Lersch, Robert;Jannadi, Rawan;Grosse, Leonie;Wagner, Matias;Schneider, Marius Frederik;von Stülpnagel, Celina;Heinen, Florian;Potschka, Heidrun;Borggraefe, Ingo
Targeted Molecular Strategies for Genetic Neurodevelopmental Disorders: Emerging Lessons from Dravet Syndrome.
Neuroscientist
2023
29
6
732-750

Muñoz-Pujol, Gerard;Ortigoza-Escobar, Juan D;Paredes-Fuentes, Abraham J;Jou, Cristina;Ugarteburu, Olatz;Gort, Laura;Yubero, Delia;García-Cazorla, Angels;O'Callaghan, Mar;Campistol, Jaume;Muchart, Jordi;Yépez, Vicente A;Gusic, Mirjana;Gagneur, Julien;Prokisch, Holger;Artuch, Rafael;Ribes, Antonia;Urreizti, Roser;Tort, Frederic
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
Brain Pathol
2023
33
3

Indelicato, Elisabetta;Boesch, Sylvia;Baumgartner, Manuela;Plecko, Barbara;Winkelmann, Juliane;Zech, Michael
Confirmation of a Causal Role for SHQ1 Variants in Early Infantile-Onset Recessive Dystonia.
Mov Disord
2023
38
2
355-357

Oeckl, Patrick;Anderl-Straub, Sarah;Danek, Adrian;Diehl-Schmid, Janine;Fassbender, Klaus;Fliessbach, Klaus;Halbgebauer, Steffen;Huppertz, Hans-Jürgen;Jahn, Holger;Kassubek, Jan;Kornhuber, Johannes;Landwehrmeyer, Bernhard;Lauer, Martin;Prudlo, Johannes;Schneider, Anja;Schroeter, Matthias L;Steinacker, Petra;Volk, Alexander E;Wagner, Matias;Winkelmann, Juliane;Wiltfang, Jens;Ludolph, Albert C;Otto, Markus
Relationship of serum beta-synuclein with blood biomarkers and brain atrophy.
Alzheimers Dement
2023
19
4
1358-1371

Di Fonzo, Alessio;Zech, Michael
Nuclear Pore Complex Dysfunction in Dystonia Pathogenesis: Nucleoporins in the Spotlight.
Mov Disord
2023
38
1
23-24

Edelson, Jacob L;Schneider, Logan D;Amar, David;Brink-Kjaer, Andreas;Cederberg, Katie L;Kutalik, Zoltán;Hagen, Erika W;Peppard, Paul E;Tempaku, Priscila Farias;Tufik, Sergio;Evans, Daniel S;Stone, Katie;Tranah, Greg;Cade, Brian;Redline, Susan;Haba-Rubio, Jose;Heinzer, Raphael;Marques-Vidal, Pedro;Vollenweider, Peter;Winkelmann, Juliane;Zou, James;Mignot, Emmanuel
The genetic etiology of periodic limb movement in sleep.
Sleep
2023
46
4

Westphal, Dominik S;Federle, David;Steger, Alexander;Vodermeier, Tanja;Scheiper-Welling, Stefanie;Jenewein, Tina;Beckmann, Britt-Maria;Kauferstein, Silke;Martens, Eimo;Hahn, Franziska
Telemedical monitoring in patients with inborn cardiac disease - experience of a tertiary care centre.
Mamm Genome
2023
34
2
323-330

Härtl, Johanna;Hartberger, Julia;Wunderlich, Silke;Cordts, Isabell;Bafligil, Cemsel;Sturm, Marc;Westphal, Dominik;Haack, Tobias;Hemmer, Bernhard;Ikenberg, Benno David;Deschauer, Marcus
Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants.
J Neurol
2023
270
3
1501-1511

AlAbdi, Lama;Desbois, Muriel;Rusnac, Domniţa Valeria;Sulaiman, Raashda A;Rosenfeld, Jill A;Lalani, Seema;Murdock, David R;Burrage, Lindsay C;Billie Au, Ping Yee;Towner, Shelley;Wilson, William G;Wong, Lawrence;Brunet, Theresa;Strobl-Wildemann, Gertrud;Burton, Jennifer E;Hoganson, George;McWalter, Kirsty;Begtrup, Amber;Zarate, Yuri A;Christensen, Elyse L;Opperman, Karla J;Giles, Andrew C;Helaby, Rana;Kania, Artur;Zheng, Ning;Grill, Brock;Alkuraya, Fowzan S
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
Brain
2023
146
4
1373-1387

Krenn, Martin;Sener, Merve;Rath, Jakob;Zulehner, Gudrun;Keritam, Omar;Wagner, Matias;Laccone, Franco;Iglseder, Stephan;Marte, Sonja;Baumgartner, Manuela;Eisenkölbl, Astrid;Liechtenstein, Christian;Rudnik, Sabine;Quasthoff, Stefan;Grinzinger, Susanne;Spenger, Johannes;Wortmann, Saskia B;Löscher, Wolfgang N;Zimprich, Fritz;Kellersmann, Anna;Rappold, Mika;Bernert, Günther;Freilinger, Michael;Cetin, Hakan
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
J Neurol
2023
270
2
909-916