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A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.
Szczaluba, K; Szymanska, K; Rydzanicz, M; Ciara, E; Walczak, A; Piekutowska-Abramczuk, D; Kosinska, J; Jacoszek, A; Czerska, K; Biernacka, A; Laure-Kamionowska, M; Gasperowicz, P; Pronicka, E; Ploski, R.
Afiliação
  • Szczaluba K; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Szymanska K; Department of Child Psychiatry, Medical University of Warsaw, Warsaw, Poland.
  • Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Walczak A; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Kosinska J; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Jacoszek A; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Czerska K; MEDGEN Medical Centre, Warsaw, Poland.
  • Biernacka A; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Laure-Kamionowska M; Department of Experimental and Clinical Neuropathology, Mossakowski Medical Research Center, Polish Academy of Sciences, Warsaw, Poland.
  • Gasperowicz P; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Pronicka E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
Clin Genet ; 93(5): 1107-1108, 2018 05.
Article em En | MEDLINE | ID: mdl-29243232
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Levodopa / Dineínas do Citoplasma Limite: Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Levodopa / Dineínas do Citoplasma Limite: Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article