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Ophthalmic Genetics Volume 38, 2017 - Issue 4
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Research Reports

Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations

Ulrich KellnerZentrum für Seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Siegburg, Germany;RetinaScience, Bonn, GermanyCorrespondence[email protected]
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,
Heidi StöhrInstitut für Humangenetik, Universität Regensburg, Regensburg, GermanyView further author information
,
Silke WeinitzZentrum für Seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Siegburg, Germany;RetinaScience, Bonn, GermanyView further author information
,
Ghazaleh FarmandZentrum für Seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Siegburg, GermanyView further author information
&
Bernhard H. F. WeberInstitut für Humangenetik, Universität Regensburg, Regensburg, GermanyView further author information
Pages 340-344 | Received 28 Jul 2016, Accepted 12 Aug 2016, Published online: 17 Jan 2017

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Annalisa Marcuzzi, Elisa Piscianz, Liza Vecchi Brumatti & Alberto Tommasini. (2017) Mevalonate kinase deficiency: therapeutic targets, treatments, and outcomes. Expert Opinion on Orphan Drugs 5:6, pages 515-524.
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Articles from other publishers (12)

Eva M. M. Hoytema van Konijnenburg, Esmeralda Oussoren, Joost Frenkel & Peter M. van Hasselt. (2022) Isolated neurological presentations of mevalonate kinase deficiency. JIMD Reports 64:1, pages 53-56.
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Joshua Disatham, Lisa Brennan, Xiaodong Jiao, Zhiwei Ma, J. Fielding Hejtmancik & Marc Kantorow. (2022) Changes in DNA methylation hallmark alterations in chromatin accessibility and gene expression for eye lens differentiation. Epigenetics & Chromatin 15:1.
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Anna Dvaladze, Erika Tavares, Matteo Di Scipio, Graeme Nimmo, Monika K. Grudzinska‐Pechhacker, Tara Paton, Anupreet Tumber, Shuning Li, Christabel Eileen, Birgit Ertl‐Wagner, Eva Mamak, Georg Hoffmann, Christian R. Marshall, Dorothea Haas, Ertan Mayatepek, Andreas Schulze, Elise Heon & Ajoy Vincent. (2022) Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa . Clinical Genetics 102:6, pages 524-529.
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Isabelle Touitou. (2022) Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review. Genes & Diseases 9:4, pages 1000-1007.
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Inès Elhani, Véronique Hentgen, Gilles Grateau & Sophie Georgin-Lavialle. (2022) Neurological manifestations in mevalonate kinase deficiency: A systematic review. Molecular Genetics and Metabolism 136:2, pages 85-93.
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Tatjana Welzel & Jasmin B. Kuemmerle-Deschner. 2022. Pädiatrische Rheumatologie. Pädiatrische Rheumatologie 775 782 .
Frouwkje A. Politiek & Hans R. Waterham. (2021) Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency. Frontiers in Immunology 12.
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Hélène Choquet, Ronald B. Melles, Deepti Anand, Jie Yin, Gabriel Cuellar-Partida, Wei Wang, Thomas J. Hoffmann, K. Saidas Nair, Pirro G. Hysi, Salil A. Lachke & Eric Jorgenson. (2021) A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects. Nature Communications 12:1.
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Guilaine Boursier, Cécile Rittore, Florian Milhavet, Laurence Cuisset & Isabelle Touitou. (2021) Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation. Journal of Clinical Medicine 10:8, pages 1552.
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Tatjana Welzel & Jasmin Kuemmerle-Deschner. 2020. Pädiatrische Rheumatologie. Pädiatrische Rheumatologie 1 8 .
Juan Darío Ortigoza-Escobar. (2020) A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders. Frontiers in Neurology 11.
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Carla Gaggiano, Donato Rigante, Antonio Vitale, Orso Maria Lucherini, Alessandra Fabbiani, Giovanna Capozio, Chiara Marzo, Viviana Gelardi, Salvatore Grosso, Bruno Frediani, Alessandra Renieri & Luca Cantarini. (2019) Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases. Mediators of Inflammation 2019, pages 1-29.
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