Danhofer, Pavlína;Zech, Michael;Bálintová, Zdenka;Baláž, Marek;Jech, Robert;Ošlejšková, Hana
Brittle Biballism-Dystonia in a Pediatric Patient with GNAO1 Mutation Managed Using Pallidal Deep Brain Stimulation.
Mov Disord Clin Pract
2021
8
1
153-155

Abel, Maria;Pfister, Robert;Hussein, Iman;Alsalloum, Fahd;Onyinzo, Christina;Kappl, Simon;Zech, Michael;Demmel, Walter;Staudt, Martin;Kudernatsch, Manfred;Berweck, Steffen
Deep Brain Stimulation in KMT2B-Related Dystonia: Case Report and Review of the Literature With Special Emphasis on Dysarthria and Speech.
Front Neurol
2021
12

Zech, Michael;Jech, Robert;Boesch, Sylvia;Škorvánek, Matej;Necpál, Ján;Švantnerová, Jana;Wagner, Matias;Sadr-Nabavi, Ariane;Distelmaier, Felix;Krenn, Martin;Serranová, Tereza;Rektorová, Irena;Havránková, Petra;Mosejová, Alexandra;Příhodová, Iva;Šarláková, Jana;Kulcsarová, Kristína;Ulmanová, Olga;Bechyně, Karel;Ostrozovičová, Miriam;Haň, Vladimír;Ventosa, Joaquim Ribeiro;Brunet, Theresa;Berutti, Riccardo;Shariati, Mohammad;Shoeibi, Ali;Schneider, Susanne A;Kuster, Alice;Baumann, Matthias;Weise, David;Wilbert, Friederike;Janzarik, Wibke G;Eckenweiler, Matthias;Mall, Volker;Haslinger, Bernhard;Berweck, Steffen;Winkelmann, Juliane;Oexle, Konrad
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.
Mov Disord
2021
36
8
1959-1964

Gomez-Alonso, Monica Del C;Kretschmer, Anja;Wilson, Rory;Pfeiffer, Liliane;Karhunen, Ville;Seppälä, Ilkka;Zhang, Weihua;Mittelstraß, Kirstin;Wahl, Simone;Matias-Garcia, Pamela R;Prokisch, Holger;Horn, Sacha;Meitinger, Thomas;Serrano-Garcia, Luis R;Sebert, Sylvain;Raitakari, Olli;Loh, Marie;Rathmann, Wolfgang;Müller-Nurasyid, Martina;Herder, Christian;Roden, Michael;Hurme, Mikko;Jarvelin, Marjo-Riitta;Ala-Korpela, Mika;Kooner, Jaspal S;Peters, Annette;Lehtimäki, Terho;Chambers, John C;Gieger, Christian;Kettunen, Johannes;Waldenberger, Melanie
DNA methylation and lipid metabolism: an EWAS of 226 metabolic measures.
Clin Epigenetics
2021
13
1

Ramanujam, Deepak;Schön, Anna Patricia;Beck, Christina;Vaccarello, Paula;Felician, Giulia;Dueck, Anne;Esfandyari, Dena;Meister, Gunter;Meitinger, Thomas;Schulz, Christian;Engelhardt, Stefan
MicroRNA-21-Dependent Macrophage-to-Fibroblast Signaling Determines the Cardiac Response to Pressure Overload.
Circulation
2021
143
15
1513-1525

Yap, Zheng Yie;Park, Yo Han;Wortmann, Saskia B;Gunning, Adam C;Ezer, Shlomit;Lee, Sukyeong;Duraine, Lita;Wilichowski, Ekkehard;Wilson, Kate;Mayr, Johannes A;Wagner, Matias;Li, Hong;Kini, Usha;Black, Emily Davis;Monaghan, Kristin G;Lupski, James R;Ellard, Sian;Westphal, Dominik S;Harel, Tamar;Yoon, Wan Hee
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Genome Med
2021
13
1

Monfrini, Edoardo;Zech, Michael;Steel, Dora;Kurian, Manju A;Winkelmann, Juliane;Di Fonzo, Alessio
HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia.
Brain
2021
144
9
2610-2615

Dzinovic, Ivana;Škorvánek, Matej;Pavelekova, Petra;Zhao, Chen;Keren, Boris;Whalen, Sandra;Bakhtiari, Somayeh;Chih Jin, Sheng;Kruer, Michael C;Jech, Robert;Winkelmann, Juliane;Zech, Michael
Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome.
Ann Clin Transl Neurol
2021
8
4
951-955

Eberherr, Andreas C;Maaske, Andre;Wolf, Christine;Giesert, Florian;Berutti, Riccardo;Rusha, Ejona;Pertek, Anna;Kastlmeier, Miriam T;Voss, Carola;Plummer, Michelle;Sayed, Amina;Graf, Elisabeth;Effner, Renate;Volz, Thomas;Drukker, Micha;Strom, Tim M;Meitinger, Thomas;Stoeger, Tobias;Buyx, Alena M;Hagl, Beate;Renner, Ellen D
Rescue of STAT3 Function in Hyper-IgE Syndrome Using Adenine Base Editing.
CRISPR J
2021
4
2
178-190

Torraco, Alessandra;Nasca, Alessia;Verrigni, Daniela;Pennisi, Alessandra;Zaki, Maha S;Olivieri, Giorgia;Assouline, Zahra;Martinelli, Diego;Maroofian, Reza;Rizza, Teresa;Di Nottia, Michela;Invernizzi, Federica;Lamantea, Eleonora;Longo, Daniela;Houlden, Henry;Prokisch, Holger;Rötig, Agnès;Dionisi-Vici, Carlo;Bertini, Enrico;Ghezzi, Daniele;Carrozzo, Rosalba;Diodato, Daria
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
Hum Mutat
2021
42
6
699-710