Margherita Milone, MD, PhD

  • 3843 Citations
  • 33 Scopus h-Index
1990 …2019

Research output per year

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Research Output

ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles

Liewluck, T., Niu, Z., Moore, S. A., Alsharabati, M. & Milone, M., Jan 1 2019, In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

  • 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

    Congenital myopathies in the adult neuromuscular clinic diagnostic challenges and pitfalls

    Nicolau, S., Liewluck, T., Tracy, J. A., Laughlin, R. S. & Milone, M., Aug 1 2019, In : Neurology: Genetics. 5, 4, 341.

    Research output: Contribution to journalArticle

    Open Access
  • 1 Scopus citations

    Congenital Vocal Cord Paralysis and Late-Onset Limb-Girdle Weakness in MuSK–Congenital Myasthenic Syndrome

    Pinto, M. V., Saw, J. L. & Milone, M., Dec 20 2019, In : Frontiers in Neurology. 10, 1300.

    Research output: Contribution to journalArticle

    Open Access