Not logged in PIGN encephalopathy: Characterizing the epileptology Bayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G. Share Save
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance Stenton, Sarah L.; Piekutowska-Abramczuk, Dorota; Kulterer, Lea; Kopajtich, Robert; Claeys, Kristl G.; Ciara, Elzbieta; Eisen, Johannes; Ploski, Rafal; Pronicka, Ewa; Malczyk, Katarzyna; Wagner, Matias; Wortmann, Saskia B.; Prokisch, Holger Share Save
The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort Piekutowska-Abramczuk, Dorota; Kaliszewska, Magdalena; Sulek, Anna; Jurkowska, Natalia; Oltarzewski, Mariusz; Jablonska, Ewa; Trubicka, Joanna; Glowacka, Aleksandra; Ciara, Elzbieta; Kowalski, Pawel; Langiewicz-Wojciechowska, Karolina; Tesarova, Marketa; Zeman, Jiri; Kierdaszuk, Biruta; Kuczynski, Dariusz; Chmielewski, Dariusz; Szymanska, Edyta; Bakula, Agnieszka; Lusakowska, Anna; Lipowska, Marta; Brodacki, Bogdan; Pera, Joanna; Dorobek, Malgorzata; Rydzanicz, Malgorzata; Ploski, Rafal; Chrzanowska, Krystyna Halina; Bartnik, Ewa; Placha, Grzegorz; Kaminska, Anna; Kostera-Pruszczyk, Anna; Krajewska-Walasek, Malgorzata; Tonska, Katarzyna; Pronicka, Ewa Share Save
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis Hayhurst, Hannah; de Coo, Irenaeus F. M.; Piekutowska-Abramczuk, Dorota; Alston, Charlotte L.; Sharma, Sunil; Thompson, Kyle; Rius, Rocio; He, Langping; Hopton, Sila; Ploski, Rafal; Ciara, Elzbieta; Lake, Nicole J.; Compton, Alison G.; Delatycki, Martin B.; Verrips, Aad; Bonnen, Penelope E.; Jones, Simon A.; Morris, Andrew A.; Shakespeare, David; Christodoulou, John; Wesol-Kucharska, Dorota; Rokicki, Dariusz; Smeets, Hubert J. M.; Pronicka, Ewa; Thorburn, David R.; Gorman, Grainne S.; McFarland, Robert; Taylor, Robert W.; Ng, Yi Shiau Share Save
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 Share Save
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. Share Save
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease Bruni, Francesco; Di Meo, Ivano; Bellacchio, Emanuele; Webb, Bryn D.; McFarland, Robert; Chrzanowska-Lightowlers, Zofia M. A.; He, Langping; Skorupa, Ewa; Moroni, Isabella; Ardissone, Anna; Walczak, Anna; Tyynismaa, Henna; Isohanni, Pirjo; Mandel, Hanna; Prokisch, Holger; Haack, Tobias; Bonnen, Penelope E.; Enrico, Bertini; Pronicka, Ewa; Ghezzi, Daniele; Taylor, Robert W.; Diodato, Daria Share Save
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. Share Save
Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development? Piekutowska-Abramczuk, Dorota; Rutyna, Rafal; Czyzyk, Elzbieta; Jurkiewicz, Elzbieta; Iwanicka-Pronicka, Katarzyna; Rokicki, Dariusz; Stachowicz, Sylwia; Strzemecka, Joanna; Guz, Wiesaw; Gawronski, Michal; Kosierb, Aneta; Ligas, Joanna; Puchala, Mateusz; Drelich-Zbroja, Anna; Bednarska-Makaruk, Malgorzata; Dabrowski, Wojciech; Ciara, Elzbieta; Ksiazyk, Janusz B.; Pronicka, Ewa Share Save
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency Rokicki, Dariusz; Pajdowska, Magdalena; Trubicka, Joanna; Meow-Keong Thong; Ciara, Elzbieta; Piekutowska-Abramczuk, Dorota; Pronicki, Maciej; Sikora, Roman; Haidar, Rijad; Oltarzewski, Mariusz; Jablonska, Ewa; Muthukumarasamy, Premala; Sthaneswar, Pavai; Gan, Chin-Seng; Krajewska-Walasek, Malgorzata; Carrozzo, Rosalba; Verrigni, Daniela; Semeraro, Michela; Rizzo, Cristiano; Taurisano, Roberta; Alhaddad, Bader; Kovacs-Nagy, Reka; Haack, Tobias B.; Dionisi-Vici, Carlo; Pronicka, Ewa; Wortmann, Saskia B. Share Save
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood Kremer, Laura S.; Danhauser, Katharina; Herebian, Diran; Ramadza, Danijela Petkovic; Piekutowska-Abramczuk, Dorota; Seibt, Annette; Mueller-Felber, Wolfgang; Haack, Tobias B.; Ploski, Rafal; Lohmeier, Klaus; Schneider, Dominik; Klee, Dirk; Rokicki, Dariusz; Mayatepek, Ertan; Strom, Tim M.; Meitinger, Thomas; Klopstock, Thomas; Pronicka, Ewa; Mayr, Johannes A.; Baric, Ivo; Distelmaier, Felix; Prokisch, Holger Share Save
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype Alston, Charlotte L.; Compton, Alison G.; Formosa, Luke E.; Strecker, Valentina; Olahova, Monika; Haack, Tobias B.; Smet, Joel; Stouffs, Katrien; Diakumis, Peter; Ciara, Elzbieta; Cassiman, David; Romain, Nadine; Yarham, John W.; He, Langping; De Paepe, Boel; Vanlander, Arnaud V.; Seneca, Sara; Feichtinger, Rene G.; Poski, Rafal; Rokicki, Dariusz; Pronicka, Ewa; Haller, Ronald G.; Van Hove, Johan L. K.; Bahlo, Melanie; Mayr, Johannes A.; Van Coster, Rudy; Prokisch, Holger; Wittig, Ilka; Ryan, Michael T.; Thorburn, David R.; Taylor, Robert W. Share Save
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre Pronicka, Ewa; Piekutowska-Abramczuk, Dorota; Ciara, Elzbieta; Trubicka, Joanna; Rokicki, Dariusz; Karkucinska-Wieckowska, Agnieszka; Pajdowska, Magdalena; Jurkiewicz, Elzbieta; Halat, Paulina; Kosinska, Joanna; Pollak, Agnieszka; Rydzanicz, Malgorzata; Stawinski, Piotr; Pronicki, Maciej; Krajewska-Walasek, Malgorzata; Ploski, Rafal Share Save
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia Schlingmann, Karl P.; Ruminska, Justyna; Kaufmann, Martin; Dursun, Ismail; Patti, Monica; Kranz, Birgitta; Pronicka, Ewa; Ciara, Elzbieta; Akcay, Teoman; Bulus, Derya; Cornelissen, Elisabeth A. M.; Gawlik, Aneta; Sikora, Przemyslaw; Patzer, Ludwig; Galiano, Matthias; Boyadzhiev, Veselin; Dumic, Miroslav; Vivante, Asaf; Kleta, Robert; Dekel, Benjamin; Levtchenko, Elena; Bindels, Rene J.; Rust, Stephan; Forster, Ian C.; Hernando, Nati; Jones, Glenville; Wagner, Carsten A.; Konrad, Martin Share Save
Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease Kaliszewska, Magdalena; Kruszewski, Jakub; Kierdaszuk, Biruta; Kostera-Pruszczyk, Anna; Nojszewska, Monika; Lusakowska, Anna; Vizueta, Joel; Sabat, Dorota; Lutyk, Dorota; Lower, Michal; Piekutowska-Abramczuk, Dorota; Kaniak-Golik, Aneta; Pronicka, Ewa; Kaminska, Anna; Bartnik, Ewa; Golik, Pawe; Tonska, Katarzyna Share Save
CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder Wortmann, Saskia B.; Zietkiewicz, Szymon; Kousi, Maria; Szklarczyk, Radek; Haack, Tobias B.; Gersting, Soren W.; Muntau, Ania C.; Rakovic, Aleksandar; Renkema, G. Herma; Rodenburg, Richard J.; Strom, Tim M.; Meitinger, Thomas; Rubio-Gozalbo, M. Estela; Chrusciel, Elzbieta; Distelmaier, Felix; Golzio, Christelle; Jansen, Joop H.; van Karnebeek, Clara; Lillquist, Yolanda; Luecke, Thomas; Ounap, Katrin; Zordania, Riina; Yaplito-Lee, Joy; van Bokhoven, Hans; Spelbrink, Johannes N.; Vaz, Frederic M.; Pras-Raves, Mia; Ploski, Rafal; Pronicka, Ewa; Klein, Christine; Willemsen, Michel A. A. P.; de Brouwer, Arjan P. M.; Prokisch, Holger; Katsanis, Nicholas; Wevers, Ron A. Share Save
The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation Pronicka, Ewa; Piekutowska-Abramczuk, Dorota; Szymanska-Debinska, Tamara; Bielecka, Liliana; Kowalski, Pawel; Luczak, Sylwia; Karkucinska-Wieckowska, Agnieszka; Migdal, Marek; Kubalska, Jolanta; Zimowski, Janusz; Jamroz, Ewa; Wierzba, Jolanta; Sykut-Cegielska, Jolanta; Pronicki, Maciej; Zaremba, Jacek; Krajewska-Walasek, Malgorzata Share Save
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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness Wortmann, Saskia B.; Vaz, Frederic M.; Gardeitchik, Thatjana; Vissers, Lisenka E. L. M.; Renkema, G. Herma; Schuurs-Hoeijmakers, Janneke H. M.; Kulik, Wim; Lammens, Martin; Christin, Christin; Kluijtmans, Leo A. J.; Rodenburg, Richard J.; Nijtmans, Leo G. J.; Gruenewald, Anne; Klein, Christine; Gerhold, Joachim M.; Kozicz, Tamas; van Hasselt, Peter M.; Harakalova, Magdalena; Kloosterman, Wigard; Baric, Ivo; Pronicka, Ewa; Ucar, Sema Kalkan; Naess, Karin; Singhal, Kapil K.; Krumina, Zita; Gilissen, Christian; van Bokhoven, Hans; Veltman, Joris A.; Smeitink, Jan A. M.; Lefeber, Dirk J.; Spelbrink, Johannes N.; Wevers, Ron A.; Morava, Eva; de Brouwer, Arjan P. M. Share Save
The new molecular p.M177T identified in two unrelated patients with clinical features of SCO2-dependent cytochrome c oxidase deficiency Luczak, Sylwia; Piekutowska-Abramczuk, Dorota; Kowalski, Pawel; Ciara, Elzbieta; Jurkiewicz, Dorota; Borucka-Mankiewicz, Maria; Tanska, Anna; Pelc, Magdalena; Trubicka, Joanna; Krajewska-Walasek, Malgorzata; Pronicka, Ewa Share Save
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