Browsing by Author "975e2469-59ed-4143-ba8f-e9c958772e0a"

Now showing items 1-4 of 4

    • Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy 
      Wang, Haicui; Castiglioni, Claudia; Bayram, Ayse Kacar; Fattori, Fabiana; Pekuz, Serdar; Araneda, Diego; Per, Huseyin; Erazo, Ricardo; Gumus, Hakan; Zorludemir, Suzan; Becker, Kerstin; Ortega, Ximena; Bevilacqua, Jorge; Bertini, Enrico; Cirak, Sebahattin (Elsevier, 2017)
      Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital myopathies, defined histologically by increased number of fibres with centrally located nuclei, and type I fibre predominance ...
    • Keloids, spontaneous or after minor skin injury: Importance of not missing Bethlem myopathy 
      Echeverría, Constanza; Diaz, Alejandra; Suarez, Bernardita; Bevilacqua, Jorge; Bonnemann, Carsten; Bertini, Enrico; Castiglioni, Claudia (Medical Journals/Acta D-V, 2017)
    • Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy 
      Castiglioni, Claudia; Cassandrini, Denis; Fattori, Fabiana; Bellacchio, Emanuele; D'Amico, Adele; Alvarez, Karin; Gejman, Roger; Gonzalo Díaz, Jorge; Santorelli, Filippo M.; Romero, Norma B.; Bertini, Enrico; Bevilacqua, Jorge (John Wiley and Sons Inc., 2014)
      © 2014 Wiley Periodicals, Inc.Introduction: Muscle biopsy is usually diagnostic in nemaline myopathy (NM), but some patients may show nonspecific findings, leading to pitfalls in diagnosis. Muscle MRI is a helpful complementary ...
    • Neuromyopathy with congenital cataracts and glaucoma: A distinct syndrome caused by POLG variants /692/308 ... 
      Castiglioni, Claudia; Fattori, Fabiana; Udd, Bjarne; De Los Angeles Avaria, Maria; Suarez, Bernardita; D'Amico, Adele; Malandrini, Alessandro; Carrozzo, Rosalba; Verrigni, Daniela; Bertini, Enrico; Tasca, Giorgio (Nature Publishing Group, 2018)
      © 2018 European Society of Human Genetics.We identified three non-related patients manifesting a childhood-onset progressive neuromyopathy with congenital cataracts, delayed walking, distal weakness and wasting, glaucoma ...