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Displaying 3 results.
    • Journal article
    Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
    Lardelli, Rea M Schaffer, Ashleigh E Eggens, Veerle R C Zaki, Maha S Grainger, Stephanie Sathe, Shashank Van Nostrand, Eric L Schlachetzki, Zinayida Rosti, Basak Akizu, Naiara Scott, Eric Silhavy, Jennifer L Heckman, Laura Dean Rosti, Rasim Ozgur Dikoglu, Esra Gregor, Anne Guemez-Gamboa, Alicia Musaev, Damir Mande, Rohit Widjaja, Ari Shaw, Tim L Markmiller, Sebastian Marin-Valencia, Isaac Davies, Justin H de Meirleir, Linda Kayserili, Hulya Altunoglu, Umut Freckmann, Mary Louise Warwick, Linda Chitayat, David Blaser, Susan Çağlayan, Ahmet Okay Bilguvar, Kaya Per, Huseyin Fagerberg, Christina Christesen, Henrik T Kibaek, Maria Aldinger, Kimberly A Manchester, David Matsumoto, Naomichi Muramatsu, Kazuhiro Saitsu, Hirotomo Shiina, Masaaki Ogata, Kazuhiro Foulds, Nicola Dobyns, William B Chi, Neil C Traver, David Spaccini, Luigina Bova, Stefania Maria Gabriel, Stacey B Gunel, Murat Valente, Enza Maria Nassogne, Marie-Cécile[UCL] Bennett, Eric J Yeo, Gene W Baas, Frank Lykke-Andersen, Jens Gleeson, Joseph G (2017) Nature Genetics — Vol. 49, no. 3, p. 457-464 (2017)
    • Journal article
    Multiple phenotypes in phosphoglucomutase 1 deficiency.
    Tegtmeyer, Laura C Rust, Stephan van Scherpenzeel, Monique Ng, Bobby G Losfeld, Marie-Estelle Timal, Sharita Raymond, Kimiyo He, Ping Ichikawa, Mie Veltman, Joris Huijben, Karin Shin, Yoon S Sharma, Vandana Adamowicz, Maciej Lammens, Martin Reunert, Janine Witten, Anika Schrapers, Esther Matthijs, Gert Jaeken, Jaak Rymen, Daisy Stojkovic, Tanya Laforêt, Pascal Petit, François Aumaître, Olivier Czarnowska, Elzbieta Piraud, Monique Podskarbi, Teodor Stanley, Charles A Matalon, Reuben Burda, Patricie Seyyedi, Soraya Debus, Volker Socha, Piotr Sykut-Cegielska, Jolanta van Spronsen, Francjan de Meirleir, Linda Vajro, Pietro DeClue, Terry Ficicioglu, Can Wada, Yoshinao Wevers, Ron A Vanderschaeghe, Dieter Callewaert, Nico Fingerhut, Ralph Van Schaftingen, Emile[UCL] Freeze, Hudson H Morava, Eva Lefeber, Dirk J Marquardt, Thorsten (2014) New England Journal of Medicine — Vol. 370, no.6, p. 533-42 (2014)
    • Journal article
    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
    Repp, Birgit M. Mastantuono, Elisa Alston, Charlotte L. Schiff, Manuel Haack, Tobias B. Rötig, Agnes Ardissone, Anna Lombès, Anne Catarino, Claudia B. Diodato, Daria Schottmann, Gudrun Poulton, Joanna Burlina, Alberto Jonckheere, An Munnich, Arnold Rolinski, Boris Ghezzi, Daniele Rokicki, Dariusz Wellesley, Diana Martinelli, Diego Wenhong, Ding Lamantea, Eleonora Ostergaard, Elsebet Pronicka, Ewa Pierre, Germaine Smeets, Hubert J. M. Wittig, Ilka Scurr, Ingrid de Coo, Irenaeus F. M. Moroni, Isabella Smet, Joél Mayr, Johannes A. Dai, Lifang de Meirleir, Linda Schuelke, Markus Zeviani, Massimo Morscher, Raphael J. McFarland, Robert Seneca, Sara Klopstock, Thomas Meitinger, Thomas Wieland, Thomas Strom, Tim M. Herberg, Ulrike Ahting, Uwe Sperl, Wolfgang Nassogne, Marie-Cécile[UCL] Ling, Han Fang, Fang Freisinger, Peter Van Coster, Rudy Strecker, Valentina Taylor, Robert W. Häberle, Johannes Vockley, Jerry Prokisch, Holger Wortmann, Saskia (2018) Orphanet Journal of Rare Diseases — Vol. 13, no. 1, p. 120 [1-10] (2018)