee Raboisson, Tyler Reimschisel, Ramona Salvarinova, Russell P. Saneto, Fernando Scaglia, John Shoffner, Peter W. Stacpoole, Carolyn M. Sue, Mark Tarnopolsky, Clara Van Karnebeek, Lynne A. Wolfe, Zarazuela Zolkipli Cunningham, Shamima Rahman, Patrick F. Chinnery
Genet Med. Author manuscript; available in PMC 2021 Jan 13.
Published in final edited form as: Genet Med. 2017 Dec; 19(12): 10.1038/gim.2017.107. Published online 2017 Jul 27. doi: 10.1038/gim.2017.107
PMCID:
PMC7804217
AbstractArticlePDF–495K
5.
Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging
Scott A. Lujan, Matthew J. Longley, Margaret H. Humble, Christopher A. Lavender, Adam Burkholder, Emma L. Blakely, Charlotte L. Alston, Grainne S. Gorman, Doug M. Turnbull, Robert McFarland, Robert W. Taylor, Thomas A. Kunkel, William C. Copeland
Genome Biol. 2020; 21: 248. Published online 2020 Sep 17. doi: 10.1186/s13059-020-02138-5
PMCID:
PMC7500033
AbstractArticlePDF–2.7M
6.
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper
Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3
PMCID:
PMC7497289
AbstractArticlePDF–2.5M
7.
TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and Disease
Bradley Peter, Maria Falkenberg
Genes (Basel) 2020 Apr; 11(4): 408. Published online 2020 Apr 9. doi: 10.3390/genes11040408
PMCID:
PMC7231222
AbstractArticlePDF–2.9M
8.
Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far
Dario Pacitti, Michelle Levene, Caterina Garone, Niranjanan Nirmalananthan, Bridget E. Bax
Front Genet. 2018; 9: 669. Published online 2018 Dec 21. doi: 10.3389/fgene.2018.00669
PMCID:
PMC6309918
AbstractArticlePDF–2.3M
9.
Understanding the Epilepsy in POLG Related Disease
Omar Hikmat, Tom Eichele, Charalampos Tzoulis, Laurence A. Bindoff
Int J Mol Sci. 2017 Sep; 18(9): 1845. Published online 2017 Aug 24. doi: 10.3390/ijms18091845
PMCID:
PMC5618494
AbstractArticlePDF–1.1M
10.
Arginine and citrulline for the treatment of MELAS syndrome
Ayman W. El-Hattab, Mohammed Almannai, Fernando Scaglia
J Inborn Errors Metab Screen. Author manuscript; available in PMC 2017 Jul 20.
Published in final edited form as: J Inborn Errors Metab Screen. 2017 Jan; 5: 10.1177/2326409817697399. Published online 2017 Mar 24. doi: 10.1177/2326409817697399
PMCID:
PMC5519148
AbstractArticlePDF–301K
11.
Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database
Anssi Nurminen, Gregory A. Farnum, Laurie S. Kaguni
BBA Clin. 2017 Jun; 7: 147–156. Published online 2017 Apr 18. doi: 10.1016/j.bbacli.2017.04.001
PMCID:
PMC5413197
AbstractArticlePDF–1.2M
12.
Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations
Karen L. DeBalsi, Matthew J. Longley, Kirsten E. Hoff, William C. Copeland
J Biol Chem. 2017 Mar 10; 292(10): 4198–4209. Published online 2017 Feb 2. doi: 10.1074/jbc.M116.773341
PMCID:
PMC5354484
AbstractArticlePDF–2.4M
13.
Nutritional Interventions in Primary Mitochondrial Disorders: Developing an Evidence Base
Kathryn M. Camp, Danuta Krotoski, Melissa A. Parisi, Katrina A. Gwinn, Bruce H. Cohen, Christine S. Cox, Gregory M. Enns, Marni J. Falk, Amy C. Goldstein, Rashmi Gopal-Srivastava, Gráinne S. Gorman, Stephen P. Hersh, Michio Hirano, Freddie Ann Hoffman, Amel Karaa, Erin L. MacLeod, Robert McFarland, Charles Mohan, Andrew E. Mulberg, Joanne C. Odenkirchen, Sumit Parikh, Patricia J. Rutherford, Shawne K. Suggs-Anderson, W.H. Wilson Tang, Jerry Vockley, Lynne A. Wolfe, Steven Yannicelli, Philip E. Yeske, Paul M. Coates
Mol Genet Metab. Author manuscript; available in PMC 2017 Nov 1.
Published in final edited form as: Mol Genet Metab. 2016 Nov; 119(3): 187–206. Published online 2016 Sep 20. doi: 10.1016/j.ymgme.2016.09.002
PMCID:
PMC5083179
AbstractArticlePDF–473K
14.
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell Saneto, Irina Anselm, Bruce H. Cohen, Marni J. Falk, Carol Greene, Andrea L. Gropman, Richard Haas, Michio Hirano, Phil Morgan, Katherine Sims, Mark Tarnopolsky, Johan L.K. Van Hove, Lynne Wolfe, Salvatore DiMauro
Genet Med. Author manuscript; available in PMC 2016 Sep 1.
Published in final edited form as: Genet Med. 2015 Sep; 17(9): 689–701. Published online 2014 Dec 11. doi: 10.1038/gim.2014.177
PMCID:
PMC5000852
AbstractArticlePDF–386K
15.
The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism
Arnaud Besse, Ping Wu, Francesco Bruni, Taraka Donti, Brett H. Graham, William J. Craigen, Robert McFarland, Paolo Moretti, Seema Lalani, Kenneth L. Scott, Robert W. Taylor, Penelope E. Bonnen
Cell Metab. Author manuscript; available in PMC 2016 Mar 3.
Published in final edited form as: Cell Metab. 2015 Mar 3; 21(3): 417–427. doi: 10.1016/j.cmet.2015.02.008
PMCID:
PMC4757431
AbstractArticlePDF–783K
16.
Timing, rates and spectra of human germline mutation
Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles
Nat Genet. Author manuscript; available in PMC 2016 Jun 14.
Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469
PMCID:
PMC4731925
AbstractArticlePDF–1.6M
17.
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
AbstractArticlePDF–960K
18.
How can we treat mitochondrial encephalomyopathies? approaches to therapy
Rita Horvath, Grainne Gorman, Patrick F. Chinnery
Neurotherapeutics. 2008 Oct; 5(4): 558–568. Published online 2008 Oct 1. doi: 10.1016/j.nurt.2008.07.002
PMCID:
PMC4514691
AbstractArticlePDF–108K
19.
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort
Cécile Rouzier, Annabelle Chaussenot, Valérie Serre, Konstantina Fragaki, Sylvie Bannwarth, Samira Ait-El-Mkadem, Shahram Attarian, Elsa Kaphan, Aline Cano, Emilien Delmont, Sabrina Sacconi, Bénédicte Mousson de Camaret, Marlène Rio, Anne-Sophie Lebre, Claude Jardel, Romain Deschamps, Christian Richelme, Jean Pouget, Brigitte Chabrol, Véronique Paquis-Flucklinger
Eur J Hum Genet. 2014 Apr; 22(4): 542–550. Published online 2013 Aug 7. doi: 10.1038/ejhg.2013.171
PMCID:
PMC3953900
AbstractArticlePDF–1.0M
20.
Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
Xiaowu Gai, Daniele Ghezzi, Mark A. Johnson, Caroline A. Biagosch, Hanan E. Shamseldin, Tobias B. Haack, Aurelio Reyes, Mai Tsukikawa, Claire A. Sheldon, Satish Srinivasan, Matteo Gorza, Laura S. Kremer, Thomas Wieland, Tim M. Strom, Erzsebet Polyak, Emily Place, Mark Consugar, Julian Ostrovsky, Sara Vidoni, Alan J. Robinson, Lee-Jun Wong, Neal Sondheimer, Mustafa A. Salih, Emtethal Al-Jishi, Christopher P. Raab, Charles Bean, Francesca Furlan, Rossella Parini, Costanza Lamperti, Johannes A. Mayr, Vassiliki Konstantopoulou, Martina Huemer, Eric A. Pierce, Thomas Meitinger, Peter Freisinger, Wolfgang Sperl, Holger Prokisch, Fowzan S. Alkuraya, Marni J. Falk, Massimo Zeviani
Am J Hum Genet. 2013 Sep 5; 93(3): 482–495. doi: 10.1016/j.ajhg.2013.07.016
PMCID:
PMC3769923
AbstractArticlePDF–1.4M

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