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Items: 11

Select item 62692941.

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

Lisa G. Riley, Matthew M. Heeney, Joëlle Rudinger-Thirion, Magali Frugier, Dean R. Campagna, Ronghao Zhou, Gregory A. Hale, Lee M. Hilliard, Joel A. Kaplan, Janet L. Kwiatkowski, Colin A. Sieff, David P. Steensma, Alexander J. Rennings, Annet Simons, Nicolaas Schaap, Richard J. Roodenburg, Tjitske Kleefstra, Leonor Arenillas, Josep Fita-Torró, Rasha Ahmed, Miguel Abboud, Elie Bechara, Roula Farah, Rienk Y. J. Tamminga, Sylvia S. Bottomley, Mayka Sanchez, Gerwin Huls, Dorine W. Swinkels, John Christodoulou, Mark D. Fleming

Haematologica. 2018 Dec; 103(12): 2008–2015. Prepublished online 2018 Jul 19. doi: 10.3324/haematol.2017.182659

PMCID:: PMC6269294

Abstract Article PDF–580K

Select item 43751182.

A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature

Anna Ardissone, Eleonora Lamantea, Jade Quartararo, Cristina Dallabona, Franco Carrara, Isabella Moroni, Claudia Donnini, Barbara Garavaglia, Massimo Zeviani, Graziella Uziel

JIMD Rep. 2015; 20: 95–101. Published online 2015 Feb 1. doi: 10.1007/8904_2014_397

PMCID:: PMC4375118

Abstract Article PDF–423K

Select item 71408743.

YARS2 Missense Variant in Belgian Shepherd Dogs with Cardiomyopathy and Juvenile Mortality

Corinne Gurtner, Petra Hug, Miriam Kleiter, Kernt Köhler, Elisabeth Dietschi, Vidhya Jagannathan, Tosso Leeb

Genes (Basel) 2020 Mar; 11(3): 313. Published online 2020 Mar 14. doi: 10.3390/genes11030313

PMCID:: PMC7140874

Abstract Article PDF–2.6M

Select item 69131484.

A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder

Eileen G. Daniels, Marielle Alders, Marco Lezzerini, Andrew McDonald, Marjolein Peters, Taco W. Kuijpers, Phillis Lakeman, Riekelt H. Houtkooper, Alyson W. MacInnes

Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004457. doi: 10.1101/mcs.a004457

PMCID:: PMC6913148

Abstract Article PDF–5.6M

Select item 58222125.

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

Ewen W. Sommerville, Yi Shiau Ng, Charlotte L. Alston, Cristina Dallabona, Micol Gilberti, Langping He, Charlotte Knowles, Sophie L. Chin, Andrew M. Schaefer, Gavin Falkous, David Murdoch, Cheryl Longman, Marianne de Visser, Laurence A. Bindoff, John M. Rawles, John C. S. Dean, Richard K. Petty, Maria E. Farrugia, Tobias B. Haack, Holger Prokisch, Robert McFarland, Douglass M. Turnbull, Claudia Donnini, Robert W. Taylor, Gráinne S. Gorman

JAMA Neurol. 2017 Jun; 74(6): 686–694. Published online 2017 Apr 10. doi: 10.1001/jamaneurol.2016.4357

PMCID:: PMC5822212

Abstract Article

Select item 47950406.

Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood

Metodi D Metodiev, Zahra Assouline, Pierre Landrieu, Dominique Chretien, Brigitte Bader-Meunier, Corinne Guitton, Arnold Munnich, Agnès Rötig

Eur J Hum Genet. 2015 Jun; 23(6): 880–882. Published online 2014 Sep 17. doi: 10.1038/ejhg.2014.192

PMCID:: PMC4795040

Abstract Article PDF–582K

Select item 42530707.

Mitochondrial Myopathy, Lactic Acidosis, and Sideroblastic Anemia (MLASA) Plus Associated with a novel De Novo Mutation (m.8969G>A) in the Mitochondrial Encoded ATP6 gene

Lindsay C. Burrage, Sha Tang, Jing Wang, Taraka R. Donti, Magdalena Walkiewicz, J. Michael Luchak, Li-Chieh Chen, Eric S. Schmitt, Zhiyv Niu, Rodrigo Erana, Jill V. Hunter, Brett H. Graham, Lee-Jun Wong, Fernando Scaglia

Mol Genet Metab. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Mol Genet Metab. 2014 Nov; 113(3): 207–212. Published online 2014 Jun 30. doi: 10.1016/j.ymgme.2014.06.004

PMCID:: PMC4253070

Abstract Article PDF–625K

Select item 38984798.

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

Abdulraheem Almalki, Charlotte L. Alston, Alasdair Parker, Ingrid Simonic, Sarju G. Mehta, Langping He, Mojgan Reza, Jorge M.A. Oliveira, Robert N. Lightowlers, Robert McFarland, Robert W. Taylor, Zofia M.A. Chrzanowska-Lightowlers

Biochim Biophys Acta. 2014 Jan; 1842(1): 56–64. doi: 10.1016/j.bbadis.2013.10.008

PMCID:: PMC3898479

Abstract Article PDF–1.6M

Select item 38847679.

A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations

Rojeen Shahni, Yehani Wedatilake, Maureen A Cleary, Keith J Lindley, Keith R Sibson, Shamima Rahman

Am J Med Genet A. 2013 Sep; 161(9): 2334–2338. Published online 2013 Aug 5. doi: 10.1002/ajmg.a.36065

PMCID:: PMC3884767

Abstract Article PDF–247K

Select item 387858010.

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia

Lisa G Riley, Minal J Menezes, Joëlle Rudinger-Thirion, Rachael Duff, Pascale de Lonlay, Agnes Rotig, Michel C Tchan, Mark Davis, Sandra T Cooper, John Christodoulou

Orphanet J Rare Dis. 2013; 8: 193. Published online 2013 Dec 17. doi: 10.1186/1750-1172-8-193

PMCID:: PMC3878580

Abstract Article PDF–958K

Select item 289677811.

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

Lisa G. Riley, Sandra Cooper, Peter Hickey, Joëlle Rudinger-Thirion, Matthew McKenzie, Alison Compton, Sze Chern Lim, David Thorburn, Michael T. Ryan, Richard Giegé, Melanie Bahlo, John Christodoulou

Am J Hum Genet. 2010 Jul 9; 87(1): 52–59. doi: 10.1016/j.ajhg.2010.06.001