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Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients.
Mészárosová, Anna Uhrová; Grecmalová, Dagmar; Brázdilová, Michaela; Dvorácková, Nina; Kalina, Zdenek; Cermáková, Marie; Vávrová, Dagmar; Smetanová, Irena; Stanek, David; Seeman, Pavel.
Afiliação
  • Mészárosová AU; DNA Laboratory, Department of Child Neurology, Charles University 2nd Medical School and University Hospital Motol, Prague, Czech Republic.
  • Grecmalová D; Department of Medical Genetics, Faculty Hospital Ostrava, Ostrava, Czech Republic.
  • Brázdilová M; Department of Child Neurology, Charles University 2nd Medical School and University Hospital Motol, Prague, Czech Republic.
  • Dvorácková N; Department of Medical Genetics, Faculty Hospital Ostrava, Ostrava, Czech Republic.
  • Kalina Z; Department of Medical Genetics, Faculty Hospital Brno, Brno, Czech Republic.
  • Cermáková M; Centre for Medical Genetics and Reproductive Medicine GENNET, Prague, Czech Republic.
  • Vávrová D; Centre for Medical Genetics and Reproductive Medicine GENNET, Prague, Czech Republic.
  • Smetanová I; Centre for Medical Genetics and Reproductive Medicine GENNET, Prague, Czech Republic.
  • Stanek D; DNA Laboratory, Department of Child Neurology, Charles University 2nd Medical School and University Hospital Motol, Prague, Czech Republic.
  • Seeman P; DNA Laboratory, Department of Child Neurology, Charles University 2nd Medical School and University Hospital Motol, Prague, Czech Republic.
Ann Hum Genet ; 81(6): 249-257, 2017 Nov.
Article em En | MEDLINE | ID: mdl-28736820

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Proteínas de Ligação ao GTP / Proteínas de Membrana Limite: Adolescent / Adult / Child / Female / Humans / Infant / Male / Middle aged País como assunto: Europa Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Proteínas de Ligação ao GTP / Proteínas de Membrana Limite: Adolescent / Adult / Child / Female / Humans / Infant / Male / Middle aged País como assunto: Europa Idioma: En Ano de publicação: 2017 Tipo de documento: Article