Indelicato, Elisabetta;Boesch, Sylvia;Havrankova, Petra;Příhodová, Iva;Winkelmann, Juliane;Jech, Robert;Zech, Michael
SOXopathies and dystonia: Consolidation of a recurrent association.
Parkinsonism Relat Disord
2024
119

Kaiyrzhanov, Rauan;Rad, Aboulfazl;Lin, Sheng-Jia;Bertoli-Avella, Aida;Kallemeijn, Wouter W;Godwin, Annie;Zaki, Maha S;Huang, Kevin;Lau, Tracy;Petree, Cassidy;Efthymiou, Stephanie;Karimiani, Ehsan Ghayoor;Hempel, Maja;Normand, Elizabeth A;Rudnik-Schöneborn, Sabine;Schatz, Ulrich A;Baggelaar, Marc P;Ilyas, Muhammad;Sultan, Tipu;Alvi, Javeria Raza;Ganieva, Manizha;Fowler, Ben;Aanicai, Ruxandra;Tayfun, Gulsen Akay;Al Saman, Abdulaziz;Alswaid, Abdulrahman;Amiri, Nafise;Asilova, Nilufar;Shotelersuk, Vorasuk;Yeetong, Patra;Azam, Matloob;Babaei, Meisam;Monajemi, Gholamreza Bahrami;Mohammadi, Pouria;Samie, Saeed;Banu, Selina Husna;Pinto Basto, Jorge;Kortüm, Fanny;Bauer, Mislen;Bauer, Peter;Beetz, Christian;Garshasbi, Masoud;Issa, Awatif Hameed;Eyaid, Wafaa;Ahmed, Hind;Hashemi, Narges;Hassanpour, Kazem;Herman, Isabella;Ibrohimov, Sherozjon;Abdul-Majeed, Ban A;Imdad, Maria;Isrofilov, Maksudjon;Kaiyal, Qassem;Khan, Suliman;Kirmse, Brian;Koster, Janet;Lourenço, Charles Marques;Mitani, Tadahiro;Moldovan, Oana;Murphy, David;Najafi, Maryam;Pehlivan, Davut;Rocha, Maria Eugenia;Salpietro, Vincenzo;Schmidts, Miriam;Shalata, Adel;Mahroum, Mohammad;Talbeya, Jawabreh Kassem;Taylor, Robert W;Vazquez, Dayana;Vetro, Annalisa;Waterham, Hans R;Zaman, Mashaya;Schrader, Tina A;Chung, Wendy K;Guerrini, Renzo;Lupski, James R;Gleeson, Joseph;Suri, Mohnish;Jamshidi, Yalda;Bhatia, Kailash P;Vona, Barbara;Schrader, Michael;Severino, Mariasavina;Guille, Matthew;Tate, Edward W;Varshney, Gaurav K;Houlden, Henry;Maroofian, Reza
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Brain
2024
147
4
1436-1456

Indelicato, Elisabetta;Boesch, Sylvia;Mencacci, Niccolo' E;Ghezzi, Daniele;Prokisch, Holger;Winkelmann, Juliane;Zech, Michael
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine.
Mov Disord
2024
39
1
29-35

Lenz, Dominic;Schlieben, Lea D;Shimura, Masaru;Bianzano, Alyssa;Smirnov, Dmitrii;Kopajtich, Robert;Berutti, Riccardo;Adam, Rüdiger;Aldrian, Denise;Baric, Ivo;Baumann, Ulrich;Bozbulut, Neslihan Eksi;Brugger, Melanie;Brunet, Theresa;Bufler, Philip;Burnytė, Birutė;Calvo, Pier Luigi;Crushell, Ellen;Dalgıç, Buket;Das, Anibh M;Dezsőfi, 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;Kırsaçlıoğlu, Ceyda Tuna;Knoppke, Birgit;Kohl, Martina;Kölbel, Heike;Kölker, Stefan;Konstantopoulou, Vassiliki;Krylova, Tatiana;Kuloğlu, Zarife;Kuster, Alice;Laass, Martin W;Lainka, Elke;Lurz, Eberhard;Mandel, Hanna;Mayerhanser, Katharina;Mayr, Johannes A;McKiernan, Patrick;McLean, Patricia;McLin, Valerie;Mention, Karine;Müller, Hanna;Pasquier, Laurent;Pavlov, Martin;Pechatnikova, Natalia;Peters, Bianca;Petković Ramadža, Danijela;Piekutowska-Abramczuk, Dorota;Pilic, Denisa;Rajwal, Sanjay;Rock, Nathalie;Roetig, Agnès;Santer, René;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 Friedrich;Meitinger, Thomas;Murayama, Kei;Staufner, Christian;Prokisch, Holger
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Hepatology
2024
79
5
1075-1087

Krenn, Martin;Wagner, Matias;Zulehner, Gudrun;Weng, Rosa;Jäger, Fiona;Keritam, Omar;Sener, Merve;Brücke, Christof;Milenkovic, Ivan;Langer, Agnes;Buchinger, Dominic;Habersam, Richard;Mayerhanser, Katharina;Brugger, Melanie;Brunet, Theresa;Jacob, Maureen;Graf, Elisabeth;Berutti, Riccardo;Cetin, Hakan;Hoefele, Julia;Winkelmann, Juliane;Zimprich, Fritz;Rath, Jakob
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
J Neurol
2024
271
4
1937-1946

Brunet, Theresa;Zott, Benedikt;Lieftüchter, Victoria;Lenz, Dominic;Schmidt, Axel;Peters, Philipp;Kopajtich, Robert;Zaddach, Malin;Zimmermann, Hanna;Hüning, Irina;Ballhausen, Diana;Staufner, Christian;Bianzano, Alyssa;Hughes, Joanne;Taylor, Robert W;McFarland, Robert;Devlin, Anita;Mihaljević, Mihaela;Barišić, Nina;Rohlfs, Meino;Wilfling, Sibylle;Sondheimer, Neal;Hewson, Stacy;Marinakis, Nikolaos M;Kosma, Konstantina;Traeger-Synodinos, Joanne;Elbracht, Miriam;Begemann, Matthias;Trepels-Kottek, Sonja;Hasan, Dimah;Scala, Marcello;Capra, Valeria;Zara, Federico;van der Ven, Amelie T;Driemeyer, Joenna;Apitz, Christian;Krämer, Johannes;Strong, Alanna;Hakonarson, Hakon;Watson, Deborah;Mayr, Johannes A;Prokisch, Holger;Meitinger, Thomas;Borggraefe, Ingo;Spiegler, Juliane;Baric, Ivo;Paolini, Marco;Gerstl, Lucia;Wagner, Matias
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Genet Med
2024
26
2

Gippert, Sebastian;Wagner, Matias;Brunet, Theresa;Berruti, Riccardo;Brugger, Melanie;Schwaibold, Eva M C;Haack, Tobias B;Hoffmann, Georg F;Bettendorf, Markus;Choukair, Daniela
Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project).
Endocrine
2024
85
1
444-453

Martens, Laura D;Fischer, David S;Yépez, Vicente A;Theis, Fabian J;Gagneur, Julien
Modeling fragment counts improves single-cell ATAC-seq analysis.
Nat Methods
2024
21
1
28-31

Monfrini, Edoardo;Avanzino, Laura;Palermo, Giovanni;Bonato, Giulia;Brescia, Gloria;Ceravolo, Roberto;Cantarella, Giovanna;Mandich, Paola;Prokisch, Holger;Storm Van's Gravesande, Karin;Straccia, Giulia;Elia, Antonio;Reale, Chiara;Panteghini, Celeste;Zorzi, Giovanna;Eleopra, Roberto;Erro, Roberto;Carecchio, Miryam;Garavaglia, Barbara;Zech, Michael;Romito, Luigi;Di Fonzo, Alessio
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.
Mov Disord Clin Pract
2024
11
1
87-93

Brislinger, Lisa-Marie Mona Elén
Phänotyp-Analyse einer Kohorte mit krankheitsverursachenden Varianten in Ziliopathie-Genen
2024
Dissertation
88 p.