Mitochondrial disease with renal damage:one case report by Deng Jin-xiu, Wu Sen-chao, Qiu Zhao-wen, Guo Chun-hua, Lin Chong-yun, Wang Fu-zhen

Subjects: “…Mitochondrial disease…”
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Preliminary investigation on the economic cost of mitochondrial disease in Chinese children by Chaolong Xu, Dan Zhao, Xin Duan, Zhimei Liu, Tongyue Li, Yunxi Zhang, Zixuan Zhang, Tianyu Song, Ying Zou, Huafang Jiang, Fang Fang

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Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases by Sarah L. Stenton, Kristen Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia, Ikeoluwa Osei-Owusu, Lynn Pais, Emily O’Heir, Christina Austin-Tse, Melanie O’Leary, Mayada Abu Shanap, Chelsea Barrows, Seth Berger, Carsten G. Bönnemann, Kinga M. Bujakowska, Dean R. Campagna, Alison G. Compton, Sandra Donkervoort, Mark D. Fleming, Lyndon Gallacher, Joseph G. Gleeson, Goknur Haliloglu, Eric A. Pierce, Emily M. Place, Vijay G. Sankaran, Akiko Shimamura, Zornitza Stark, Tiong Yang Tan, David R. Thorburn, Susan M. White, Maha S. Zaki, Eric Vilain, Monkol Lek, Heidi L. Rehm, Anne O’Donnell-Luria

Subjects: “…mitochondrial disease…”
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ALPERS-HUTTENLOCHER SYNDROME by T. T. Batysheva, V. M. Trepilets, L. Ya. Akhadova, G. S. Golosnaya

Subjects: “…mitochondrial disease…”
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Outcome of Mitochondrial Diseases by J Gordon Millichap

Subjects: “…mitochondrial disease criteria…”
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Two cases of neonatal hyperglycemia caused by a homozygous COQ9 stop‐gain variant by Russell Donis, Maryam Al Badi, Nadia Alhashmi, Andrew T Hattersley, Sarah E Flanagan, Elisa De Franco

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Expanded‐Access Use of Elamipretide Improves Quality of Life in Patients With Rare Mitochondrial Disorders Characterized by Ophthalmic Symptoms: A Case Series by Sharique Ansari, Mary Kay Koenig

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CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome by Marta Luna‐Sánchez, Agustín Hidalgo‐Gutiérrez, Tatjana M Hildebrandt, Julio Chaves‐Serrano, Eliana Barriocanal‐Casado, Ángela Santos‐Fandila, Miguel Romero, Ramy KA Sayed, Juan Duarte, Holger Prokisch, Markus Schuelke, Felix Distelmaier, Germaine Escames, Darío Acuña‐Castroviejo, Luis C López

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Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes by Silvia Vidali, Raffaele Gerlini, Kyle Thompson, Jill E Urquhart, Jana Meisterknecht, Juan Antonio Aguilar‐Pimentel, Oana V Amarie, Lore Becker, Catherine Breen, Julia Calzada‐Wack, Nirav F Chhabra, Yi‐Li Cho, Patricia da Silva‐Buttkus, René G Feichtinger, Kristine Gampe, Lillian Garrett, Kai P Hoefig, Sabine M Hölter, Elisabeth Jameson, Tanja Klein‐Rodewald, Stefanie Leuchtenberger, Susan Marschall, Philipp Mayer‐Kuckuk, Gregor Miller, Manuela A Oestereicher, Kristina Pfannes, Birgit Rathkolb, Jan Rozman, Charlotte Sanders, Nadine Spielmann, Claudia Stoeger, Marten Szibor, Irina Treise, John H Walter, Wolfgang Wurst, Johannes A Mayr, Helmut Fuchs, Ulrich Gärtner, Ilka Wittig, Robert W Taylor, William G Newman, Holger Prokisch, Valerie Gailus‐Durner, Martin Hrabě de Angelis

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MSTO1 is a cytoplasmic pro‐mitochondrial fusion protein by Aniko Gal, Peter Balicza, David Weaver, Shamim Naghdi, Suresh K Joseph, Péter Várnai, Tibor Gyuris, Attila Horváth, Laszlo Nagy, Erin L Seifert, Maria Judit Molnar, György Hajnóczky

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The quality and detection limits of mitochondrial heteroplasmy by long read nanopore sequencing by Barbara Slapnik, Robert Šket, Klementina Črepinšek, Tine Tesovnik, Barbara Jenko Bizjan, Jernej Kovač

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Mitochondrial disease in adults: what's old and what's new? by Patrick F Chinnery

Subjects: “…mitochondrial disease…”
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Frequently Suspected, Rarely Confirmed: The Complex Diagnostic Journey of Adult-Onset MELAS—Clinical Evaluation and Cost Implications by Sebastian Finkener, Arkady Ovchinnikov, Ronald Bauer, Michael Diepers, Markus Gschwind

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Mitochondrial cardiomyopathies: navigating through different clinical and management pictures between adult and paediatric forms by Rachele Adorisio, Nicoletta Cantarutti, Barbara Siri, Barbara Siri, Elisa Bellettini, Gessica Ingrasciotta, Erica Mencarelli, Francesca Graziani, Rosa Lillo, Sara Di Marzio, Corrado Di Mambro, Fabrizio Drago, Antonio Amodeo, Diego Martinelli

Subjects: “…mitochondrial disease…”
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Evaluating the efficacy of vatiquinone in preclinical models of Leigh syndrome and GPX4 deficiency by Ernst-Bernhard Kayser, Michael Mulholland, Elizaveta A. Olkhova, Yihan Chen, Holly Coulson, Owen Cairns, Vivian Truong, Katerina James, Brittany M. Johnson, Allison Hanaford, Simon C. Johnson

Subjects: “…Mitochondrial disease…”
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Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis by Gabriele Civiletto, Sukru Anil Dogan, Raffaele Cerutti, Gigliola Fagiolari, Maurizio Moggio, Costanza Lamperti, Cristiane Benincá, Carlo Viscomi, Massimo Zeviani

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Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I by Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Andrea Legati, Eleonora Lamantea, Jana Meisterknecht, Manuela Spagnolo, Langping He, Seham Alameer, Fahad Hakami, Abeer Almehdar, Anna Ardissone, Charlotte L Alston, Robert McFarland, Ilka Wittig, Daniele Ghezzi, Robert W Taylor

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FBXL4 deficiency increases mitochondrial removal by autophagy by David Alsina, Oleksandr Lytovchenko, Aleksandra Schab, Ilian Atanassov, Florian A Schober, Min Jiang, Camilla Koolmeister, Anna Wedell, Robert W Taylor, Anna Wredenberg, Nils‐Göran Larsson

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N-acetyl-L-cysteine improves mitochondrial and oxidative defects in the acadian variant of fanconi syndrome by Inas Al-Younis, Inas Al-Younis, Rebeca Martín-Jiménez, Rebeca Martín-Jiménez, Mehtab Khan, Mehtab Khan, Yann Baussan, Yann Baussan, Caroline Jose, Yves Thibeault, Etienne Hebert-Chatelain, Etienne Hebert-Chatelain

Subjects: “…mitochondrial disease…”
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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability by Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A de Moura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls

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