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M. Milone · SciRah

Researcher profile · Semantic Scholar

M. Milone

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M. Milone — researcher profile on SciRah

h-index: 41
Works: 283
Citations: 6,730

Most-cited papers

Immune checkpoint inhibitor-associated myopathy: a clinicoseropathologically distinct myopathy
S. Shelly, J. Triplett, M. Pinto, M. Milone +3 more
2020Brain Communications100 citations Open access
Semantic Scholar
2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders.
W. Groh, Deepak Bhakta, G. Tomaselli, Ryan G. Aleong +34 more
2022Heart Rhythm67 citations Open access
Semantic Scholar
Transcriptomic profiling reveals distinct subsets of immune checkpoint inhibitor-induced myositis
I. Pinal-Fernández, Á. Quintana, J. Milisenda, M. Casal-Domínguez +26 more
2022Annals of the Rheumatic Diseases56 citations Open access
Semantic Scholar
Identification of Caveolae-Associated Protein 4 Autoantibodies as a Biomarker of Immune-Mediated Rippling Muscle Disease in Adults
D. Dubey, Grayson Beecher, M. Hammami, A. Knight +15 more
2022JAMA Neurology34 citations Open access
Semantic Scholar
Cardiac and Respiratory Complications of Necrotizing Autoimmune Myopathy.
J. Triplett, C. Kassardjian, T. Liewluck, A. Tahir +3 more
2020Mayo Clinic proceedings33 citations
Semantic Scholar
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy
Manisha Korb, A. Peck, L. Alfano, K. Berger +50 more
2022Orphanet Journal of Rare Diseases31 citations Open access
Semantic Scholar
A form of muscular dystrophy associated with pathogenic variants in JAG2.
S. Coppens, A. Barnard, S. Puusepp, S. Pajusalu +54 more
2021American Journal of Human Genetics31 citations Open access
Semantic Scholar
Guidelines for genetic testing of muscle and neuromuscular junction disorders
Stefan Nicolau, M. Milone, T. Liewluck
2021Muscle and Nerve28 citations
Semantic Scholar
Anti‐cN1A antibodies do not correlate with specific clinical, electromyographic, or pathological findings in sporadic inclusion body myositis
Pritikanta Paul, T. Liewluck, F. Ernste, J. Mandrekar +1 more
2020Muscle and Nerve28 citations
Semantic Scholar
Epidemiology and Natural History of Inclusion Body Myositis
S. Shelly, M. Mielke, J. Mandrekar, M. Milone +3 more
2021Neurology27 citations Open access
Semantic Scholar
Incidence and Prevalence of Immune-mediated Necrotizing Myopathy in Adults in Olmsted County, Minnesota
S. Shelly, M. Mielke, Pritikanta Paul, M. Milone +6 more
2022Muscle and Nerve25 citations Open access
Semantic Scholar
Multisystem proteinopathies (MSPs) and MSP‐like disorders: Clinical‐pathological‐molecular spectrum
Pitcha Chompoopong, Bjorn Oskarsson, N. Madigan, I. Mirman +3 more
2023Annals of Clinical and Translational Neurology23 citations Open access
Semantic Scholar
Improving accuracy of myasthenia gravis autoantibody testing by reflex algorithm
S. Shelly, Pritikanta Paul, Hong-Yan Bi, D. Dubey +12 more
2020Neurology23 citations
Semantic Scholar
LRP4-IgG service line testing in seronegative myasthenia gravis and controls.
C. Klein, Grayson Beecher, Christopher J Lamb, E. Naddaf +6 more
2022Journal of Neuroimmunology20 citations
Semantic Scholar
Immune‐mediated necrotizing myopathy: Unusual presentations of a treatable disease
Stefan Nicolau, M. Milone, J. Tracy, J. Mills +2 more
2021Muscle and Nerve20 citations
Semantic Scholar
GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders
Pitcha Chompoopong, M. Milone
2023Genes19 citations Open access
Semantic Scholar
Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD)
A. Ducharme-Smith, Stefan Nicolau, C. Chahal, K. Ducharme-Smith +10 more
2021Frontiers in Neurology18 citations Open access
Semantic Scholar
Accelerated Aging in LMNA Mutations Detected by Artificial Intelligence ECG-Derived Age.
S. Shelly, F. Lopez-Jimenez, Audry Chacin-Suarez, M. Cohen-Shelly +7 more
2023Mayo Clinic proceedings17 citations
Semantic Scholar
Cancer and immune-mediated necrotizing myopathy: A longitudinal referral case-controlled outcomes evaluation.
S. Shelly, Grayson Beecher, M. Milone, T. Liewluck +10 more
2022Rheumatology17 citations
Semantic Scholar
A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathy.
Stefan Nicolau, T. Liewluck, J. L. Elliott, A. Engel +1 more
2020Neuromuscular Disorders16 citations
Semantic Scholar
Symptomatic myopathies in sarcoidosis: disease spectrum and Myxovirus resistance protein A (MxA) expression.
Pitcha Chompoopong, M. Skolka, F. Ernste, M. Milone +1 more
2022Rheumatology15 citations
Semantic Scholar
Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype
N. Madigan, Michael J. Polzin, G. Cui, T. Liewluck +5 more
2021Acta Neuropathologica Communications15 citations Open access
Semantic Scholar
Diagnostic modelling and therapeutic monitoring of immune-mediated necrotizing myopathy: role of electrical myotonia
J. Triplett, S. Shelly, G. Livne, M. Milone +12 more
2020Brain Communications15 citations Open access
Semantic Scholar
Myopathies with finger flexor weakness: Not only inclusion‐body myositis
Stefan Nicolau, T. Liewluck, M. Milone
2020Muscle and Nerve15 citations
Semantic Scholar
Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies
Stefan Nicolau, Aneesha Dasgupta, S. Dasari, M. Charlesworth +4 more
2023Acta Neuropathologica Communications14 citations Open access
Semantic Scholar
Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy
Rebecca E. Schmitt, Douglas Y. Iv Smith, D. Cho, Lindsey A. Kirkeby +5 more
2021npj Regenerative Medicine14 citations Open access
Semantic Scholar
Myopathies featuring early or prominent dysphagia.
J. Triplett, Marcus V. Pinto, E. Hosfield, M. Milone +1 more
2020Muscle and Nerve14 citations
Semantic Scholar
A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission
Stefan Nicolau, T. Liewluck, Xin-Ming Shen, D. Selcen +2 more
2019Neuromuscular Disorders14 citations Open access
Semantic Scholar
Sporadic Late-Onset Nemaline Myopathy: Current Landscape
Stefan Nicolau, M. Milone
2023Current Neurology and Neuroscience Reports13 citations
Semantic Scholar
Clinical Utility of Striational Antibodies in Paraneoplastic and Myasthenia Gravis Paraneoplastic Panels
S. Shelly, J. Mills, D. Dubey, A. McKeon +7 more
2021Neurology12 citations
Semantic Scholar
Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease - Case series and review.
K. Demaegd, E. Brilstra, J. Hoogendijk, C. D. de Bie +6 more
2022Neuromuscular Disorders10 citations Open access
Semantic Scholar
The spectrum of rippling muscle disease
Hebatallah R. Rashed, M. Milone
2024Muscle and Nerve9 citations
Semantic Scholar
Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy
B. Roy, A. Peck, T. Evangelista, G. Pfeffer +16 more
2023Annals of Clinical and Translational Neurology9 citations Open access
Semantic Scholar
Compound Muscle Action Potential and Myosin-Loss Pathology in Patients With Critical Illness Myopathy
S. Shelly, P. Soontrapa, N. Madigan, Michael J. Polzin +10 more
2024Neurology8 citations
Semantic Scholar
Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations.
Alexander K. Sonne, L. Peverelli, A. Hernández-Laín, C. Domínguez +4 more
2023American Journal of Physiology - Cell Physiology8 citations Open access
Semantic Scholar
Electrocardiogram-Artificial Intelligence and Immune-Mediated Necrotizing Myopathy: Predicting Left Ventricular Dysfunction and Clinical Outcomes
C. Klein, I. Ozcan, Z. Attia, M. Cohen-Shelly +6 more
2022Mayo Clinic Proceedings: Innovations, Quality & Outcomes8 citations Open access
Semantic Scholar
Exposure to sertraline and ranolazine is common among adult patients with genetically uncharacterized lipid storage myopathy.
Felipe J S Jones, I. Mirman, M. Milone, T. Liewluck
2025Journal of Neurological Sciences7 citations
Semantic Scholar
The utility of electrodiagnostic testing in unprovoked rhabdomyolysis in the era of next‐generation sequencing
Michael P. Skolka, M. Milone, W. Litchy, R. Laughlin +2 more
2024Muscle and Nerve7 citations
Semantic Scholar
A novel missense HNRNPA1 variant in the PY-NLS domain in a patient with late-onset distal myopathy.
Pitcha Chompoopong, M. Milone, Z. Niu, G. Cui +2 more
2022Neuromuscular Disorders6 citations
Semantic Scholar
A form of muscular dystrophy associated with pathogenic variants in JAG2.
S. Coppens, A. Barnard, S. Puusepp, S. Pajusalu +54 more
2021American Journal of Human Genetics6 citations Open access
Semantic Scholar
Immune-Mediated Megaconial Myopathy: A Novel Subtype of Autoimmune Myopathy.
Ashley R. Santilli, Oliver Ni, M. Milone, D. Selcen +9 more
2024Neurology5 citations
Semantic Scholar
Inherited myopathy plus: Double-trouble from rare neuromuscular disorders.
A. Granger, Grayson Beecher, T. Liewluck, Stefan Nicolau +3 more
2022Neuromuscular Disorders5 citations
Semantic Scholar
GYG1: A distal myopathy with polyglucosan bodies
Stefan Nicolau, J. Tracy, D. Pisapia, K. Tanji +1 more
2020JIMD Reports4 citations Open access
Semantic Scholar
Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy.
M. Kazamel, M. Milone
2019Journal of clinical neuroscience4 citations
Semantic Scholar
A Pattern Recognition Approach to Myopathy.
M. Milone
2025Continuum3 citations
Semantic Scholar
Adult-Onset Sandhoff Disease in a Filipino Patient: Asymmetric Weakness, Whole HEXB Gene Deletion, and Coexisting MYH7 Pathogenic Variant
Grayson Beecher, T. Liewluck, M. Milone
2022Neurology: Genetics3 citations Open access
Semantic Scholar
Interstitial amyloidosis in sporadic inclusion body myositis
Mazen Alamr, M. Milone, E. Naddaf, S. Ytterberg +3 more
2021Muscle and Nerve3 citations
Semantic Scholar
Very-Late Onset Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Associated With Sertraline Use: A Case Report.
A. Valerius, T. Wannarong, Sofia Rael, Camilo Bermudez +5 more
2025Journal of Clinical Neuromuscular Disease2 citations
Semantic Scholar
High‐Throughput Immunoassays for Cavin‐4 IgG: A Diagnostic Tool for Immune‐Mediated Rippling Muscle Disease
Reghann Lafrance-Corey, Haidara Kherbek, Nimalan Harinesan, M. Milone +10 more
2025Annals of Clinical and Translational Neurology2 citations Open access
Semantic Scholar
Unraveling calcium dysregulation and autoimmunity in immune mediated rippling muscle disease
S. Nath, A. Dasgupta, Divyanshu Dubey, E. Kokesh +7 more
2025Acta Neuropathologica Communications2 citations Open access
Semantic Scholar

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