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Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy.
Winter, Lilli; Türk, Matthias; Harter, Patrick N; Mittelbronn, Michel; Kornblum, Cornelia; Norwood, Fiona; Jungbluth, Heinz; Thiel, Christian T; Schlötzer-Schrehardt, Ursula; Schröder, Rolf.
Afiliação
  • Winter L; Institute of Neuropathology, Friedrich-Alexander University Erlangen-Nürnberg (FAU), Schwabachanlage 6, 91054, Erlangen, Germany.
  • Türk M; Department of Neurology, Friedrich-Alexander University Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Harter PN; Institute of Neurology (Edinger Institute), Goethe University Frankfurt, Frankfurt, Germany.
  • Mittelbronn M; Institute of Neurology (Edinger Institute), Goethe University Frankfurt, Frankfurt, Germany.
  • Kornblum C; Department of Neurology, University Hospital of Bonn, Bonn, Germany.
  • Norwood F; Center for Rare Diseases Bonn (ZSEB), University Hospital of Bonn, Bonn, Germany.
  • Jungbluth H; Department of Neurology, Ruskin Wing, King's College Hospital, London, UK.
  • Thiel CT; Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, St Thomas' Hospital, London, UK.
  • Schlötzer-Schrehardt U; Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section, King's College, London, UK.
  • Schröder R; Department of Basic and Clinical Neuroscience, IoPPN, King's College, London, UK.
Acta Neuropathol Commun ; 4(1): 44, 2016 04 27.
Article em En | MEDLINE | ID: mdl-27121971
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epidermólise Bolhosa Simples / Distrofia Muscular do Cíngulo dos Membros / Plectina / Mutação Limite: Adult / Female / Humans Idioma: En Revista: Acta Neuropathol Commun Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epidermólise Bolhosa Simples / Distrofia Muscular do Cíngulo dos Membros / Plectina / Mutação Limite: Adult / Female / Humans Idioma: En Revista: Acta Neuropathol Commun Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido