未登录 A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ss-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy Bader, Ingrid; Freilinger, M.; Landauer, F.; Waldmueller, S.; Mueller-Felber, W.; Rauscher, C.; Sperl, W.; Bittner, R. E.; Schmidt, W. M.; Mayr, J. A. 分享 收藏
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families (vol 7, 32, 2021) Spenger, Johannes; Maier, Esther M.; Wechselberger, Katharina; Bauder, Florian; Kocher, Melanie; Sperl, Wolfgang; Preisel, Martin; Schiergens, Katharina A.; Konstantopoulou, Vassiliki; Roschinger, Wulf; Haberle, Johannes; Schmitt-Mechelke, Thomas; Wortmann, Saskia B.; Fingerhut, Ralph 分享 收藏
Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families 新生儿筛查漏诊的I型戊二酸尿症：来自三个家系的四例报告 Spenger, Johannes; Maier, Esther M.; Wechselberger, Katharina; Bauder, Florian; Kocher, Melanie; Sperl, Wolfgang; Preisel, Martin; Schiergens, Katharina A.; Konstantopoulou, Vassiliki; Roeschinger, Wulf; Haberle, Johannes; Schmitt-Mechelke, Thomas; Wortmann, Saskia B.; Fingerhut, Ralph 分享 收藏
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder SSBP1突变导致复杂的视神经萎缩疾病的mtDNA耗竭 Del Dotto, Valentina; Ullah, Farid; Di Meo, Ivano; Magini, Pamela; Gusic, Mirjana; Maresca, Alessandra; Caporali, Leonardo; Palombo, Flavia; Tagliavini, Francesca; Baugh, Evan Harris; Macao, Bertil; Szilagyi, Zsolt; Peron, Camille; Gustafson, Margaret A.; Khan, Kamal; La Morgia, Chiara; Barboni, Piero; Carbonelli, Michele; Valentino, Maria Lucia; Liguori, Rocco; Shashi, Vandana; Sullivan, Jennifer; Nagaraj, Shashi; El-Dairi, Mays; Iannaccone, Alessandro; Cutcutache, Ioana; Bertini, Enrico; Carrozzo, Rosalba; Emma, Francesco; Diomedi-Camassei, Francesca; Zanna, Claudia; Armstrong, Martin; Page, Matthew; Stong, Nicholas; Boesch, Sylvia; Kopajtich, Robert; Wortmann, Saskia; Sperl, Wolfgang; Davis, Erica E.; Copeland, William C.; Seri, Marco; Falkenberg, Maria; Prokisch, Holger; Katsanis, Nicholas; Tiranti, Valeria; Pippucci, Tommaso; Carelli, Valerio 分享 收藏
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency Alston, Charlotte L.; Heidler, Juliana; Dibley, Marris G.; Kremer, Laura S.; Taylor, Lucie S.; Fratter, Carl; French, Courtney E.; Glasgow, Ruth I. C.; Feichtinger, Rene G.; Delon, Isabelle; Pagnamenta, Alistair T.; Dolling, Helen; Lemonde, Hugh; Aiton, Neil; Bjornstad, Alf; Henneke, Lisa; Gaertner, Jutta; Thiele, Holger; Tauchmannova, Katerina; Quaghebeur, Gerardine; Houstek, Josef; Sperl, Wolfgang; Raymond, F. Lucy; Prokisch, Holger; Mayr, Johannes A.; McFarland, Robert; Poulton, Joanna; Ryan, Michael T.; Wittig, Ilka; Henneke, Marco; Taylor, Robert W. 分享 收藏
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.; Rotig, Agnes; Ardissone, Anna; Lombes, 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; Ding Wenhong; Lamantea, Eleonora; Ostergaard, Elsebet; Pronicka, Ewa; Pierre, Germaine; Smeets, Hubert J. M.; Wittig, Ilka; Scurr, Ingrid; de Coo, Irenaeus F. M.; Moroni, Isabella; Smet, Joel; 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-Cecile; Ling, Han; Fang Fang; Freisinger, Peter; Van Coster, Rudy; Strecker, Valentina; Taylor, Robert W.; Haeberle, Johannes; Vockley, Jerry; Prokisch, Holger; Wortmann, Saskia 分享 收藏
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Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies Gardeitchik, Thatjana; Mohamed, Miski; Ruzzenente, Benedetta; Karall, Daniela; Guerrero-Castillo, Sergio; Dalloyaux, Daisy; van den Brand, Mariel; van Kraaij, Sanne; van Asbeck, Ellyze; Assouline, Zahra; Rio, Marlene; de Lonlay, Pascale; Scholl-Buergi, Sabine; Wolthuis, David F. G. J.; Hoischen, Alexander; Rodenburg, Richard J.; Sperl, Wolfgang; Urban, Zsolt; Brandt, Ulrich; Mayr, Johannes A.; Wong, Sunnie; de Brouwer, Arjan P. M.; Nijtmans, Leo; Munnich, Arnold; Rotig, Agnes; Wevers, Ron A.; Metodiev, Metodi D.; Morava, Eva 分享 收藏
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy Piekutowska-Abramczuk, Dorota; Assouline, Zahra; Matakovic, Lavinija; Feichtinger, Rene G.; Konarikova, Eliska; Jurkiewicz, Elzbieta; Stawinski, Piotr; Gusic, Mirjana; Koller, Andreas; Pollak, Agnieszka; Gasperowicz, Piotr; Trubicka, Joanna; Ciara, Elzbieta; Iwanicka-Pronicka, Katarzyna; Rokicki, Dariusz; Hanein, Sylvain; Wortmann, Saskia B.; Sperl, Wolfgang; Rotig, Agnes; Prokisch, Holger; Pronicka, Ewa; Ploski, Rafa; Barcia, Giulia; Mayr, Johannes A. 分享 收藏
Melanoma tumors exhibit a variable but distinct metabolic signature Feichtinger, Rene G.; Lang, Roland; Geilberger, Reinhard; Rathje, Florian; Mayr, Johannes A.; Sperl, Wolfgang; Bauer, Johann W.; Hauser-Kronberger, Cornelia; Kofler, Barbara; Emberger, Michael 分享 收藏
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases Maas, Roeltje R.; Iwanicka-Pronicka, Katarzyna; Ucar, Sema Kalkan; Alhaddad, Bader; AlSayed, Moeenaldeen; Al-Owain, Mohammed A.; Al-Zaidan, Hamad I.; Balasubramaniam, Shanti; Baric, Ivo; Bubshait, Dalal K.; Burlina, Alberto; Christodoulou, John; Chung, Wendy K.; Colombo, Roberto; Darin, Niklas; Freisinger, Peter; Garcia Silva, Maria Teresa; Grunewald, Stephanie; Haack, Tobias B.; van Hasselt, Peter M.; Hikmat, Omar; Hoerster, Friederike; Isohanni, Pirjo; Ramzan, Khushnooda; Kovacs-Nagy, Reka; Krumina, Zita; Martin-Hernandez, Elena; Mayr, Johannes A.; McClean, Patricia; De Meirleir, Linda; Naess, Karin; Ngu, Lock H.; Pajdowska, Magdalena; Rahman, Shamima; Riordan, Gillian; Riley, Lisa; Roeben, Benjamin; Rutsch, Frank; Santer, Rene; Schiff, Manuel; Seders, Martine; Sequeira, Silvia; Sperl, Wolfgang; Staufner, Christian; Synofzik, Matthis; Taylor, Robert W.; Trubicka, Joanna; Tsiakas, Konstantinos; Unal, Ozlem; Wassmer, Evangeline; Wedatilake, Yehani; Wolff, Toni; Prokisch, Holger; Morava, Eva; Pronicka, Ewa; Wevers, Ron A.; de Brouwer, Arjan P.; Wortmann, Saskia B. 分享 收藏
LYRM7-associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study Hempel, Maja; Kremer, Laura S.; Tsiakas, Konstantinos; Alhaddad, Bader; Haack, Tobias B.; Loebel, Ulrike; Feichtinger, Rene G.; Sperl, Wolfgang; Prokisch, Holger; Mayr, Johannes A.; Santer, Rene 分享 收藏
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy Wortmann, Saskia B.; Timal, Sharita; Venselaar, Hanka; Wintjes, Liesbeth T.; Kopajtich, Robert; Feichtinger, Rene G.; Onnekink, Carla; Muhlmeister, Mareike; Brandt, Ulrich; Smeitink, Jan A.; Veltman, Joris A.; Sperl, Wolfgang; Lefeber, Dirk; Pruijn, Ger; Stojanovic, Vesna; Freisinger, Peter; von Spronsen, Francjan; Derks, Terry G. J.; Veenstra-Knol, Hermine E.; Mayr, Johannes A.; Rotig, Agnes; Tarnopolsky, Mark; Prokisch, Holger; Rodenburg, Richard J. 分享 收藏
Molecular and clinical spectra of FBXL4 deficiency El-Hattab, Ayman W.; Dai, Hongzheng; Almannai, Mohammed; Wang, Julia; Faqeih, Eissa A.; Al Asmari, Ali; Saleh, Mohammed A. M.; Elamin, Mohammed A. O.; Alfadhel, Majid; Alkuraya, Fowzan S.; Hashem, Mais; Aldosary, Mazhor S.; Almass, Rawan; Almutairi, Faten B.; Alsagob, Maysoon; Al-Owain, Mohammed; Al-Sharfa, Shirin; Al-Hassnan, Zuhair N.; Rahbeeni, Zuhair; Al-Muhaizea, Mohammed A.; Makhseed, Nawal; Foskett, Gretchen K.; Stevenson, David A.; Gomez-Ospina, Natalia; Lee, Chung; Boles, Richard G.; Vergano, Samantha A. Schrier; Wortmann, Saskia B.; Sperl, Wolfgang; Opladen, Thomas; Hoffmann, Georg F.; Hempel, Maja; Prokisch, Holger; Alhaddad, Bader; Mayr, Johannes A.; Chan, Wenyaw; Kaya, Namik; Wong, Lee-Jun C. 分享 收藏
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies Feichtinger, Rene G.; Olahova, Monika; Kishita, Yoshihito; Garone, Caterina; Kremer, Laura S.; Yagi, Mikako; Uchiumi, Takeshi; Jourdain, Alexis A.; Thompson, Kyle; D'Souza, Aaron R.; Kopajtich, Robert; Alston, Charlotte L.; Koch, Johannes; Sperl, Wolfgang; Mastantuono, Elisa; Strom, Tim M.; Wortmann, Saskia B.; Meitinger, Thomas; Pierre, Germaine; Chinnery, Patrick F.; Chrzanowska-Lightowlers, Zofia M.; Lightowlers, Robert N.; DiMauro, Salvatore; Calvo, Sarah E.; Mootha, Vamsi K.; Moggio, Maurizio; Sciacco, Monica; Comi, Giacomo P.; Ronchi, Dario; Murayama, Kei; Ohtake, Akira; Rebelo-Guiomar, Pedro; Kohda, Masakazu; Kang, Dongchon; Mayr, Johannes A.; Taylor, Robert W.; Okazaki, Yasushi; Minczuk, Michal; Prokisch, Holger 分享 收藏
Variable but distinct metabolic signature in malignant melanoma Lang, R.; Feichtinger, R. G.; Geilberger, R.; Rathje, F.; Mayr, J. A.; Sperl, W.; Bauer, J. W.; Hauser-Kronberger, C.; Emberger, M.; Kofler, B. 分享 收藏
CAD mutations and uridine-responsive epileptic encephalopathy CAD突变与尿苷反应性癫痫性脑病 Koch, Johannes; Mayr, Johannes A.; Alhaddad, Bader; Rauscher, Christian; Bierau, Joergen; 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. 分享 收藏
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition Kuechler, Alma; Czeschik, Johanna Christina; Graf, Elisabeth; Grasshoff, Ute; Hueffmeier, Ulrike; Busa, Tiffany; Beck-Woedl, Stefanie; Faivre, Laurence; Riviere, Jean-Baptiste; Bader, Ingrid; Koch, Johannes; Reis, Andre; Hehr, Ute; Rittinger, Olaf; Sperl, Wolfgang; Haack, Tobias B.; Wieland, Thomas; Engels, Hartmut; Prokisch, Holger; Strom, Tim M.; Luedecke, Hermann-Josef; Wieczorek, Dagmar 分享 收藏
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 Kennedy, Hannah; Haack, Tobias B.; Hartill, Verity; Matakovic, Lavinija; Baumgartner, E. Regula; Potter, Howard; Mackay, Richard; Alston, Charlotte L.; O'Sullivan, Siobhan; McFarland, Robert; Connolly, Grainne; Gannon, Caroline; King, Richard; Mead, Scott; Crozier, Ian; Chan, Wandy; Florkowski, Chris M.; Sage, Martin; Hofken, Thomas; Alhaddad, Bader; Kremer, Laura S.; Kopajtich, Robert; Feichtinger, Rene G.; Sperl, Wolfgang; Rodenburg, Richard J.; Minet, Jean Claude; Dobbie, Angus; Strom, Tim M.; Meitinger, Thomas; George, Peter M.; Johnson, Colin A.; Taylor, Robert W.; Prokisch, Holger; Doudney, Kit; Mayr, Johannes A. 分享 收藏
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