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Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ-adducin model.
Sanchez Marco, Silvia Beatriz; Buhl, Edgar; Firth, Rose; Zhu, Bangfu; Gainsborough, Mary; Beleza-Meireles, Ana; Moore, Sandra; Caswell, Richard; Stals, Karen; Ellard, Sian; Kennedy, Cameron; Hodge, James J L; Majumdar, Anirban.
Afiliación
  • Sanchez Marco SB; Department of Paediatric Neurology, Bristol Children's Hospital, Bristol, UK.
  • Buhl E; School of Physiology, Pharmacology and Neuroscience, University of Bristol, Bristol, UK.
  • Firth R; School of Physiology, Pharmacology and Neuroscience, University of Bristol, Bristol, UK.
  • Zhu B; School of Physiology, Pharmacology and Neuroscience, University of Bristol, Bristol, UK.
  • Gainsborough M; Department of Community Paediatrics, Sirona Care and Health, Bristol, UK.
  • Beleza-Meireles A; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, UK.
  • Moore S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Caswell R; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Stals K; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Ellard S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Kennedy C; Department of Paediatric Dermatology, Bristol Children's Hospital, Bristol, UK.
  • Hodge JJL; School of Physiology, Pharmacology and Neuroscience, University of Bristol, Bristol, UK.
  • Majumdar A; Department of Paediatric Neurology, Bristol Children's Hospital, Bristol, UK.
Clin Genet ; 102(6): 494-502, 2022 12.
Article en En | MEDLINE | ID: mdl-36046955
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Parálisis Cerebral / Paraparesia Espástica Tipo de estudio: Prognostic_studies Límite: Adolescent / Animals / Child, preschool / Humans / Male Idioma: En Revista: Clin Genet Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Dinamarca
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Parálisis Cerebral / Paraparesia Espástica Tipo de estudio: Prognostic_studies Límite: Adolescent / Animals / Child, preschool / Humans / Male Idioma: En Revista: Clin Genet Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Dinamarca