Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Emil Polak"'
Autor:
Roeland A F Evers, Mariusz Ołtarzewski, Georg F. Hoffmann, Vincenzo Leuzzi, Emil Polak, Youngguo Yu, Maria Gizewska, Belén Pérez, Ana Chiesa, Marianne Rohrbach, Alexander V. Polyakov, Lena Fajkusova, Maja Stojiljkovic, Carla Carducci, Beat Thöny, Farès Namour, Jerry Vockley, Andrea Paras, Francjan J. van Spronsen, François Feillet, Sabine Scholl-Bürgi, Francesco Porta, Amaya Belanger-Quintana, Anastasia Skouma, Barbara K. Burton, Pedro E. Bonfim-Freitas, Sergey I. Kutsev, Johannes Zschocke, Uta Lichter-Konecki, Luiz Carlos Santana da Silva, Katya Kneller, Lourdes R. Desviat, Sven F. Garbade, Aviva Eliyahu, Alicia Hillert, Vera Stoppioni, Nenad Blau, Polina Gundorova, Norma Specola, Yair Anikster, John Christodoulou, Alberto Burlina, Maja Đorđević, Daniela Karall, Harvey L. Levy, Nan Shen, Friedrich K. Trefz, Ania C. Muntau
Publikováno v:
Am J Hum Genet
American Journal of Human Genetics, 107(2), 234-250. CELL PRESS
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
American Journal of Human Genetics, 107(2), 234-250. CELL PRESS
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We estimated that globally 0.45 million individuals have PKU, with global prev
Autor:
Peter Spalek, Alica Valachova, Eva Radvanska, Ludevit Kadasi, Emil Polak, Tomáš Szemes, Jan Radvanszky, Gabriela Magyarova, Csaba Bognar, Michaela Hyblova
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 3934, p 3934 (2021)
Journal of Clinical Medicine
Volume 10
Issue 17
Journal of Clinical Medicine
Volume 10
Issue 17
Myotonic dystrophy type 2 (DM2) is caused by expansion of a (CCTG)n repeat in the cellular retroviral nucleic acid-binding protein (CNBP) gene. The sequence of the repeat is most commonly interrupted and is stably inherited in the general population.
Autor:
Andrea Soltysova, Ludevit Kadasi, Emil Polak, Martina Pecimonova, Maja Stojiljkovic, Frantisek Csicsay, Zdenko Levarski, Kamila Réblová, Ludovit Skultety
Publikováno v:
General physiology and biophysics. 36(4)
Phenylketonuria (PKU) and hyperphenylalaninemia (HPA) are a group of genetic disorders predominantly caused by mutations in the phenylalanine hydroxylase (PAH) gene. To date, more than 950 variants have been identified, however the pathogenic mechani
Publikováno v:
Neuromuscular Disorders. 23:591-598
Myotonic dystrophy comprises at least two genetically distinct forms, DM1 and DM2. DM2 is caused by expansion of the (CCTG)n repeat tract in the CNBP gene. The CCTG tract is generally interrupted in healthy range alleles by GCTG, TCTG or ACTG motifs.
Autor:
Otto Urge, Andrea Soltysova, Andrej Ficek, Dana Kantarska, Emil Polak, Eleonora Cmelova, Jan Radvanszky, Ludevit Kadasi
Publikováno v:
Gene. 526(2)
We investigated the mutation spectrum of the phenylalanine hydroxylase gene (PAH) in a cohort of patients from 135 Slovak PKU families. Mutational screening of the known coding region, including conventional intron splice sites, was performed using h