Examinant per Autoria "Horvath, Rita"
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 MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis(Nature Research, 2021) de Boer, Elke; Ockeloen, Charlotte W.; Matalonga, Leslie; Horvath, Rita; Solve-RD SNV-indel working group; Rodenburg, Richard J.; Coenen, Marieke J.H.; Janssen, Mirian; Henssen, Dylan; Gilissen, Christian; Steyaert, Wouter; Paramonov, Ida; Solve-RD-DITF-ITHACA; Trimouille, Aurélien; Kleefstra, Tjitske; Verloes, Alain; Vissers, Lisenka E.L.M.
Ítem Accés Obert Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease(Cell Press, 2020) Gungor, Serdal; Aranguren-Ibáñez, Álvaro; Laurie, Steven, 1973-; Beltran, Sergi; Vernos, Isabelle, 1959-; Horvath, Rita
Ítem Accés Obert Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion(Springer, 2020) McMacken, Grace M.; Lochmüller, Hanns; Bansagi, Boglarka; Pyle, Angela; Lochmüller, Angela; Chinnery, Patrick F.; Laurie, Steven, 1973-; Beltran, Sergi; Matalonga, Leslie; Horvath, Rita
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 High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases(Oxford University Press, 2022) Kurul, Semra Hiz; Matalonga, Leslie; Paramonov, Ida; Laurie, Steven, 1973-; Beltran, Sergi; Lochmüller, Hanns; Horvath, Rita
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 Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity(Elsevier, 2020) Matalonga, Leslie; Laurie, Steven, 1973-; Papakonstantinou, Anastasios; Piscia, Davide; Mereu, Elisabetta; Bullich, Gemma; Thompson, Rachel; Horvath, Rita; Pérez Jurado, Luis Alberto; Riess, Olaf; Gut, Ivo Glynne; van Ommen, Gert-Jan; Lochmüller, Hanns; Beltran, Sergi; RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors
Ítem Accés Obert Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency(EMBO Press, 2020) Hathazi, Denisa; Lochmüller, Hanns; Horvath, Rita
Ítem Accés Obert Modulation of agrin and RhoA pathways ameliorates movement defects and synapse morphology in MYO9A-depleted zebrafish(MDPI, 2019) O'Connor, Emily; Cairns, George; Spendiff, Sally; Burns, David; Hettwer, Stefan; Mäder, Armin; Müller, Juliane; Horvath, Rita; Slater, Clarke R.; Roos, Andreas; Lochmüller, Hanns
Ítem Accés Obert Modulation of the acetylcholine receptor clustering pathway improves neuromuscular junction structure and muscle strength in a mouse model of congenital myasthenic syndrome(Frontiers Media, 2020) Spendiff, Sally; Howarth, Rachel M.; McMacken, Grace M.; Davey, Tracey; Quinlan, Kaitlyn; O'Connor, Emily; Slater, Clarke R.; Hettwer, Stefan; Mäder, Armin; Roos, Andreas; Horvath, Rita; Lochmüller, Hanns
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 Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation(Wolters Kluwer (LWW), 2018) Bansagi, Boglarka; Phan, Vietxuan; Baker, Mark R.; O'Sullivan, Julia; Jennings, Matthew J.; Whittaker, Roger G.; Müller, Juliane; Duff, Jennifer; Griffin, Helen; Miller, James A.L.; Gorman, Grainne S.; Lochmüller, Hanns; Chinnery, Patrick F.; Roos, Andreas; Swan, Laura E.; Horvath, Rita
Ítem Accés Obert Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons(Oxford University Press, 2018) Boczonadi, Veronika; Meyer, Kathrin; Gonczarowska-Jorge, Humberto; Griffin, Helen; Roos, Andreas; Bartsakoulia, Marina; Bansagi, Boglarka; Ricci, Giulia; Palinkas, Fanni; Zahedi, René P.; Bruni, Francesco; Kaspar, Brian; Lochmüller, Hanns; Boycott, Kym M.; Müller, Juliane; Horvath, Rita
Ítem Accés Obert Neuromuscular junction changes in a mouse model of charcot-marie-tooth disease type 4C(MDPI, 2018) Cipriani, Silvia; Phan, Vietxuan; Médard, Jean-Jacques; Horvath, Rita; Lochmüller, Hanns; Chrast, Roman; Roos, Andreas; Spendiff, Sally
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
Ítem Accés Obert Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome(Oxford University Press, 2019) McMacken, Grace M.; Spendiff, Sally; Whittaker, Roger G.; O'Connor, Emily; Howarth, Rachel M.; Boczonadi, Veronika; Horvath, Rita; Slater, Clarke R.; Lochmüller, Hanns
Ítem Accés Obert Severe neurodevelopmental disease caused by a homozygous TLK2 variant(Springer, 2020) Topf, Ana; Oktay, Yavuz; Balaraju, Sunitha; Yilmaz, Elmasnur; Sonmezler, Ece; Yis, Uluc; Laurie, Steven, 1973-; Thompson, Rachel; Roos, Andreas; MacArthur, Daniel G.; Yaramis, Ahmet; Güngör, Serdal; Lochmüller, Hanns; Hiz, Semra; Horvath, Rita