未登录Pleiotropic effects of MORC2 derive from its epigenetic signatureMORC2的多种表型效应源于其表观遗传特征
Peymani, Fatemeh; Ebihara, Tomohiro; Smirnov, Dmitrii; Kopajtich, Robert; Ando, Masahiro; Bertini, Enrico; Carrozzo, Rosalba; Diodato, Daria; Distelmaier, Felix; Fang, Fang; Ghezzi, Daniele; Hempel, Maja; Iwanicka-Pronicka, Katarzyna; Klopstock, Thomas; Stenton, Sarah L.; Lamperti, Costanza; Liu, Zhimei; Murtazina, Aysylu; Okamoto, Yuji; Okazaki, Yasushi; Piekutowska-Abramczuk, Dorota; Rotig, Agnes; Ryzhkova, Oxana; Schlein, Christian; Shagina, Olga; Takashima, Hiroshi; Tsygankova, Polina; Zech, Michael; Meitinger, Thomas; Shimura, Masaru; Murayama, Kei; Prokisch, Holger .png)
分享.png)
收藏分享 收藏 分享 收藏 Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial DiseaseWesol-Kucharska, Dorota; Greczan, Milena; Kaczor, Magdalena; Emczynska-Seliga, Ewa Ehmke Vel; Hajdacka, Malgorzata; Czekuc-Kryskiewicz, Edyta; Piekutowska-Abramczuk, Dorota; Halat-Wolska, Paulina; Ciara, Elzbieta; Jaworski, Maciej; Jezela-Stanek, Aleksandra; Rokicki, Dariusz 分享 收藏 Genetic landscape of pediatric acute liver failure of indeterminate originLenz, Dominic; Schlieben, Lea D.; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Ruediger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E.; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Birute, Burnyte; Calvo, Pier L.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dezsofi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F.; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaclioglu, Ceyda T.; Knoppke, Birgit; Kohl, Martina; Koelbel, Heike; Koelker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloglu, Zarife; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A.; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Mueller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petkovic Ramadza, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnes; Santer, Rene; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W.; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B.; Zakharova, Ekaterina; Hoffmann, Georg F.; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger 分享 收藏 Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants (vol 25, 100314, 2023)Vogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Mueller, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska-Abramczuk, Dorota; Rotig, Agnes; Santer, Rene; Scaglia, Fernando; Schiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler-Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian-She; Weghuber, Daniel; Wortmannd, Saskia 分享 收藏 Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsVogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroeter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Mueler, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska-Abramczuk, Dorota; Roetig, Agnes; Santer, Rene; Scaglia, Fernando; Sehiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler-Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian-She; Weghuber, Daniel; Wortmann, Saskia 分享 收藏 分享 收藏 DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndromeDNAJC30缺陷: 隐性Leber遗传性视神经病变和Leigh综合征的常见原因Stenton, Sarah L.; Tesarova, Marketa; Sheremet, Natalia L.; Catarino, Claudia; Carelli, Valerio; Ciara, Elzbieta; Curry, Kathryn; Engvall, Martin; Fleming, Leah R.; Freisinger, Peter; Iwanicka-Pronicka, Katarzyna; Jurkiewicz, Elzbieta; Klopstock, Thomas; Koenig, Mary K.; Kolarova, Hana; Kousal, Bohdan; Krylova, Tatiana; La Morgia, Chiara; Noskova, Lenka; Piekutowska-Abramczuk, Dorota; Russo, Sam N.; Stranecky, Viktor; Tothova, Iveta; Traisk, Frank; Prokisch, Holger 分享 收藏 NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophyLipinski, Patryk; Greczan, Milena; Piekutowska-Abramczuk, Dorota; Jurkiewicz, Elzbieta; Bakula, Agnieszka; Socha, Piotr; Jankowska, Irena; Rokicki, Dariusz; Tylki-Szymanska, Anna 分享 收藏 The Indices of Cardiovascular Magnetic Resonance Derived Atrial Dynamics May Improve the Contemporary Risk Stratification Algorithms in Children with Hypertrophic CardiomyopathyZiolkowska, Lidia; Mazurkiewicz, Lukasz; Petryka, Joanna; Kowalczyk-Domagala, Monika; Boruc, Agnieszka; Bieganowska, Katarzyna; Ciara, Elzbieta; Piekutowska-Abramczuk, Dorota; Spiewak, Mateusz; Misko, Jolanta; Marczak, Magdalena; Brzezinska-Rajszys, Grazyna 分享 收藏 Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance通过对意义不确定的变体进行功能验证，扩大FDXR缺乏症的临床和遗传谱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 分享 收藏 The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohortPiekutowska-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 分享 收藏 Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis (vol 6, pg 515, 2019)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 分享 收藏 Leigh syndrome caused by mutations in MTFMT is associated with a better prognosisHayhurst, 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 分享 收藏 Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal NeuropathyDanhauser, Katharina; Alhaddad, Bader; Makowski, Christine; Piekutowska-Abramczuk, Dorota; Syrbe, Steffen; Gomez-Ospina, Natalia; Manning, Melanie A.; Kostera-Pruszczyk, Anna; Krahn-Peper, Claudia; Berutti, Riccardo; Kovacs-Nagy, Reka; Gusic, Mirjana; Graf, Elisabeth; Laugwitz, Lucia; Roeblitz, Michaela; Wroblewski, Andreas; Hartmann, Hans; Das, Anibh M.; Bueltmann, Eva; Fang, Fang; Xu, Manting; Schatz, Ulrich A.; Karall, Daniela; Zellner, Herta; Haberlandt, Edda; Feichtinger, Rene G.; Mayr, Johannes A.; Meitinger, Thomas; Prokisch, Holger; Strom, Tim M.; Ploski, Rafal; Hoffmann, Georg F.; Pronicki, Maciej; Bonnen, Penelope E.; Morlot, Susanne; Haack, Tobias B. 分享 收藏 NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like EncephalomyopathyPiekutowska-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 Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?患有m.9185T>C MTATP6变体的个体的Leigh综合征。过度换气是开始其发展的一个因素吗？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 分享 收藏 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiencyRokicki, 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. 分享 收藏 The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategiesTrubicka, Joanna; Zemojtel, Tomasz; Hecht, Jochen; Falana, Katarzyna; Piekutowska-Abramczuk, Dorota; Ploski, Rafal; Perek-Polnik, Marta; Drogosiewicz, Monika; Grajkowska, Wieslawa; Ciara, Elzbieta; Moszczynska, Elzbieta; Dembowska-Baginska, Bozenna; Perek, Danuta; Chrzanowska, Krystyna H.; Krajewska-Walasek, Malgorzata; Lastowska, Maria 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
