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Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB.
Keogh, Michael J; Pyle, Angela; Daud, Daniyal; Griffin, Helen; Douroudis, Konstantinos; Eglon, Gail; Miller, James; Horvath, Rita; Chinnery, Patrick F.
Afiliação
  • Keogh MJ; From the Wellcome Centre for Mitochondrial Research (M.J.K., A.P., D.D., H.G., K.D., G.E., R.H., P.F.C.), Institute of Genetic Medicine, Centre for Life, Newcastle University; and Royal Victoria Infirmary (M.J.K., J.M., R.H., P.F.C.), Newcastle Upon Tyne, UK.
  • Pyle A; From the Wellcome Centre for Mitochondrial Research (M.J.K., A.P., D.D., H.G., K.D., G.E., R.H., P.F.C.), Institute of Genetic Medicine, Centre for Life, Newcastle University; and Royal Victoria Infirmary (M.J.K., J.M., R.H., P.F.C.), Newcastle Upon Tyne, UK.
  • Daud D; From the Wellcome Centre for Mitochondrial Research (M.J.K., A.P., D.D., H.G., K.D., G.E., R.H., P.F.C.), Institute of Genetic Medicine, Centre for Life, Newcastle University; and Royal Victoria Infirmary (M.J.K., J.M., R.H., P.F.C.), Newcastle Upon Tyne, UK.
  • Griffin H; From the Wellcome Centre for Mitochondrial Research (M.J.K., A.P., D.D., H.G., K.D., G.E., R.H., P.F.C.), Institute of Genetic Medicine, Centre for Life, Newcastle University; and Royal Victoria Infirmary (M.J.K., J.M., R.H., P.F.C.), Newcastle Upon Tyne, UK.
  • Douroudis K; From the Wellcome Centre for Mitochondrial Research (M.J.K., A.P., D.D., H.G., K.D., G.E., R.H., P.F.C.), Institute of Genetic Medicine, Centre for Life, Newcastle University; and Royal Victoria Infirmary (M.J.K., J.M., R.H., P.F.C.), Newcastle Upon Tyne, UK.
  • Eglon G; From the Wellcome Centre for Mitochondrial Research (M.J.K., A.P., D.D., H.G., K.D., G.E., R.H., P.F.C.), Institute of Genetic Medicine, Centre for Life, Newcastle University; and Royal Victoria Infirmary (M.J.K., J.M., R.H., P.F.C.), Newcastle Upon Tyne, UK.
  • Miller J; From the Wellcome Centre for Mitochondrial Research (M.J.K., A.P., D.D., H.G., K.D., G.E., R.H., P.F.C.), Institute of Genetic Medicine, Centre for Life, Newcastle University; and Royal Victoria Infirmary (M.J.K., J.M., R.H., P.F.C.), Newcastle Upon Tyne, UK.
  • Horvath R; From the Wellcome Centre for Mitochondrial Research (M.J.K., A.P., D.D., H.G., K.D., G.E., R.H., P.F.C.), Institute of Genetic Medicine, Centre for Life, Newcastle University; and Royal Victoria Infirmary (M.J.K., J.M., R.H., P.F.C.), Newcastle Upon Tyne, UK.
  • Chinnery PF; From the Wellcome Centre for Mitochondrial Research (M.J.K., A.P., D.D., H.G., K.D., G.E., R.H., P.F.C.), Institute of Genetic Medicine, Centre for Life, Newcastle University; and Royal Victoria Infirmary (M.J.K., J.M., R.H., P.F.C.), Newcastle Upon Tyne, UK. p.f.chinnery@newcastle.ac.uk.
Neurology ; 84(17): 1818-20, 2015 Apr 28.
Article em En | MEDLINE | ID: mdl-25832657
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças dos Gânglios da Base / Calcinose / Genes sis Limite: Adult / Female / Humans / Middle aged Idioma: En Revista: Neurology Ano de publicação: 2015 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 / Calcinose / Genes sis Limite: Adult / Female / Humans / Middle aged Idioma: En Revista: Neurology Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Reino Unido