Margherita Milone, MD, PhD

  • 3790 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.

  • 10 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
Nuclear Family
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
Muscular Dystrophies
Muscle Weakness

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
Myotonia Congenita
Symptom Assessment
Neurologic Manifestations
Age of Onset
1 Citation (Scopus)
Myotonia Congenita
Muscular Dystrophies
Missense Mutation
8 Citations (Scopus)
Myasthenia Gravis
National Institute of Neurological Disorders and Stroke