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A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.
Krygier, Magdalena; Kwarciany, Mariusz; Wasilewska, Krystyna; Pienkowski, Victor Murcia; Krawczynska, Natalia; Zielonka, Daniel; Kosinska, Joanna; Stawinski, Piotr; Rudzinska-Bar, Monika; Boczarska-Jedynak, Magdalena; Karaszewski, Bartosz; Limon, Janusz; Slawek, Jaroslaw; Ploski, Rafal; Rydzanicz, Malgorzata.
Afiliación
  • Krygier M; Department of Developmental Neurology, University Clinical Centre, Medical University of Gdansk, Gdansk, Poland.
  • Kwarciany M; Department of Biology and Medical Genetics, Medical University of Gdansk, Gdansk, Poland.
  • Wasilewska K; Department of Adult Neurology, Medical University of Gdansk, Gdansk, Poland.
  • Pienkowski VM; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Krawczynska N; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Zielonka D; Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland.
  • Kosinska J; Department of Biology and Medical Genetics, Medical University of Gdansk, Gdansk, Poland.
  • Stawinski P; Department of Public Health, Poznan University of Medical Sciences, Poznan, Poland.
  • Rudzinska-Bar M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Boczarska-Jedynak M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Karaszewski B; Faculty of Medicine and Health Sciences, Andrzej Frycz Modrzewski Krakow University, Krakow, Poland.
  • Limon J; Department Of Neurology and Restorative Medicine, Health Institute dr Boczarska-Jedynak, Oswiecim, Poland.
  • Slawek J; Department of Adult Neurology, Medical University of Gdansk, Gdansk, Poland.
  • Ploski R; Polish Academy of Sciences, Gdansk, Poland.
  • Rydzanicz M; Department of Biology and Medical Genetics, Medical University of Gdansk, Gdansk, Poland.
Clin Genet ; 95(3): 415-419, 2019 03.
Article en En | MEDLINE | ID: mdl-30548255
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Ataxia / Heterogeneidad Genética / Proteínas Asociadas a Microtúbulos / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: Clin Genet Año: 2019 Tipo del documento: Article País de afiliación: Polonia Pais de publicación: Dinamarca
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Ataxia / Heterogeneidad Genética / Proteínas Asociadas a Microtúbulos / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: Clin Genet Año: 2019 Tipo del documento: Article País de afiliación: Polonia Pais de publicación: Dinamarca