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EBioMedicine, 2020-06, Vol.56, p.102784-102784, Article 102784
2020
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Brain (London, England : 1878), 2020-02, Vol.143 (2), p.e8-e8
2020
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Annals of neurology, 2022-04, Vol.91 (4), p.466-482
2022
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Human mutation, 2021-03, Vol.42 (3), p.310-319
2021
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EBioMedicine, 2020-04, Vol.54, p.102730-102730, Article 102730
2020
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Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD Deficiency
2020
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The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi‐omic pipelines
2021
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Annals of neurology, 2021-03, Vol.89 (3), p.629-631
2021
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Journal of inherited metabolic disease, 2020-01, Vol.43 (1), p.25-35
2020
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EBioMedicine, 2020-11, Vol.61, p.103072-103072, Article 103072
2020
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The Journal of clinical investigation, 2021-03, Vol.131 (6), p.1-12
- Stenton, Sarah L
- Sheremet, Natalia L
- Catarino, Claudia B
- Andreeva, Natalia A
- Assouline, Zahra
- Barboni, Piero
- Barel, Ortal
- Berutti, Riccardo
- Bychkov, Igor
- Caporali, Leonardo
- Capristo, Mariantonietta
- Carbonelli, Michele
- Cascavilla, Maria L
- Charbel Issa, Peter
- Freisinger, Peter
- Gerber, Sylvie
- Ghezzi, Daniele
- Graf, Elisabeth
- Heidler, Juliana
- Hempel, Maja
- Heon, Elise
- Itkis, Yulya S
- Javasky, Elisheva
- Kaplan, Josseline
- Kopajtich, Robert
- Kornblum, Cornelia
- Kovacs-Nagy, Reka
- Krylova, Tatiana D
- Kunz, Wolfram S
- La Morgia, Chiara
- Lamperti, Costanza
- Ludwig, Christina
- Malacarne, Pedro F
- Maresca, Alessandra
- Mayr, Johannes A
- Meisterknecht, Jana
- Nevinitsyna, Tatiana A
- Palombo, Flavia
- Pode-Shakked, Ben
- Shmelkova, Maria S
- Strom, Tim M
- Tagliavini, Francesca
- Tzadok, Michal
- van der Ven, Amelie T
- Vignal-Clermont, Catherine
- Wagner, Matias
- Zakharova, Ekaterina Y
- Zhorzholadze, Nino V
- Rozet, Jean-Michel
- Carelli, Valerio
- Tsygankova, Polina G
- Klopstock, Thomas
- Wittig, Ilka
- Prokisch, Holger
2021
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Brain (London, England : 1878), 2022-12, Vol.145 (12), p.e125-e127
2022
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Brain (London, England : 1878), 2022-06, Vol.145 (5), p.1624-1631
- Stenton, Sarah L
- Tesarova, Marketa
- Sheremet, Natalia L
- Catarino, Claudia B
- Carelli, Valerio
- Ciara, Elżbieta
- Curry, Kathryn
- Engvall, Martin
- Fleming, Leah R
- Freisinger, Peter
- Iwanicka-Pronicka, Katarzyna
- Jurkiewicz, Elżbieta
- Klopstock, Thomas
- Koenig, Mary K
- Kolářová, Hana
- Kousal, Bohdan
- Krylova, Tatiana
- La Morgia, Chiara
- Nosková, Lenka
- Piekutowska-Abramczuk, Dorota
- Russo, Sam N
- Stránecký, Viktor
- Tóthová, Iveta
- Träisk, Frank
- Prokisch, Holger
2022
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Genome medicine, 2022-04, Vol.14 (1), p.38-38, Article 38
- Yépez, Vicente A
- Gusic, Mirjana
- Kopajtich, Robert
- Mertes, Christian
- Smith, Nicholas H
- Alston, Charlotte L
- Ban, Rui
- Beblo, Skadi
- Berutti, Riccardo
- Blessing, Holger
- Ciara, Elżbieta
- Distelmaier, Felix
- Freisinger, Peter
- Häberle, Johannes
- Hayflick, Susan J
- Hempel, Maja
- Itkis, Yulia S
- Kishita, Yoshihito
- Klopstock, Thomas
- Krylova, Tatiana D
- Lamperti, Costanza
- Lenz, Dominic
- Makowski, Christine
- Mosegaard, Signe
- Müller, Michaela F
- Muñoz-Pujol, Gerard
- Nadel, Agnieszka
- Ohtake, Akira
- Okazaki, Yasushi
- Procopio, Elena
- Schwarzmayr, Thomas
- Smet, Joél
- Staufner, Christian
- Stenton, Sarah L
- Strom, Tim M
- Terrile, Caterina
- Tort, Frederic
- Van Coster, Rudy
- Vanlander, Arnaud
- Wagner, Matias
- Xu, Manting
- Fang, Fang
- Ghezzi, Daniele
- Mayr, Johannes A
- Piekutowska-Abramczuk, Dorota
- Ribes, Antonia
- Rötig, Agnès
- Taylor, Robert W
- Wortmann, Saskia B
- Murayama, Kei
- Meitinger, Thomas
- Gagneur, Julien
- Prokisch, Holger
2022
Link zum Volltext
Brain (London, England : 1878), 2019-12, Vol.142 (12), p.3876-3891
- Esposito, Alessandro
- Falace, Antonio
- Wagner, Matias
- Gal, Moran
- Mei, Davide
- Conti, Valerio
- Pisano, Tiziana
- Aprile, Davide
- Cerullo, Maria Sabina
- De Fusco, Antonio
- Giovedì, Silvia
- Seibt, Annette
- Magen, Daniella
- Polster, Tilman
- Eran, Ayelet
- Stenton, Sarah L
- Fiorillo, Chiara
- Ravid, Sarit
- Mayatepek, Ertan
- Hafner, Hava
- Wortmann, Saskia
- Levanon, Erez Y
- Marini, Carla
- Mandel, Hanna
- Benfenati, Fabio
- Distelmaier, Felix
- Fassio, Anna
- Guerrini, Renzo
2019
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Kidney international, 2022-09, Vol.102 (3), p.604-612
- Drovandi, Stefania
- Lipska-Ziętkiewicz, Beata S.
- Ozaltin, Fatih
- Emma, Francesco
- Gulhan, Bora
- Boyer, Olivia
- Trautmann, Agnes
- Xu, Hong
- Shen, Qian
- Rao, Jia
- Riedhammer, Korbinian M.
- Heemann, Uwe
- Hoefele, Julia
- Stenton, Sarah L.
- Tsygin, Alexey N.
- Ng, Kar-Hui
- Fomina, Svitlana
- Benetti, Elisa
- Aurelle, Manon
- Prikhodina, Larisa
- Schreuder, Michiel F.
- Tabatabaeifar, Mansoureh
- Jankowski, Maciej
- Baiko, Sergey
- Mao, Jianhua
- Feng, Chunyue
- Liu, Cuihua
- Sun, Shuzhen
- Deng, Fang
- Wang, Xiaowen
- Clavé, Stéphanie
- Stańczyk, Małgorzata
- Bałasz-Chmielewska, Irena
- Fila, Marc
- Durkan, Anne M.
- Levart, Tanja Kersnik
- Dursun, Ismail
- Esfandiar, Nasrin
- Haas, Dorothea
- Bjerre, Anna
- Anarat, Ali
- Benz, Marcus R.
- Talebi, Saeed
- Hooman, Nakysa
- Ariceta, Gema
- Serna Higuita, Lina Maria
- Schaefer, Franz
- Gheissari, Alaleh
- Nigmatullina, Nazym
- Tkaczyk, Marcin
- Borzecka, Halina
- Bogdanovic, Radovan
- Mir, Sevgi
- Klopstock, Thomas
- Prokisch, Holger
- Kornblum, Cornelia
- Liu, Cui-Hua
- Sun, Shu-Zhen
- Dong, Yang
- Wang, Xiao-Wen
- Luan, Jiang-Wei
2022
Link zum Volltext
Kidney international, 2022-09, Vol.102 (3), p.592-603
- Drovandi, Stefania
- Lipska-Ziętkiewicz, Beata S.
- Ozaltin, Fatih
- Emma, Francesco
- Gulhan, Bora
- Boyer, Olivia
- Trautmann, Agnes
- Ziętkiewicz, Szymon
- Xu, Hong
- Shen, Qian
- Rao, Jia
- Riedhammer, Korbinian M.
- Heemann, Uwe
- Hoefele, Julia
- Stenton, Sarah L.
- Tsygin, Alexey N.
- Ng, Kar-Hui
- Fomina, Svitlana
- Benetti, Elisa
- Aurelle, Manon
- Prikhodina, Larisa
- Schijvens, Anne M.
- Tabatabaeifar, Mansoureh
- Jankowski, Maciej
- Baiko, Sergey
- Mao, Jianhua
- Feng, Chunyue
- Deng, Fang
- Rousset-Rouviere, Caroline
- Stańczyk, Małgorzata
- Bałasz-Chmielewska, Irena
- Fila, Marc
- Durkan, Anne M.
- Levart, Tanja Kersnik
- Dursun, Ismail
- Esfandiar, Nasrin
- Haas, Dorothea
- Bjerre, Anna
- Anarat, Ali
- Benz, Marcus R.
- Talebi, Saeed
- Hooman, Nakysa
- Ariceta, Gema
- Serna Higuita, Lina Maria
- Schaefer, Franz
- Gheissari, Alaleh
- Nigmatullina, Nazym
- Tkaczyk, Marcin
- Borzecka, Halina
- Bogdanovic, Radovan
- Mir, Sevgi
- Klopstock, Thomas
- Prokisch, Holger
- Kornblum, Cornelia
- Liu, Cui-Hua
- Sun, Shu-Zhen
- Dong, Yang
- Wang, Xiao-Wen
- Luan, Jiang-Wei
2022
Link zum Volltext
Nature genetics, 2024-03, Vol.56 (3), p.395-4
- Töpf, Ana
- Cox, Dan
- Zaharieva, Irina T
- Di Leo, Valeria
- Sarparanta, Jaakko
- Jonson, Per Harald
- Sealy, Ian M
- Smolnikov, Andrei
- White, Richard J
- Vihola, Anna
- Savarese, Marco
- Merteroglu, Munise
- Wali, Neha
- Laricchia, Kristen M
- Venturini, Cristina
- Vroling, Bas
- Stenton, Sarah L
- Cummings, Beryl B
- Harris, Elizabeth
- Marini-Bettolo, Chiara
- Diaz-Manera, Jordi
- Henderson, Matt
- Barresi, Rita
- Duff, Jennifer
- England, Eleina M
- Patrick, Jane
- Al-Husayni, Sundos
- Biancalana, Valerie
- Beggs, Alan H
- Bodi, Istvan
- Bommireddipalli, Shobhana
- Bönnemann, Carsten G
- Cairns, Anita
- Chiew, Mei-Ting
- Claeys, Kristl G
- Cooper, Sandra T
- Davis, Mark R
- Donkervoort, Sandra
- Erasmus, Corrie E
- Fassad, Mahmoud R
- Genetti, Casie A
- Grosmann, Carla
- Jungbluth, Heinz
- Kamsteeg, Erik-Jan
- Lornage, Xavière
- Löscher, Wolfgang N
- Malfatti, Edoardo
- Manzur, Adnan
- Martí, Pilar
- Mongini, Tiziana E
- Muelas, Nuria
- Nishikawa, Atsuko
- O'Donnell-Luria, Anne
- Ogonuki, Narumi
- O'Grady, Gina L
- O'Heir, Emily
- Paquay, Stéphanie
- Phadke, Rahul
- Pletcher, Beth A
- Romero, Norma B
- Schouten, Meyke
- Shah, Snehal
- Smuts, Izelle
- Sznajer, Yves
- Tasca, Giorgio
- Taylor, Robert W
- Tuite, Allysa
- Van den Bergh, Peter
- VanNoy, Grace
- Voermans, Nicol C
- Wanschitz, Julia V
- Wraige, Elizabeth
- Yoshimura, Kimihiko
- Oates, Emily C
- Nakagawa, Osamu
- Nishino, Ichizo
- Laporte, Jocelyn
- Vilchez, Juan J
- MacArthur, Daniel G
- Sarkozy, Anna
- Cordell, Heather J
- Udd, Bjarne
- Busch-Nentwich, Elisabeth M
- Muntoni, Francesco
- Straub, Volker
2024
Link zum Volltext
Genetics in medicine, 2024-05, Vol.26 (5), p.101076-101076, Article 101076
- Dias, Kerith-Rae
- Shrestha, Rupendra
- Schofield, Deborah
- Evans, Carey-Anne
- O’Heir, Emily
- Zhu, Ying
- Zhang, Futao
- Standen, Krystle
- Weisburd, Ben
- Stenton, Sarah L.
- Sanchis-Juan, Alba
- Brand, Harrison
- Talkowski, Michael E.
- Ma, Alan
- Ghedia, Sondy
- Wilson, Meredith
- Sandaradura, Sarah A.
- Smith, Janine
- Kamien, Benjamin
- Turner, Anne
- Bakshi, Madhura
- Adès, Lesley C.
- Mowat, David
- Regan, Matthew
- McGillivray, George
- Savarirayan, Ravi
- White, Susan M.
- Tan, Tiong Yang
- Stark, Zornitza
- Brown, Natasha J.
- Pérez-Jurado, Luis A.
- Krzesinski, Emma
- Hunter, Matthew F.
- Akesson, Lauren
- Fennell, Andrew Paul
- Yeung, Alison
- Boughtwood, Tiffany
- Ewans, Lisa J.
- Kerkhof, Jennifer
- Lucas, Christopher
- Carey, Louise
- French, Hugh
- Rapadas, Melissa
- Stevanovski, Igor
- Deveson, Ira W.
- Cliffe, Corrina
- Elakis, George
- Kirk, Edwin P.
- Dudding-Byth, Tracy
- Fletcher, Janice
- Walsh, Rebecca
- Corbett, Mark A.
- Kroes, Thessa
- Gecz, Jozef
- Meldrum, Cliff
- Cliffe, Simon
- Wall, Meg
- Lunke, Sebastian
- North, Kathryn
- Amor, David J.
- Field, Michael
- Sadikovic, Bekim
- Buckley, Michael F.
- O’Donnell-Luria, Anne
- Roscioli, Tony
2024
Link zum Volltext
Genetics in Medicine Open, 2023, Vol.1 (1), p.100821, Article 100821
2023
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Advances in Molecular Pathology, 2018-11, Vol.1 (1), p.27-36
2018
Link zum Volltext
Nature genetics, 2024-01, Vol.56 (1), p.152-161
- Guo, Michael H
- Francioli, Laurent C
- Stenton, Sarah L
- Goodrich, Julia K
- Watts, Nicholas A
- Singer-Berk, Moriel
- Groopman, Emily
- Darnowsky, Philip W
- Solomonson, Matthew
- Baxter, Samantha
- Tiao, Grace
- Neale, Benjamin M
- Hirschhorn, Joel N
- Rehm, Heidi L
- Daly, Mark J
- O'Donnell-Luria, Anne
- Karczewski, Konrad J
- MacArthur, Daniel G
- Samocha, Kaitlin E
2024
Link zum Volltext
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
- Blickhäuser, Beryll
- Stenton, Sarah L
- Neuhofer, Christiane M
- Floride, Elisa
- Nesbitt, Victoria
- Fratter, Carl
- Koch, Johannes
- Kauffmann, Birgit
- Catarino, Claudia
- Schlieben, Lea Dewi
- Kopajtich, Robert
- Carelli, Valerio
- Sadun, Alfredo A
- McFarland, Robert
- Fang, Fang
- La Morgia, Chiara
- Paquay, Stéphanie
- Nassogne, Marie Cécile
- Ghezzi, Daniele
- Lamperti, Costanza
- Wortmann, Saskia
- Poulton, Jo
- Klopstock, Thomas
- Prokisch, Holger
2024
Link zum Volltext
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, p.147-162
Link zum Volltext
Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD Deficiency
2020
Link zum Volltext
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