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

Get full text

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease by John P Grady, Sarah J Pickett, Yi Shiau Ng, Charlotte L Alston, Emma L Blakely, Steven A Hardy, Catherine L Feeney, Alexandra A Bright, Andrew M Schaefer, Gráinne S Gorman, Richard JQ McNally, Robert W Taylor, Doug M Turnbull, Robert McFarland

Get full text

Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion by Ana Cotta, Charlotte L. Alston, Sidney Baptista‐Junior, Julia F. Paim, Elmano Carvalho, Monica M. Navarro, Marie Appleton, Yi Shiau Ng, Jaquelin Valicek, Antonio L. da‐Cunha‐Junior, Maria I. Lima, Alessandra de laRocque Ferreira, Reinaldo I. Takata, Iain P. Hargreaves, Gráinne S. Gorman, Robert McFarland, Germaine Pierre, Robert W. Taylor

Get full text

Clinical, biochemical, and genetic spectrum of seven new patients with NFU1 deficiency by Uwe eAhting, Johannes A Mayr, Arnaud V Vanlander, Steven A Hardy, Saikat eSantra, Christine eMakowski, Charlotte L Alston, Franz A Zimmermann, Lucia eAbela, Barbara ePlecko, Marianne eRohrbach, Stephanie eSpranger, Sara eSeneka, Boris eRolinski, Angela eHagendorff, Maja eHempel, Wolfgang eSperl, Thomas eMeitinger, Thomas eMeitinger, Joél eSmet, Robert W Taylor, Rudy eVan Coster, Peter eFreisinger, Holger eProkisch, Holger eProkisch, Tobias Bernd Haack, Tobias Bernd Haack

Get full text

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load by Yi Shiau Ng, Nichola Z. Lax, Paul Maddison, Charlotte L. Alston, Emma L. Blakely, Philippa D. Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F. Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A. Morris, Smaragda Kamakari, Georgia Chrousos, Richard J. Rodenburg, Christiaan G.J. Saris, Catherine Feeney, Steven A. Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G. Hanna, Akira Ohtake, Andrew M. Schaefer, Mike P. Champion, Doug M. Turnbull, Robert W. Taylor, Robert D.S. Pitceathly, Robert McFarland, Gráinne S. Gorman

Get full text

Clinical implementation of RNA sequencing for Mendelian disease diagnostics by Vicente A. Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, Maja Hempel, Yulia S. Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana D. Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela F. Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L. Stenton, Tim M. Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A. Mayr, Dorota Piekutowska-Abramczuk, Antonia Ribes, Agnès Rötig, Robert W. Taylor, Saskia B. Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch

Get full text

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? by Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Ding Wenhong, Eleonora Lamantea, Elsebet Ostergaard, Ewa Pronicka, Germaine Pierre, Hubert J. M. Smeets, Ilka Wittig, Ingrid Scurr, Irenaeus F. M. de Coo, Isabella Moroni, Joél Smet, Johannes A. Mayr, Lifang Dai, Linda de Meirleir, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie-Cecile Nassogne, Han Ling, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W. Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia Wortmann

Get full text