Margherita Milone, MD, PhD

  • 3685 Citations
  • 33 Scopus h-Index
1990 …2019
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Fingerprint Dive into the research topics where Margherita Milone is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 6 Similar Profiles
Mutation Medicine & Life Sciences
Congenital Myasthenic Syndromes Medicine & Life Sciences
Muscular Diseases Medicine & Life Sciences
Cholinergic Receptors Medicine & Life Sciences
Muscles Medicine & Life Sciences
Muscle Weakness Medicine & Life Sciences
Mitochondrial Diseases Medicine & Life Sciences
Genes Medicine & Life Sciences

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Research Output 1990 2019

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

Muscular Diseases
Vacuoles
Nuclear Family
Fathers
Fingers
1 Citation (Scopus)

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

Congenital Myasthenic Syndromes
Congenital Structural Myopathies
Mutation
Muscular Dystrophies
Muscle Weakness
Myotonia Congenita
Selenoproteins
Muscular Dystrophies
Missense Mutation
Scoliosis
2 Citations (Scopus)
Thymectomy
Myasthenia Gravis
Prednisone
National Institute of Neurological Disorders and Stroke
Edrophonium

Neuromuscular transmission defects in myopathies

Liewluck, T., Laughlin, R. S., Litchy, W. J. & Milone, M., Jan 1 2019, In : Muscle and Nerve.

Research output: Contribution to journalLetter

Muscular Diseases