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Select item 103933941.

Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy

Arnaud Jacquier, Julian Theuriet, Fanny Fontaine, Valentine Mosbach, Nicolas Lacoste, Shams Ribault, Valérie Risson, Julien Carras, Laurent Coudert, Thomas Simonet, Philippe Latour, Tanya Stojkovic, Juliette Piard, Anne Cosson, Gaëtan Lesca, Françoise Bouhour, Stéphane Allouche, Hélène Puccio, Antoine Pegat, Laurent Schaeffer

Brain. 2023 Aug; 146(8): 3470–3483. Published online 2022 Dec 1. doi: 10.1093/brain/awac453

PMCID:: PMC10393394

Abstract Article PDF–1.1M

Select item 102059142.

Retinopathy and Optic Atrophy in a Case of COQ2-related Primary Coenzyme Q10 Deficiency

Jeannette Y. Stallworth, David R. Blair, Anne Slavotinek, Anthony T. Moore, Jacque L. Duncan, Alejandra G. de Alba Campomanes

Ophthalmic Genet. Author manuscript; available in PMC 2024 Oct 1.

Published in final edited form as: Ophthalmic Genet. 2023 Oct; 44(5): 486–490. Published online 2022 Nov 24. doi: 10.1080/13816810.2022.2141792

PMCID:: PMC10205914

Currently embargoed: Free in PMC on Oct 1, 2024; PubMed

Select item 95817643.

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H. Z. Li, Robert A. Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna Weener, Theresia Zuleger, Tobias B. Haack, Katarina Stingl, Genomics England Research Consortium, Carel B. Hoyng, Omar A. Mahroo, Iain Hargreaves, F. Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R. Webster, Gavin Arno

NPJ Genom Med. 2022; 7: 60. Published online 2022 Oct 20. doi: 10.1038/s41525-022-00330-z

PMCID:: PMC9581764

Abstract Article PDF–2.3M

Select item 93144844.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 90293355.

Mechanisms and Therapeutic Effects of Benzoquinone Ring Analogs in Primary CoQ Deficiencies

Alba Pesini, Agustin Hidalgo-Gutierrez, Catarina M. Quinzii

Antioxidants (Basel) 2022 Apr; 11(4): 665. Published online 2022 Mar 30. doi: 10.3390/antiox11040665

PMCID:: PMC9029335

Abstract Article PDF–1.3M

Select item 78180836.

Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness

Francesca Nardecchia, Agnese De Giorgi, Flavia Palombo, Claudio Fiorini, Anna M. De Negri, Valerio Carelli, Leonardo Caporali, Vincenzo Leuzzi

Ann Clin Transl Neurol. 2021 Jan; 8(1): 247–251. Published online 2020 Dec 7. doi: 10.1002/acn3.51232

PMCID:: PMC7818083

Abstract Article PDF–679K

Select item 74516497.

Micellization of coenzyme Q by the fungicide caspofungin allows for safe intravenous administration to reach extreme supraphysiological concentrations

Ying Wang, Siegfried Hekimi

Redox Biol. 2020 Sep; 36: 101680. Published online 2020 Aug 7. doi: 10.1016/j.redox.2020.101680

PMCID:: PMC7451649

Abstract Article PDF–8.2M

Select item 66832058.

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

Mullin Ho-Chung Yu, Mandy Ho-Yin Tsang, Sophie Lai, Matthew Sai-Pong Ho, Donald M. L. Tse, Brooke Willis, Anna Ka-Yee Kwong, Yen-Yin Chou, Shuan-Pei Lin, Catarina M Quinzii, Wuh-Liang Hwu, Yin-Hsiu Chien, Pao-Lin Kuo, Victor Chi-Man Chan, Cheung Tsoi, Shuk-Ching Chong, Richard J. T. Rodenburg, Jan Smeitink, Christopher Chun-Yu Mak, Kit-San Yeung, Jasmine Lee-Fong Fung, Wendy Lam, Joannie Hui, Ni-Chung Lee, Cheuk‐Wing Fung, Brian Hon-Yin Chung

NPJ Genom Med. 2019; 4: 18. Published online 2019 Aug 5. doi: 10.1038/s41525-019-0091-x

PMCID:: PMC6683205

Abstract Article PDF–1.4M

Select item 65360009.

COQ4 mutation leads to childhood-onset ataxia improved by CoQ1O administration

Ahmet Okay Caglayan, Hakan Gumus, Erin Sandford, Thomas L. Kubisiak, Qianyi Ma, A. Bilge Ozel, Huseyin Per, Jun Z. Li, Vikram G. Shakkottai, Margit Burmeister

Cerebellum. Author manuscript; available in PMC 2020 Jun 1.

Published in final edited form as: Cerebellum. 2019 Jun; 18(3): 665–669. doi: 10.1007/s12311-019-01011-x

PMCID:: PMC6536000

Abstract Article PDF–340K

Select item 613887810.

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes

Annet M. Bosch, Erik-Jan Kamsteeg, Richard J. Rodenburg, Arend W. van Deutekom, Dennis R. Buis, Marc Engelen, Jan-Maarten Cobben

Mol Genet Metab Rep. 2018 Dec; 17: 19–21. Published online 2018 Sep 13. doi: 10.1016/j.ymgmr.2018.09.002

PMCID:: PMC6138878

Article PDF–498K

Select item 469657911.

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS

Emine Korkmaz, Beata S. Lipska-Ziętkiewicz, Olivia Boyer, Olivier Gribouval, Cecile Fourrage, Mansoureh Tabatabaei, Sven Schnaidt, Safak Gucer, Figen Kaymaz, Mustafa Arici, Ayhan Dinckan, Sevgi Mir, Aysun K. Bayazit, Sevinc Emre, Ayse Balat, Lesley Rees, Rukshana Shroff, Carsten Bergmann, Chebl Mourani, Corinne Antignac, Fatih Ozaltin, Franz Schaefer, the PodoNet Consortium

J Am Soc Nephrol. 2016 Jan; 27(1): 63–68. Published online 2015 May 12. doi: 10.1681/ASN.2014121240

PMCID:: PMC4696579

Abstract Article

Select item 455760712.

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

Darrell L. Dinwiddie, Laurie D. Smith, Neil A. Miller, Andrea M. Atherton, Emily G. Farrow, Meghan E. Strenk, Sarah E. Soden, Carol J. Saunders, Stephen F. Kingsmore

Genomics. Author manuscript; available in PMC 2015 Sep 2.

Published in final edited form as: Genomics. 2013 Sep; 102(3): 148–156. Published online 2013 Apr 28. doi: 10.1016/j.ygeno.2013.04.013

PMCID:: PMC4557607

Abstract Article PDF–580K

Select item 443029713.

Primary coenzyme Q₁₀ deficiency presenting as fatal neonatal multiorgan failure

Maria Andrea Desbats, Annalisa Vetro, Ivan Limongelli, Giada Lunardi, Alberto Casarin, Mara Doimo, Marco Spinazzi, Corrado Angelini, Giovanna Cenacchi, Alberto Burlina, Maria Angeles Rodriguez Hernandez, Lino Chiandetti, Maurizio Clementi, Eva Trevisson, Placido Navas, Orsetta Zuffardi, Leonardo Salviati

Eur J Hum Genet. 2015 Sep; 23(9): 1254–1258. Published online 2015 Jan 7. doi: 10.1038/ejhg.2014.277

PMCID:: PMC4430297

Abstract Article PDF–7.4M

Select item 432025514.

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ₁₀ Deficiency

Gloria Brea-Calvo, Tobias B. Haack, Daniela Karall, Akira Ohtake, Federica Invernizzi, Rosalba Carrozzo, Laura Kremer, Sabrina Dusi, Christine Fauth, Sabine Scholl-Bürgi, Elisabeth Graf, Uwe Ahting, Nicoletta Resta, Nicola Laforgia, Daniela Verrigni, Yasushi Okazaki, Masakazu Kohda, Diego Martinelli, Peter Freisinger, Tim M. Strom, Thomas Meitinger, Costanza Lamperti, Atilano Lacson, Placido Navas, Johannes A. Mayr, Enrico Bertini, Kei Murayama, Massimo Zeviani, Holger Prokisch, Daniele Ghezzi

Am J Hum Genet. 2015 Feb 5; 96(2): 309–317. doi: 10.1016/j.ajhg.2014.12.023

PMCID:: PMC4320255

Abstract Article PDF–644K

Select item 398394615.

Haploinsufficiency of COQ4 causes coenzyme Q₁₀ deficiency

Leonardo Salviati, Eva Trevisson, Maria Angeles Rodriguez Hernandez, Alberto Casarin, Vanessa Pertegato, Mara Doimo, Matteo Cassina, Caterina Agosto, Maria Andrea Desbats, Geppo Sartori, Sabrina Sacconi, Luigi Memo, Orsetta Zuffardi, Rafael Artuch, Catarina Quinzii, Salvatore DiMauro, Michio Hirano, Carlos Santos-Ocaña, Plácido Navas

J Med Genet. Author manuscript; available in PMC 2014 Apr 11.

Published in final edited form as: J Med Genet. 2012 Mar; 49(3): 187–191. doi: 10.1136/jmedgenet-2011-100394

PMCID:: PMC3983946

Abstract Article PDF–674K

Select item 395977316.

The clinical maze of mitochondrial neurology

Salvatore DiMauro, Eric A. Schon, Valerio Carelli, Michio Hirano

Nat Rev Neurol. Author manuscript; available in PMC 2014 Mar 19.

Published in final edited form as: Nat Rev Neurol. 2013 Aug; 9(8): 429–444. Published online 2013 Jul 9. doi: 10.1038/nrneurol.2013.126

PMCID:: PMC3959773

Abstract Article PDF–1.6M

Select item 385942517.

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ₁₀ biosynthesis disruption

Shazia Ashraf, Heon Yung Gee, Stephanie Woerner, Letian X. Xie, Virginia Vega-Warner, Svjetlana Lovric, Humphrey Fang, Xuewen Song, Daniel C. Cattran, Carmen Avila-Casado, Andrew D. Paterson, Patrick Nitschké, Christine Bole-Feysot, Pierre Cochat, Julian Esteve-Rudd, Birgit Haberberger, Susan J. Allen, Weibin Zhou, Rannar Airik, Edgar A. Otto, Moumita Barua, Mohamed H. Al-Hamed, Jameela A. Kari, Jonathan Evans, Agnieszka Bierzynska, Moin A. Saleem, Detlef Böckenhauer, Robert Kleta, Sherif El Desoky, Duygu O. Hacihamdioglu, Faysal Gok, Joseph Washburn, Roger C. Wiggins, Murim Choi, Richard P. Lifton, Shawn Levy, Zhe Han, Leonardo Salviati, Holger Prokisch, David S. Williams, Martin Pollak, Catherine F. Clarke, York Pei, Corinne Antignac, Friedhelm Hildebrandt

J Clin Invest. 2013 Dec 2; 123(12): 5179–5189. Published online 2013 Nov 25. doi: 10.1172/JCI69000

PMCID:: PMC3859425

Abstract Article PDF–2.9M

Select item 384354018.

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

Cyril Mignot, Emmanuelle Apartis, Alexandra Durr, Charles Marques Lourenço, Perrine Charles, David Devos, Caroline Moreau, Pascale de Lonlay, Nathalie Drouot, Lydie Burglen, Nadine Kempf, Elsa Nourisson, Sandra Chantot-Bastaraud, Anne-Sophie Lebre, Marlène Rio, Yves Chaix, Eric Bieth, Emmanuel Roze, Isabelle Bonnet, Sandrine Canaple, Coralie Rastel, Alexis Brice, Agnès Rötig, Isabelle Desguerre, Christine Tranchant, Michel Koenig, Mathieu Anheim

Orphanet J Rare Dis. 2013; 8: 173. Published online 2013 Oct 28. doi: 10.1186/1750-1172-8-173

PMCID:: PMC3843540

Abstract Article PDF–1.5M

Select item 363947219.

Heterogeneity of coenzyme Q₁₀ deficiency: Patient Study and Literature Review

V Emmanuele, LC López, A Berardo, A Naini, S Tadesse, B Wen, E D’Agostino, M Salomon, S DiMauro, CM Quinzii, M Hirano

Arch Neurol. Author manuscript; available in PMC 2013 Apr 30.

Published in final edited form as: Arch Neurol. 2012 Aug; 69(8): 978–983. doi: 10.1001/archneurol.2012.206

Correction in:: volume 69 on page 886

PMCID:: PMC3639472

Abstract Article PDF–387K

Select item 361395820.

Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome

Hugh J. McCarthy, Agnieszka Bierzynska, Matt Wherlock, Milos Ognjanovic, Larissa Kerecuk, Shivaram Hegde, Sally Feather, Rodney D. Gilbert, Leah Krischock, Caroline Jones, Manish D. Sinha, Nicholas J.A. Webb, Martin Christian, Margaret M. Williams, Stephen Marks, Ania Koziell, Gavin I. Welsh, Moin A. Saleem, on behalf of RADAR the UK SRNS Study Group

Clin J Am Soc Nephrol. 2013 Apr 5; 8(4): 637–648. Published online 2013 Jan 24. doi: 10.2215/CJN.07200712

PMCID:: PMC3613958

Abstract Article

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