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Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Schon, Katherine; van Os, Nienke J H; Oscroft, Nicholas; Baxendale, Helen; Scoffings, Daniel; Ray, Julian; Suri, Mohnish; Whitehouse, William P; Mehta, Puja R; Everett, Natasha; Bottolo, Leonardo; van de Warrenburg, Bart P; Byrd, Philip J; Weemaes, Corry; Willemsen, Michel A; Tischkowitz, Marc; Taylor, A Malcolm; Hensiek, Anke E.
Afiliação
  • Schon K; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
  • van Os NJH; Departments of Neurology & Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Oscroft N; Ataxia Telangiectasia Service, Respiratory Support and Sleep Centre, Papworth Hospital, Cambridge, United Kingdom.
  • Baxendale H; Ataxia Telangiectasia Service, Respiratory Support and Sleep Centre, Papworth Hospital, Cambridge, United Kingdom.
  • Scoffings D; Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
  • Ray J; Department of Neurophysiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
  • Suri M; Nottingham Clinical Genetics Service, National Paediatric Ataxia-Telangiectasia Clinic, Nottingham, United Kingdom.
  • Whitehouse WP; School of Medicine, University of Nottingham, Queen's Medical Centre, Nottingham, United Kingdom.
  • Mehta PR; Department of Paediatric Neurology, Nottingham Children's Hospital, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.
  • Everett N; Ataxia Telangiectasia Service, Respiratory Support and Sleep Centre, Papworth Hospital, Cambridge, United Kingdom.
  • Bottolo L; Ataxia Telangiectasia Service, Respiratory Support and Sleep Centre, Papworth Hospital, Cambridge, United Kingdom.
  • van de Warrenburg BP; Department of Medical Genetics, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Byrd PJ; The Alan Turing Institute, British Library, London, United Kingdom.
  • Weemaes C; MRC Biostatistics Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Willemsen MA; Departments of Neurology & Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Tischkowitz M; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom.
  • Taylor AM; Department of Pediatrics, Radboudumc Amalia Children's Hospital, Nijmegen, The Netherlands.
  • Hensiek AE; Departments of Neurology & Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.
Ann Neurol ; 85(2): 170-180, 2019 02.
Article em En | MEDLINE | ID: mdl-30549301
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças dos Gânglios da Base / Índice de Gravidade de Doença / Ataxia Telangiectasia / Genótipo Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças dos Gânglios da Base / Índice de Gravidade de Doença / Ataxia Telangiectasia / Genótipo Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Reino Unido