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The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort.
Piekutowska-Abramczuk, Dorota; Kaliszewska, Magdalena; Sulek, Anna; Jurkowska, Natalia; Oltarzewski, Mariusz; Jablonska, Ewa; Trubicka, Joanna; Glowacka, Aleksandra; Ciara, Elzbieta; Kowalski, Pawel; Langiewicz-Wojciechowska, Karolina; Tesarova, Marketa; Zeman, Jiri; Kierdaszuk, Biruta; Kuczynski, Dariusz; Chmielewski, Dariusz; Szymanska, Edyta; Bakula, Agnieszka; Lusakowska, Anna; Lipowska, Marta; Brodacki, Bogdan; Pera, Joanna; Dorobek, Malgorzata; Rydzanicz, Malgorzata; Ploski, Rafal; Chrzanowska, Krystyna Halina; Bartnik, Ewa; Placha, Grzegorz; Kaminska, Anna; Kostera-Pruszczyk, Anna; Krajewska-Walasek, Malgorzata; Tonska, Katarzyna; Pronicka, Ewa.
Afiliação
  • Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland. Electronic address: d.abramczuk@ipczd.pl.
  • Kaliszewska M; Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Pawinskiego 5a, 02-106 Warsaw, Poland.
  • Sulek A; Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland.
  • Jurkowska N; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Oltarzewski M; Screening Tests Department, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Jablonska E; Screening Tests Department, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
  • Trubicka J; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Glowacka A; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Kowalski P; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Langiewicz-Wojciechowska K; Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Pawinskiego 5a, 02-106 Warsaw, Poland.
  • Tesarova M; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 455/2, 128 08 Prague 2, Czech Republic.
  • Zeman J; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 455/2, 128 08 Prague 2, Czech Republic.
  • Kierdaszuk B; Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
  • Kuczynski D; Department of Neurology and Epileptology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Chmielewski D; Department of Neurology and Epileptology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Szymanska E; Department of Pediatrics, Nutrition and Metabolic Disorders, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Bakula A; Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Lusakowska A; Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
  • Lipowska M; Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
  • Brodacki B; Clinic of Neurology, Military Institute of Medicine, Szaserow 128, 04-349 Warsaw, Poland.
  • Pera J; Department of Neurology, Jagiellonian University Medical College, Botaniczna 3, 31-503 Krakow, Poland.
  • Dorobek M; Department of Neurology, Central Clinical Hospital of the Ministry of Interior in Warsaw, Woloska 137, 02-507 Warsaw, Poland.
  • Rydzanicz M; Department of Medical Genetics, Warsaw Medical University, Pawinskiego 3c, 02-106 Warsaw, Poland.
  • Ploski R; Department of Medical Genetics, Warsaw Medical University, Pawinskiego 3c, 02-106 Warsaw, Poland.
  • Chrzanowska KH; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Bartnik E; Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Pawinskiego 5a, 02-106 Warsaw, Poland; Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Pawinskiego 5a, 02-106 Warsaw, Poland.
  • Placha G; Department of Internal Medicine, Hypertension, and Vascular Diseases, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
  • Kaminska A; Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
  • Kostera-Pruszczyk A; Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
  • Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
  • Tonska K; Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Pawinskiego 5a, 02-106 Warsaw, Poland.
  • Pronicka E; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland; Department of Pediatrics, Nutrition and Metabolic Disorders, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
Mitochondrion ; 47: 179-187, 2019 07.
Article em En | MEDLINE | ID: mdl-30423451
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Esclerose Cerebral Difusa de Schilder / Mutação de Sentido Incorreto / Doenças Mitocondriais / DNA Polimerase gama / Genes Recessivos Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn País/Região como assunto: Europa Idioma: En Revista: Mitochondrion Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Esclerose Cerebral Difusa de Schilder / Mutação de Sentido Incorreto / Doenças Mitocondriais / DNA Polimerase gama / Genes Recessivos Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn País/Região como assunto: Europa Idioma: En Revista: Mitochondrion Ano de publicação: 2019 Tipo de documento: Article