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Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease.
Jahnová, Helena; Poupetová, Helena; Jirecková, Jitka; Vlásková, Hana; Kostálová, Eva; Mazanec, Radim; Zumrová, Alena; Mecír, Petr; Musová, Zuzana; Magner, Martin.
Affiliation
  • Jahnová H; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 120 00, Prague 2, Czech Republic.
  • Poupetová H; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 120 00, Prague 2, Czech Republic.
  • Jirecková J; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 120 00, Prague 2, Czech Republic.
  • Vlásková H; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 120 00, Prague 2, Czech Republic.
  • Kostálová E; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 120 00, Prague 2, Czech Republic.
  • Mazanec R; Department of Neurology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Zumrová A; Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Mecír P; Department of Neurology, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Musová Z; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Magner M; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 120 00, Prague 2, Czech Republic. martin.magner@vfn.cz.
J Neurol ; 266(8): 1953-1959, 2019 Aug.
Article in En | MEDLINE | ID: mdl-31076878
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Full text: 1 Database: MEDLINE Main subject: Tay-Sachs Disease / Muscular Atrophy / Cerebellum / Mental Disorders Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Adolescent / Adult / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: J Neurol Year: 2019 Type: Article Affiliation country: Czech Republic
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Tay-Sachs Disease / Muscular Atrophy / Cerebellum / Mental Disorders Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Adolescent / Adult / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: J Neurol Year: 2019 Type: Article Affiliation country: Czech Republic