Examinant per Autoria "Töpf, Ana"
Resultats per pàgina
Opcions d'ordenació
Ítem Accés Obert A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents(Wiley, 2022) Gangfuß, Andrea; Lochmüller, Hanns; Töpf, Ana; O'Hehir, Emily; Horvath, Rita; Kölbel, Heike; Schweiger, Bernd; Schara-Schmidt, Ulrike; Roos, Andreas
Ítem Accés Obert A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features(Elsevier, 2020) Lim, Albert Z.; McMacken, Grace M.; Rastelli, Francesca; Oláhová, Monika; Baty, Karen; Hopton, Sila; Falkous, Gavin; Töpf, Ana; Lochmüller, Hanns; Marini-Bettolo, Chiara; McFarland, Robert; Taylor, Robert W.
Ítem Accés Obert COL4A1-related autosomal recessive encephalopathy in 2 Turkish children(Lippincott Williams & Wilkins, 2020) Yaramis, Ahmet; Lochmüller, Hanns; Töpf, Ana; Sonmezler, Ece; Yilmaz, Elmasnur; Hiz, Semra; Yis, Uluc; Gungor, Serdal; Polat, Ayse Ipek; Edem, Pinar; Beltran, Sergi; Laurie, Steven, 1973-; Yaramis, Aysenur; Horvath, Rita; Oktay, Yavuz
Ítem Accés Obert Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)(Nature Research, 2021) Töpf, Ana; Pyle, Angela; Griffin, Helen; Matalonga, Leslie; Schon, Katherine; Solve-RD SNV-indel working group; Solve-RD DITF-euroNMD; Sickmann, Albert; Schara-Schmidt, Ulrike; Hentschel, Andreas; Chinnery, Patrick F.; Kölbel, Heike; Roos, Andreas
Ítem Accés Obert Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement(Wiley, 2022) Gangfuß, Andrea; Czech, Artur; Hentschel, Andreas; Münchberg, Ute; Horvath, Rita; Töpf, Ana; O'Heir, Emily; Lochmüller, Hanns; Stehling, Florian; Kiewert, Cordula; Sickmann, Albert; Kuechler, Alma; Kaiser, Frank J.; Kölbel, Heike; Christiansen, Jon; Schara-Schmidt, Ulrike; Roos, Andreas
Ítem Accés Obert MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses(Rockefeller University Press, 2019) Oury, Julien; Liu, Yun; Töpf, Ana; Todorovic, Slobodanka; Hoedt, Esthelle; Preethish-Kumar, Veeramani; Neubert, Thomas A.; Lin, Weichun; Lochmüller, Hanns; Burden, Steven J.
Ítem Accés Obert Molecular pathophysiology of human MICU1 deficiency(Wiley, 2021) Kohlschmidt, Nicolai; Elbracht, Miriam; Czech, Artur; Häusler, Martin; Phan, Vietxuan; Töpf, Ana; Huang, Kai-Ting; Bartok, Adam; Eggermann, Katja; Zippel, Stephanie; Eggermann, Thomas; Freier, Erik; Groß, Claudia; Lochmüller, Hanns; Horvath, Rita; Hajnóczky, György; Weis, Joachim; Roos, Andreas
Ítem Accés Obert Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects(BioMed Central, 2022) Arlt, Annabelle; Kohlschmidt, Nicolai; Hentschel, Andreas; Bartels, Enrika; Groß, Claudia; Töpf, Ana; Edem, Pinar; Szabo, Nora; Sickmann, Albert; Meyer, Nancy; Schara-Schmidt, Ulrike; Lau, Jarred; Lochmüller, Hanns; Horvath, Rita; Oktay, Yavuz; Roos, Andreas; Hiz, Semra