Margherita Milone, MD, PhD

  • 3885 Citations
  • 33 Scopus h-Index
1990 …2020

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

Filter
Article
2020

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

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
2019

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

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
2 Scopus citations

Intramuscular interstitial amyloid deposition does not impact anoctaminopathy-5 phenotype

Anandan, C., Milone, M. & Liewluck, T., Jan 2019, In : Muscle and Nerve. 59, 1, p. 133-137 5 p.

Research output: Contribution to journalArticle

16 Scopus citations

Necrotizing autoimmune myopathy with tubular aggregates

Madigan, N. N., Liewluck, T., Milone, M. & Naddaf, E., Aug 13 2019, In : Neurology. 93, 7, p. 313-314 2 p.

Research output: Contribution to journalArticle

Open Access

Neuromuscular transmission defects in myopathies: Rare but worth searching for

Elahi, B., Laughlin, R. S., Litchy, W. J., Milone, M. & Liewluck, T., Jan 1 2019, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

3 Scopus citations

Slow-channel myasthenia due to novel mutation in M2 domain of AChR delta subunit

Shen, X. M., Milone, M., Wang, H. L., Banwell, B., Selcen, D., Sine, S. M. & Engel, A. G., Oct 1 2019, In : Annals of Clinical and Translational Neurology. 6, 10, p. 2066-2078 13 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Sporadic late-onset nemaline myopathy: Clinical spectrum, survival, and treatment outcomes

Naddaf, E., Milone, M., Kansagra, A., Buadi, F. & Kourelis, T., Jul 16 2019, In : Neurology. 93, 3, p. E298-E305

Research output: Contribution to journalArticle

2 Scopus citations
2018

A novel ACTA1 mutation causing progressive facioscapuloperoneal myopathy in an adult

Kao, J. C., Liewluck, T. & Milone, M., Jan 1 2018, (Accepted/In press) In : Journal of Clinical Neuroscience.

Research output: Contribution to journalArticle

1 Scopus citations

A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy

Madigan, N. N., Tracy, J. A., Litchy, W. J., Niu, Z., Chen, C., Ling, K. & Milone, M., Dec 1 2018, In : Neurology: Genetics. 4, 6, e287.

Research output: Contribution to journalArticle

2 Scopus citations

Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy

Kao, J. C., Milone, M., Selcen, D., Shen, X. M., Engel, A. G. & Liewluck, T., Nov 6 2018, In : Neurology. 91, 19, p. e1770-e1777

Research output: Contribution to journalArticle

5 Scopus citations

Fuchs’ endothelial corneal dystrophy in patients with myotonic dystrophy, Type 1

Winkler, N. S., Milone, M., Martinez-Thompson, J., Raja, H., Aleff, R. A., Patel, S. V., Fautsch, M. P., Wieben, E. D. & Baratz, K., Jun 1 2018, In : Investigative Ophthalmology and Visual Science. 59, 7, p. 3053-3057 5 p.

Research output: Contribution to journalArticle

3 Scopus citations

Muscle biopsy and electromyography correlation

Naddaf, E., Milone, M., Mauermann, M. M., Mandrekar, J. & Litchy, W. J., Oct 9 2018, In : Frontiers in Neurology. 9, OCT, 839.

Research output: Contribution to journalArticle

4 Scopus citations

Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases

Dhawan, P. S., Liewluck, T., Knapik, J. & Milone, M., May 1 2018, In : Muscle and Nerve. 57, 5, p. E124-E126

Research output: Contribution to journalArticle

2 Scopus citations

Myopathy with SQSTM1 and TIA1 variants: Clinical and pathological features

Niu, Z., Pontifex, C. S., Berini, S., Hamilton, L. E., Naddaf, E., Wieben, E. D., Aleff, R. A., Martens, K., Gruber, A., Engel, A. G., Pfeffer, G. & Milone, M., Mar 19 2018, In : Frontiers in Neurology. 9, MAR, 147.

Research output: Contribution to journalArticle

8 Scopus citations

The unfolding spectrum of inherited distal myopathies

Milone, M. & Liewluck, T., Jan 1 2018, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

4 Scopus citations

Untangling the complexity of limb-girdle muscular dystrophies

Liewluck, T. & Milone, M., Jan 1 2018, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

25 Scopus citations
2017

An adult with a rare form of congenital fiber type disproportion

Anandan, C. & Milone, M., 2017, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

Autosomal dominant calpainopathy due to heterozygous CAPN3 c.643_663del21

Martinez-Thompson, J., Niu, Z., Tracy, J. A., Moore, S. A., Swenson, A., Wieben, E. D. & Milone, M., 2017, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

6 Scopus citations

Characterization of isolated amyloid myopathy

Liewluck, T. & Milone, M., Dec 1 2017, In : European Journal of Neurology. 24, 12, p. 1437-1445 9 p.

Research output: Contribution to journalArticle

14 Scopus citations

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

on behalf of the Mito Working Group Member Participants, May 1 2017, In : Journal of inherited metabolic disease. 40, 3, p. 403-414 12 p.

Research output: Contribution to journalArticle

5 Scopus citations

Hereditary myopathies with early respiratory insufficiency in adults

Naddaf, E. & Milone, M., 2017, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

8 Scopus citations

PRES leading to the diagnosis of McArdle disease

Martinez-Thompson, J., Pittock, S. J. & Milone, M., 2017, (Accepted/In press) In : Journal of Clinical Neuroscience.

Research output: Contribution to journalArticle

Rapsyn congenital myasthenic syndrome worsened by fluoxetine

Visser, A. C., Laughlin, R. S., Litchy, W. J., Benarroch, E. E. & Milone, M., Jan 1 2017, In : Muscle and Nerve. 55, 1, p. 131-135 5 p.

Research output: Contribution to journalArticle

5 Scopus citations

Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant

Anandan, C., Cipriani, M. A., Laughlin, R. S., Niu, Z. & Milone, M., Jan 1 2017, (Accepted/In press) In : European Journal of Neurology.

Research output: Contribution to journalArticle

3 Scopus citations

RYR1 causing distal myopathy

Laughlin, R. S., Niu, Z., Wieben, E. D. & Milone, M., Jan 1 2017, In : Molecular Genetics and Genomic Medicine. 5, 6, p. 800-804 5 p.

Research output: Contribution to journalArticle

6 Scopus citations

Triple Furrowed Atrophic Tongue of Myasthenia Gravis

Young, N. P., Sorenson, E. J., Milone, M. & Harper, C. M., Sep 1 2017, In : Journal of Clinical Neuromuscular Disease. 19, 1, p. 47-48 2 p.

Research output: Contribution to journalArticle

2016

Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations

Liewluck, T., Milone, M., Tian, X., Engel, A. G., Staff, N. P. & Wong, L. J., Jun 1 2016, In : Muscle and Nerve. 53, 6, p. 984-988 5 p.

Research output: Contribution to journalArticle

7 Scopus citations

Autosomal dominant distal myopathy due to a novel ACTA1 mutation

Liewluck, T., Sorenson, E. J., Walkiewicz, M. A., Rumilla, K. M. & Milone, M., Dec 12 2016, (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

9 Scopus citations
5 Scopus citations

Clinical spectrum of valosin containing protein (VCP)-opathy

Kazamel, M., Sorenson, E. J., McEvoy, K. M., Jones, L., Leep-Hunderfund, A. N., Mauermann, M. M. & Milone, M., Jul 1 2016, In : Muscle and Nerve. 54, 1, p. 94-99 6 p.

Research output: Contribution to journalArticle

9 Scopus citations

Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants

Brand, P., Dyck, P. J. B., Liu, J., Berini, S., Selcen, D. & Milone, M., Aug 1 2016, In : Neuromuscular Disorders. 26, 8, p. 511-515 5 p.

Research output: Contribution to journalArticle

8 Scopus citations

Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia

Engel, A. G., Selcen, D., Shen, X. M., Milone, M. & Harper, C. M., Jan 1 2016, In : Neurology: Genetics. 2, 5, e105.

Research output: Contribution to journalArticle

26 Scopus citations

Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating

Shen, X. M., Okuno, T., Milone, M., Otsuka, K., Takahashi, K., Komaki, H., Giles, E., Ohno, K. & Engel, A. G., Oct 1 2016, In : Human Mutation. 37, 10, p. 1051-1059 9 p.

Research output: Contribution to journalArticle

9 Scopus citations

Rhabdomyolysis featuring muscular dystrophies

Lahoria, R. & Milone, M., Feb 15 2016, In : Journal of the Neurological Sciences. 361, p. 29-33 5 p.

Research output: Contribution to journalArticle

13 Scopus citations

Signal recognition particle immunoglobulin g detected incidentally associates with autoimmune myopathy

Apiwattanakul, M., Milone, M., Pittock, S. J., Kryzer, T. J., Fryer, J. P., O'toole, O., McKeon, A. B. & Lennon, V. A., 2016, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

5 Scopus citations
2015

Camptocormia as presenting manifestation of a spectrum of myopathic disorders

Ghosh, P. S. & Milone, M., Dec 1 2015, In : Muscle and Nerve. 52, 6, p. 1008-1012 5 p.

Research output: Contribution to journalArticle

22 Scopus citations

Clinical and laboratory findings of 21 patients with radiation-induced myopathy

Ghosh, P. S. & Milone, M., Feb 1 2015, In : Journal of Neurology, Neurosurgery and Psychiatry. 86, 2, p. 152-158 7 p.

Research output: Contribution to journalArticle

18 Scopus citations

Clinical features and treatment outcomes of necrotizing autoimmune myopathy

Kassardjian, C. D., Lennon, V. A., Alfugham, N. B., Mahler, M. & Milone, M., Sep 1 2015, In : JAMA Neurology. 72, 9, p. 996-1003 8 p.

Research output: Contribution to journalArticle

71 Scopus citations

Clinical reasoning: A 51-year-old woman with weakness and stiff neck

Kassardjian, C. D. & Milone, M., Jul 28 2015, In : Neurology. 85, 4, p. e32-e36

Research output: Contribution to journalArticle

Paraneoplastic encephalopathy: An unusual presenting feature of bladder cancer metastasis

Thanarajasingam, G., Milone, M. & Kohli, M., May 4 2015, In : BMJ Case Reports. 2015, 208913.

Research output: Contribution to journalArticle

2 Scopus citations
2014

A novel VCP mutation underlies scapuloperoneal muscular dystrophy and dropped head syndrome featuring lobulated fibers

Liewluck, T., Milone, M., Mauermann, M. L., Castro-Couch, M., Cerhan, J. H. & Murthy, N. S., Aug 2014, In : Muscle and Nerve. 50, 2, p. 295-299 5 p.

Research output: Contribution to journalArticle

12 Scopus citations

Autoimmune aquaporin-4 myopathy in neuromyelitis optica spectrum

Guo, Y., Lennon, V. A., Bogdan, B. F., Grouse, C. K., Topel, J., Milone, M., Lassmann, H., Parisi, J. E., Pittock, S. J., Stefoski, D., Balabanov, R. & Lucchinetti, C. F., Aug 2014, In : JAMA neurology. 71, 8, p. 1025-1029 5 p.

Research output: Contribution to journalArticle

41 Scopus citations

DNAJB6 myopathy: A vacuolar myopathy with childhood onset

Suarez-Cedeno, G., Winder, T. & Milone, M., Apr 2014, In : Muscle and Nerve. 49, 4, p. 607-610 4 p.

Research output: Contribution to journalArticle

14 Scopus citations

LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner

Ohkawara, B., Cabrera-Serrano, M., Nakata, T., Milone, M., Asai, N., Ito, K., Ito, M., Masuda, A., Ito, Y., Engel, A. G. & Ohno, K., Apr 1 2014, In : Human molecular genetics. 23, 7, p. 1856-1868 13 p.

Research output: Contribution to journalArticle

62 Scopus citations