Margherita Milone, MD, PhD

  • 3940 Citations
  • 33 Scopus h-Index
1990 …2020

Research output per year

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Research Output

A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathy

Nicolau, S., Liewluck, T., Elliott, J. L., Engel, A. G. & Milone, M., Mar 2020, In : Neuromuscular Disorders. 30, 3, p. 236-240 5 p.

Research output: Contribution to journalArticle

  • Myopathies with finger flexor weakness: Not only inclusion-body myositis

    Nicolau, S., Liewluck, T. & Milone, M., Jan 1 2020, (Accepted/In press) In : Muscle and Nerve.

    Research output: Contribution to journalReview article

  • Transthyretin amyloidosis: Putting myopathy on the map

    Pinto, M. V., Milone, M., Mauermann, M. L., Dyck, P. J. B., Alhammad, R., McPhail, E. D., Grogan, M. & Liewluck, T., Jan 1 2020, In : Muscle and Nerve. 61, 1, p. 95-100 6 p.

    Research output: Contribution to journalArticle

  • 1 Scopus citations

    ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles

    Liewluck, T., Niu, Z., Moore, S. A., Alsharabati, M. & Milone, M., May 2019, In : Neuromuscular Disorders. 29, 5, p. 388-391 4 p.

    Research output: Contribution to journalArticle

  • 2 Scopus citations

    A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission

    Nicolau, S., Liewluck, T., Shen, X. M., Selcen, D., Engel, A. G. & Milone, M., Aug 1 2019, In : Neuromuscular Disorders. 29, 8, p. 614-617 4 p.

    Research output: Contribution to journalArticle

  • 2 Scopus citations