Monogenic variants in dystonia: an exome-wide sequencing study by Zech, Michael, Jech, Robert, Boesch, Sylvia, Škorvánek, Matej, Weber, Sandrina, Wagner, Matias, Zhao, Chen, Jochim, Angela, Necpál, Ján, Vill, Katharina, Stoklosa, Malgorzata, Krenn, Martin, Grunwald, Stephan, Bock-Bierbaum, Tobias, Fečíková, Anna, Roth, Jan, Příhodová, Iva, Adamovičová, Miriam, Ulmanová, Olga, Bechyně, Karel, Danhofer, Pavlína, Veselý, Branislav, Haň, Vladimír, Gdovinová, Zuzana, Mantel, Tobias, Meindl, Tobias, Sitzberger, Alexandra, Schröder, Sebastian, Blaschek, Astrid, Roser, Timo, Bonfert, Michaela V, Haberlandt, Edda, Plecko, Barbara, Berweck, Steffen, Herberhold, Thomas, Langguth, Berthold, Švantnerová, Jana, Minár, Michal, Ramos-Rivera, Gonzalo Alonso, Wojcik, Monica H, Pajusalu, Sander, Õunap, Katrin, Pölsler, Laura, Milenkovic, Ivan, Laccone, Franco, Pilshofer, Veronika, Colombo, Roberto, Patzer, Steffi, Iuso, Arcangela, Vera, Julia, Troncoso, Monica, Fang, Fang, Wilbert, Friederike, Eckenweiler, Matthias, Graf, Elisabeth, Westphal, Dominik S, Riedhammer, Korbinian M, Alhaddad, Bader, Berutti, Riccardo, Strom, Tim M, Hecht, Martin, Baumann, Matthias, Wolf, Marc, Telegrafi, Aida, Person, Richard E, Zamora, Francisca Millan, Henderson, Lindsay B, Musacchio, Thomas, Volkmann, Jens, Szuto, Anna, Becker, Jessica, Cremer, Kirsten, Sycha, Thomas, Zimprich, Fritz, Kraus, Verena, Makowski, Christine, Gonzalez-Alegre, Pedro, Bardakjian, Tanya M, Ozelius, Laurie J, Vetro, Annalisa, Guerrini, Renzo, Maier, Esther, Borggraefe, Ingo, Kuster, Alice, Hackenberg, Annette, Steinfeld, Robert, Assmann, Birgit, Staufner, Christian, Opladen, Thomas, Růžička, Evžen, Cohn, Ronald D, Dyment, David, Chung, Wendy K, Engels, Hartmut, Ploski, Rafal, Daumke, Oliver, Haslinger, Bernhard, Mall, Volker, Oexle, Konrad, Winkelmann, Juliane

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Choline‐related‐inherited metabolic diseases—A mini review by Wortmann, Saskia B., Mayr, Johannes A.

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History of Repeated Bleeding from Intact Skin and Mucous Membranes: A Quiz by Wortmann, Saskia, Welponer, Tobias, Laimer, Martin

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Whole exome sequencing of suspected mitochondrial patients in clinical practice by Wortmann, Saskia B., Koolen, David A., Smeitink, Jan A., van den Heuvel, Lambert, Rodenburg, Richard J.

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Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease by Wagner, Matias, Berutti, Riccardo, Lorenz‐Depiereux, Bettina, Graf, Elisabeth, Eckstein, Gertrud, Mayr, Johannes A., Meitinger, Thomas, Ahting, Uwe, Prokisch, Holger, Strom, Tim M., Wortmann, Saskia B.

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Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app by Hoytema van Konijnenburg, Eva M M, Wortmann, Saskia B, Koelewijn, Marina J, Tseng, Laura A, Houben, Roderick, Stöckler-Ipsiroglu, Sylvia, Ferreira, Carlos R, van Karnebeek, Clara D M

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Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor by Wortmann, Saskia B., Van Hove, Johan L.K., Derks, Terry G.J., Chevalier, Nathalie, Knight, Vijaya, Koller, Andreas, Oussoren, Esmee, Mayr, Johannes A., van Spronsen, Francjan J., Lagler, Florian B., Gaughan, Sommer, Van Schaftingen, Emile, Veiga-da-Cunha, Maria

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Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety by Zweers, Heidi, van Wegberg, Annemiek M J, Janssen, Mirian C H, Wortmann, Saskia B

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Molecular structural diversity of mitochondrial cardiolipins by Oemer, Gregor, Lackner, Katharina, Muigg, Katharina, Krumschnabel, Gerhard, Watschinger, Katrin, Sailer, Sabrina, Lindner, Herbert, Gnaiger, Erich, Wortmann, Saskia B., Werner, Ernst R., Zschocke, Johannes, Keller, Markus A.

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Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia by Vaz, Frédéric M, McDermott, John H, Alders, Mariëlle, Wortmann, Saskia B, Kölker, Stefan, Pras-Raves, Mia L, Vervaart, Martin A T, van Lenthe, Henk, Luyf, Angela C M, Elfrink, Hyung L, Metcalfe, Kay, Cuvertino, Sara, Clayton, Peter E, Yarwood, Rebecca, Lowe, Martin P, Lovell, Simon, Rogers, Richard C, van Kampen, Antoine H C, Ruiter, Jos P N, Wanders, Ronald J A, Ferdinandusse, Sacha, van Weeghel, Michel, Engelen, Marc, Banka, Siddharth

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Treatable mitochondrial diseases: cofactor metabolism and beyond by Distelmaier, Felix, Haack, Tobias B, Wortmann, Saskia B, Mayr, Johannes A, Prokisch, Holger

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“Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing by Kremer, Laura S., Wortmann, Saskia B., Prokisch, Holger

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Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib by Grünert, Sarah C, Elling, Roland, Maag, Bärbel, Wortmann, Saskia B, Derks, Terry G. J, Hannibal, Luciana, Schumann, Anke, Rosenbaum-Fabian, Stefanie, Spiekerkoetter, Ute

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Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights by Tucker, Elena J, Baker, Megan J, Hock, Daniella H, Warren, Julia T, Jaillard, Sylvie, Bell, Katrina M, Sreenivasan, Rajini, Bakhshalizadeh, Shabnam, Hanna, Chloe A, Caruana, Nikeisha J, Wortmann, Saskia B, Rahman, Shamima, Pitceathly, Robert D S, Donadieu, Jean, Alimi, Aurelia, Launay, Vincent, Coppo, Paul, Christin-Maitre, Sophie, Robevska, Gorjana, van den Bergen, Jocelyn, Kline, Brianna L, Ayers, Katie L, Stewart, Phoebe N, Stroud, David A, Stojanovski, Diana, Sinclair, Andrew H

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Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia by Husain, Ralf A., Grimmel, Mona, Wagner, Matias, Hennings, J. Christopher, Marx, Christian, Feichtinger, René G., Saadi, Abdelkrim, Rostásy, Kevin, Radelfahr, Florentine, Bevot, Andrea, Döbler-Neumann, Marion, Hartmann, Hans, Colleaux, Laurence, Cordts, Isabell, Kobeleva, Xenia, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C., Besse, Arnaud, Ng, Andy Cheuk-Him, Chiang, Diana, Bolduc, Francois, Tafakhori, Abbas, Mane, Shrikant, Ghasemi Firouzabadi, Saghar, Huebner, Antje K., Buchert, Rebecca, Beck-Woedl, Stefanie, Müller, Amelie J., Laugwitz, Lucia, Nägele, Thomas, Wang, Zhao-Qi, Strom, Tim M., Sturm, Marc, Meitinger, Thomas, Klockgether, Thomas, Riess, Olaf, Klopstock, Thomas, Brandl, Ulrich, Hübner, Christian A., Deschauer, Marcus, Mayr, Johannes A., Bonnen, Penelope E., Krägeloh-Mann, Ingeborg, Wortmann, Saskia B., Haack, Tobias B.

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Mitochondrial Disease and Hearing Loss in Children: A Systematic Review by Roesch, Sebastian, O'Sullivan, Anna, Zimmermann, Georg, Mair, Alois, Lipuš, Cvetka, Mayr, Johannes A., Wortmann, Saskia B., Rasp, Gerd

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A case report: New-onset refractory status epilepticus in a patient with FASTKD2 -related mitochondrial disease by Astner-Rohracher, Alexandra, Mauritz, Matthias, Leitinger, Markus, Rossini, Fabio, Kalss, Gudrun, Neuray, Caroline, Retter, Elisabeth, Wortmann, Saskia B, Achleitner, Melanie T, Mayr, Johannes A, Trinka, Eugen

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A spoonful of L‐fucose—an efficient therapy for GFUS‐CDG, a new glycosylation disorder by Feichtinger, René G, Hüllen, Andreas, Koller, Andreas, Kotzot, Dieter, Grote, Valerian, Rapp, Erdmann, Hofbauer, Peter, Brugger, Karin, Thiel, Christian, Mayr, Johannes A, Wortmann, Saskia B

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CAD mutations and uridine-responsive epileptic encephalopathy by Koch, Johannes, Mayr, Johannes A, Alhaddad, Bader, Rauscher, Christian, Bierau, Jörgen, Kovacs-Nagy, Reka, Coene, Karlien L M, Bader, Ingrid, Holzhacker, Monika, Prokisch, Holger, Venselaar, Hanka, Wevers, Ron A, Distelmaier, Felix, Polster, Tilman, Leiz, Steffen, Betzler, Cornelia, Strom, Tim M, Sperl, Wolfgang, Meitinger, Thomas, Wortmann, Saskia B, Haack, Tobias B

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The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study by Krenn, Martin, Sener, Merve, Rath, Jakob, Zulehner, Gudrun, Keritam, Omar, Wagner, Matias, Laccone, Franco, Iglseder, Stephan, Marte, Sonja, Baumgartner, Manuela, Eisenkölbl, Astrid, Liechtenstein, Christian, Rudnik, Sabine, Quasthoff, Stefan, Grinzinger, Susanne, Spenger, Johannes, Wortmann, Saskia B., Löscher, Wolfgang N., Zimprich, Fritz, Kellersmann, Anna, Rappold, Mika, Bernert, Günther, Freilinger, Michael, Cetin, Hakan

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