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A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture.
Pancheri, Elia; Bozzetti, Silvia; Rimessi, Paola; Macchione, Francesco; Barillari, Marco; Venturoli, Anna; Guglielmi, Valeria; Fortunato, Fernanda; Tonin, Paola; Vattemi, Gaetano.
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  • Pancheri E; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
  • Bozzetti S; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
  • Rimessi P; UOL of Medical Genetics, Department of Reproduction and Growth and Department of Medical Science, University Hospital S. Anna, Ferrara, Italy.
  • Macchione F; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
  • Barillari M; Department of Diagnostics and Public Heath, Section of Radiology, University of Verona, Verona, Italy.
  • Venturoli A; UOL of Medical Genetics, Department of Reproduction and Growth and Department of Medical Science, University Hospital S. Anna, Ferrara, Italy.
  • Guglielmi V; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
  • Fortunato F; UOL of Medical Genetics, Department of Reproduction and Growth and Department of Medical Science, University Hospital S. Anna, Ferrara, Italy.
  • Tonin P; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
  • Vattemi G; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy. Electronic address: gaetano.vattemi@univr.it.
Clin Neurol Neurosurg ; 186: 105536, 2019 Nov.
Article en En | MEDLINE | ID: mdl-31574358
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Rotura Espontánea / Proteínas Nucleares / Cuerdas Tendinosas / Distrofia Muscular de Emery-Dreifuss / Proteínas de la Membrana / Mutación Límite: Adult / Humans / Male Idioma: En Revista: Clin Neurol Neurosurg Año: 2019 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Rotura Espontánea / Proteínas Nucleares / Cuerdas Tendinosas / Distrofia Muscular de Emery-Dreifuss / Proteínas de la Membrana / Mutación Límite: Adult / Humans / Male Idioma: En Revista: Clin Neurol Neurosurg Año: 2019 Tipo del documento: Article País de afiliación: Italia