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Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki, Marcin M; Guglielmi, Valeria; Pancheri, Elia; Gualandi, Francesca; Verriello, Lorenzo; Pruszczyk, Katarzyna; Kosinska, Joanna; Sangalli, Antonella; Rydzanicz, Malgorzata; Romanelli, Maria Grazia; Neri, Marcella; Ploski, Rafal; Tonin, Paola; Tomelleri, Giuliano; Stoklosa, Tomasz; Vattemi, Gaetano.
Afiliación
  • Machnicki MM; Department of Immunology, Medical University of Warsaw, Warsaw, Poland.
  • Guglielmi V; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
  • Pancheri E; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
  • Gualandi F; UOL of Medical Genetics, Department of Medical Science, University of Ferrara, Ferrara, Italy.
  • Verriello L; Neurologic Clinic, Department of Neurological Sciences, Azienda Sanitaria Universitaria Integrata di Udine, Udine, Italy.
  • Pruszczyk K; Department of Immunology, Medical University of Warsaw, Warsaw, Poland.
  • Kosinska J; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Sangalli A; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biology and Genetics, University of Verona, Verona, Italy.
  • Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Romanelli MG; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biology and Genetics, University of Verona, Verona, Italy.
  • Neri M; UOL of Medical Genetics, Department of Medical Science, University of Ferrara, Ferrara, Italy.
  • Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Tonin P; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
  • Tomelleri G; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
  • Stoklosa T; Department of Immunology, Medical University of Warsaw, Warsaw, Poland. tomasz.stoklosa@wum.edu.pl.
  • Vattemi G; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy. gaetano.vattemi@univr.it.
Neurol Sci ; 42(7): 2819-2827, 2021 Jul.
Article en En | MEDLINE | ID: mdl-33170376
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Miopatías Estructurales Congénitas / Agregado de Proteínas Tipo de estudio: Risk_factors_studies Límite: Female / Humans Idioma: En Revista: Neurol Sci Asunto de la revista: NEUROLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Polonia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Miopatías Estructurales Congénitas / Agregado de Proteínas Tipo de estudio: Risk_factors_studies Límite: Female / Humans Idioma: En Revista: Neurol Sci Asunto de la revista: NEUROLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Polonia