PMC Articles for MedGen (Select 1740444) - PMC

Select item 94821531.

Effects of CoQ10 Replacement Therapy on the Audiological Characteristics of Pediatric Patients with COQ6 Variants

Dong Woo Nam, Sang Soo Park, So Min Lee, Myung-Whan Suh, Moo Kyun Park, Jae-Jin Song, Byung Yoon Choi, Jun Ho Lee, Seung Ha Oh, Kyung Chul Moon, Yo Han Ahn, Hee Gyung Kang, Hae Il Cheong, Ji Hyun Kim, Sang-Yeon Lee

Biomed Res Int. 2022; 2022: 5250254. Published online 2022 Sep 9. doi: 10.1155/2022/5250254

PMCID:: PMC9482153

Abstract Article PDF–657K

Select item 89144402.

Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the ADCK3 Gene and Poor Response to Therapy

Mahmoud Reza Ashrafi, Roya Haghighi, Reza Shervin Badv, Homa Ghabeli, Ali Reza Tavasoli, Elham Pourbakhtyaran, Zahra Rezaei, Nejat Mahdieh, Pouria Mohammadi, Morteza Heidari

J Mol Neurosci. 2022; 72(5): 1125–1132. Published online 2022 Mar 11. doi: 10.1007/s12031-022-01993-0

PMCID:: PMC8914440

Abstract Article PDF–1.7M

Select item 64840003.

Vitamin K2 cannot substitute Coenzyme Q₁₀ as electron carrier in the mitochondrial respiratory chain of mammalian cells

Cristina Cerqua, Alberto Casarin, Fabien Pierrel, Luis Vazquez Fonseca, Giampiero Viola, Leonardo Salviati, Eva Trevisson

Sci Rep. 2019; 9: 6553. Published online 2019 Apr 25. doi: 10.1038/s41598-019-43014-y

PMCID:: PMC6484000

Abstract Article PDF–1.0M

Select item 59904614.

COQ2 nephropathy: A treatable cause of nephrotic syndrome in children

Michelle C. Starr, Irene J. Chang, Laura S. Finn, Angela Sun, Austin A. Larson, Jens Goebel, Coral Hanevold, Jenny Thies, Johan L.K. Van Hove, Sangeeta R. Hingorani, Christina Lam

Pediatr Nephrol. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Pediatr Nephrol. 2018 Jul; 33(7): 1257–1261. Published online 2018 Apr 10. doi: 10.1007/s00467-018-3937-z

PMCID:: PMC5990461

Abstract Article PDF–403K

Select item 44928235.

The clinical heterogeneity of coenzyme Q₁₀ deficiency results from genotypic differences in the Coq9 gene

Marta Luna-Sánchez, Elena Díaz-Casado, Emanuele Barca, Miguel Ángel Tejada, Ángeles Montilla-García, Enrique Javier Cobos, Germaine Escames, Dario Acuña-Castroviejo, Catarina M Quinzii, Luis Carlos López

EMBO Mol Med. 2015 May; 7(5): 670–687. Published online 2015 Mar 23. doi: 10.15252/emmm.201404632

PMCID:: PMC4492823

Abstract Article PDF–3.0M

Select item 44302976.

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 26810017.

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q₁₀ Deficiency: A Potentially Treatable Form of Mitochondrial Disease

Andrew J. Duncan, Maria Bitner-Glindzicz, Brigitte Meunier, Harry Costello, Iain P. Hargreaves, Luis C. López, Michio Hirano, Catarina M. Quinzii, Michael I. Sadowski, John Hardy, Andrew Singleton, Peter T. Clayton, Shamima Rahman

Am J Hum Genet. 2009 May 15; 84(5): 558–566. doi: 10.1016/j.ajhg.2009.03.018

PMCID:: PMC2681001

Abstract Article PDF–487K

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