Browsing by Author "Horvath, Rita"

Sort by: Order: Results:

  • Gangfuß, Andrea; Lochmüller, Hanns; Töpf, Ana; O'Hehir, Emily; Horvath, Rita; Kölbel, Heike; Schweiger, Bernd; Schara-Schmidt, Ulrike; Roos, Andreas (Wiley, 2022)
    CSDE1 encodes the cytoplasmic cold shock domain-containing protein E1 (CSDE1), which is highly conserved across species and functions as an RNA-binding protein involved in translationally coupled mRNA turnover. CSDE1 ...
  • 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. (Nature Research, 2021)
    The genetic etiology of intellectual disability remains elusive in almost half of all affected individuals. Within the Solve-RD consortium, systematic re-analysis of whole exome sequencing (WES) data from unresolved cases ...
  • Gungor, Serdal; Aranguren-Ibáñez, Álvaro; Laurie, Steven, 1973-; Beltran, Sergi; Vernos, Isabelle, 1959-; Horvath, Rita (Cell Press, 2020)
    Microtubules help building the cytoskeleton of neurons and other cells. Several components of the gamma-tubulin (γ-tubulin) complex have been previously reported in human neurodevelopmental diseases. We describe two siblings ...
  • McMacken, Grace M.; Lochmüller, Hanns; Bansagi, Boglarka; Pyle, Angela; Lochmüller, Angela; Chinnery, Patrick F.; Laurie, Steven, 1973-; Beltran, Sergi; Matalonga, Leslie; Horvath, Rita (Springer, 2020)
    Background: Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spastic paraparesis, and motor neuropathy often associated with ataxia. The molecular ...
  • 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 (Lippincott Williams & Wilkins, 2020)
    OBJECTIVE: This study presents the neurologic phenotypes of 2 brothers with a novel homozygous COL4A1 mutation that was identified in a large Turkish consanguineous cohort of neurogenetic diseases. METHODS: Whole-exome ...
  • Kurul, Semra Hiz; Matalonga, Leslie; Paramonov, Ida; Laurie, Steven, 1973-; Beltran, Sergi; Lochmüller, Hanns; Horvath, Rita (Oxford University Press, 2021)
    Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk of autosomal recessive genetic conditions, leading to severe disability or premature death, with a significant health and ...
  • 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 (Wiley, 2022)
    Recessive variants in WASHC4 are linked to intellectual disability complicated by poor language skills, short stature, and dysmorphic features. The protein encoded by WASHC4 is part of the Wiskott-Aldrich syndrome protein ...
  • Matalonga, Leslie; Laurie, Steven; 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 (Elsevier, 2020)
    Autozygosity is associated with an increased risk of genetic rare disease, thus being a relevant factor for clinical genetic studies. More than 2400 exome sequencing data sets were analyzed and screened for autozygosity ...
  • Hathazi, Denisa; Lochmüller, Hanns; Horvath, Rita (EMBO Press, 2020)
    Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy leading to severe metabolic disturbances in infants, which recover spontaneously after 6-months of age. RIRCD is associated with ...
  • O'Connor, Emily; Cairns, George; Spendiff, Sally; Burns, David; Hettwer, Stefan; Mäder, Armin; Müller, Juliane; Horvath, Rita; Slater, Clarke R.; Roos, Andreas; Lochmüller, Hanns (MDPI, 2019)
    Congenital myasthenic syndromes (CMS) are a group of rare, inherited disorders characterised by impaired function of the neuromuscular junction (NMJ). This is due to defects in one of the many proteins associated with the ...
  • 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 (Frontiers Media, 2020)
    Introduction: Congenital myasthenic syndromes (CMS) are a diverse group of inherited neuromuscular disorders characterized by a failure of synaptic transmission at the neuromuscular junction (NMJ). CMS often present early ...
  • 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 (Wolters Kluwer (LWW), 2018)
    Objective: To describe a patient with a multifocal demyelinating motor neuropathy with onset in childhood and a mutation in phosphatase and tensin homolog (PTEN), a tumor suppressor gene associated with inherited tumor ...
  • 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 (Oxford University Press, 2018)
    The nuclear-encoded glycyl-tRNA synthetase gene (GARS) is essential for protein translation in both cytoplasm and mitochondria. In contrast, different genes encode the mitochondrial and cytosolic forms of most other tRNA ...
  • Cipriani, Silvia; Phan, Vietxuan; Médard, Jean-Jacques; Horvath, Rita; Lochmüller, Hanns; Chrast, Roman; Roos, Andreas; Spendiff, Sally (MDPI, 2018)
    The neuromuscular junction (NMJ) appears to be a site of pathology in a number of peripheral nerve diseases. Charcot-Marie-Tooth (CMT) 4C is an autosomal recessive, early onset, demyelinating neuropathy. Numerous mutations ...
  • 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 (BioMed Central, 2022)
    Background: Goltz syndrome (GS) is a X-linked disorder defined by defects of mesodermal- and ectodermal-derived structures and caused by PORCN mutations. Features include striated skin-pigmentation, ocular and skeletal ...
  • McMacken, Grace M.; Spendiff, Sally; Whittaker, Roger G.; O'Connor, Emily; Howarth, Rachel M.; Boczonadi, Veronika; Horvath, Rita; Slater, Clarke R.; Lochmüller, Hanns (Oxford University Press, 2019)
    The β-adrenergic agonists salbutamol and ephedrine have proven to be effective as therapies for human disorders of the neuromuscular junction, in particular many subsets of congenital myasthenic syndromes. However, the ...
  • 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 (Springer, 2020)
    A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay and facial dysmorphism, caused by heterozygous de novo or dominant variants in the TLK2 gene has recently been described. All ...