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De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Parolin Schnekenberg, Ricardo; Perkins, Emma M; Miller, Jack W; Davies, Wayne I L; D'Adamo, Maria Cristina; Pessia, Mauro; Fawcett, Katherine A; Sims, David; Gillard, Elodie; Hudspith, Karl; Skehel, Paul; Williams, Jonathan; O'Regan, Mary; Jayawant, Sandeep; Jefferson, Rosalind; Hughes, Sarah; Lustenberger, Andrea; Ragoussis, Jiannis; Jackson, Mandy; Tucker, Stephen J; Németh, Andrea H.
Afiliação
  • Parolin Schnekenberg R; 1 Wellcome Trust Centre for Human Genetics, University of Oxford, OX3 7BN, UK 2 Universidade Positivo, School of Medicine, Rua Parigot de Souza 5300, 81280-330, Curitiba, Brazil.
  • Perkins EM; 3 Centre for Integrative Physiology, Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, UK.
  • Miller JW; 4 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.
  • Davies WI; 4 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK 5 School of Animal Biology, University of Western Australia, Perth, Australia 6 Section of Physiology & Biochemistry, Department of Experimental Medicine, School of Medicine & Surgery, University of Per
  • D'Adamo MC; 6 Section of Physiology & Biochemistry, Department of Experimental Medicine, School of Medicine & Surgery, University of Perugia, P.le Gambuli 1, Edificio D, Piano 106132 San Sisto, Perugia, Italy.
  • Pessia M; 6 Section of Physiology & Biochemistry, Department of Experimental Medicine, School of Medicine & Surgery, University of Perugia, P.le Gambuli 1, Edificio D, Piano 106132 San Sisto, Perugia, Italy 7 Department of Neural and Behavioral Sciences, Pennsylvania State University College of Medici
  • Fawcett KA; 8 CGAT Programme, MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3PT, UK.
  • Sims D; 8 CGAT Programme, MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3PT, UK.
  • Gillard E; 4 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.
  • Hudspith K; 4 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.
  • Skehel P; 3 Centre for Integrative Physiology, Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, UK.
  • Williams J; 9 Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, OX3 7LJ, UK.
  • O'Regan M; 10 Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow G3 8SJ, UK.
  • Jayawant S; 11 Department of Paediatrics, Oxford University Hospitals NHS Trust, Oxford, OX3 9DU, UK.
  • Jefferson R; 12 Department of Paediatrics, Royal Berkshire Foundation Trust Hospital, Reading, UK.
  • Hughes S; 12 Department of Paediatrics, Royal Berkshire Foundation Trust Hospital, Reading, UK.
  • Lustenberger A; 13 Department of Neuropaediatrics, Development and Rehabilitation, University Children's Hospital, Inselspital, Bern, Switzerland.
  • Ragoussis J; 1 Wellcome Trust Centre for Human Genetics, University of Oxford, OX3 7BN, UK.
  • Jackson M; 3 Centre for Integrative Physiology, Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, UK andrea.nemeth@ndcn.ox.ac.uk Mandy.Jackson@ed.ac.uk stephen.tucker@physics.ox.ac.uk.
  • Tucker SJ; 14 Clarendon Laboratory, Department of Physics, University of Oxford, OX1 3PU, UK 15 OXION Initiative in Ion Channels and Disease, University of Oxford, OX1 3PT, UK andrea.nemeth@ndcn.ox.ac.uk Mandy.Jackson@ed.ac.uk stephen.tucker@physics.ox.ac.uk.
  • Németh AH; 4 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK 16 Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, OX3 7LJ, UK andrea.nemeth@ndcn.ox.ac.uk Mandy.Jackson@ed.ac.uk stephen.tucker@physics.ox.ac.uk.
Brain ; 138(Pt 7): 1817-32, 2015 Jul.
Article em En | MEDLINE | ID: mdl-25981959
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Paralisia Cerebral / Espectrina / Mutação Puntual / Canais de Potássio Shaw / Receptores de Inositol 1,4,5-Trifosfato / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Child, preschool / Humans / Infant / Male / Newborn Idioma: En Revista: Brain Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Brasil
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Paralisia Cerebral / Espectrina / Mutação Puntual / Canais de Potássio Shaw / Receptores de Inositol 1,4,5-Trifosfato / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Child, preschool / Humans / Infant / Male / Newborn Idioma: En Revista: Brain Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Brasil