M Milone

Summary

Affiliation: Mayo Clinic
Country: USA

Publications

  1. doi Myotonia associated with caveolin-3 mutation
    Margherita Milone
    Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA
    Muscle Nerve 45:897-900. 2012
  2. doi Amyloidosis and exercise intolerance in ANO5 muscular dystrophy
    Margherita Milone
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Neuromuscul Disord 22:13-5. 2012
  3. doi Novel POLG splice site mutation and optic atrophy
    Margherita Milone
    Department of Neurology, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA
    Arch Neurol 68:806-11. 2011
  4. doi Polymerase gamma 1 mutations: clinical correlations
    Margherita Milone
    Department of Neurology, Mayo Clinic, Rochester, MN 55902, USA
    Neurologist 16:84-91. 2010
  5. pmc Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients
    M Milone
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 73:228-35. 2009
  6. doi Mitochondrial disorder with OPA1 mutation lacking optic atrophy
    Margherita Milone
    Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester MN, 55905, USA
    Mitochondrion 9:279-81. 2009
  7. doi Myotonic dystrophy type 2 with focal asymmetric muscle weakness and no electrical myotonia
    Margherita Milone
    Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA
    Muscle Nerve 39:383-5. 2009
  8. ncbi New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome
    A G Engel
    Department of Neurology, Mayo Clinic and Foundation, Rochester, MN 55905, USA
    Hum Mol Genet 5:1217-27. 1996
  9. pmc Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome
    H L Wang
    Receptor Biology Laboratory, Department of Physiology and Biophysics, Mayo Foundation, Rochester, Minnesota 55905, USA
    J Gen Physiol 116:449-62. 2000
  10. pmc Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly
    P A Quiram
    Receptor Biology Laboratory, Department of Physiology and Biophysics, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Clin Invest 104:1403-10. 1999

Collaborators

Detail Information

Publications19

  1. doi Myotonia associated with caveolin-3 mutation
    Margherita Milone
    Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA
    Muscle Nerve 45:897-900. 2012
    ..Mutations in the caveolin-3 gene (CAV3) lead to a spectrum of clinical phenotypes including limb-girdle muscular dystrophy 1C, distal myopathy, rippling muscle disease, isolated hyperCKemia, and cardiomyopathy...
  2. doi Amyloidosis and exercise intolerance in ANO5 muscular dystrophy
    Margherita Milone
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Neuromuscul Disord 22:13-5. 2012
    ..To our knowledge this is the first report of muscle amyloidosis in anoctamin 5 muscular dystrophy. This finding suggests that patients with amyloid in muscle should be screened for anoctamin 5 muscular dystrophy...
  3. doi Novel POLG splice site mutation and optic atrophy
    Margherita Milone
    Department of Neurology, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA
    Arch Neurol 68:806-11. 2011
    ..To investigate the molecular etiology of 2 unrelated patients with a multisystem mitochondrial disorder accompanied by optic atrophy in one of them...
  4. doi Polymerase gamma 1 mutations: clinical correlations
    Margherita Milone
    Department of Neurology, Mayo Clinic, Rochester, MN 55902, USA
    Neurologist 16:84-91. 2010
    ..Since then, it has emerged that POLG1 mutations can result in a spectrum of clinical manifestations, resulting in autosomal recessive or dominant mitochondrial diseases...
  5. pmc Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients
    M Milone
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 73:228-35. 2009
    ..Pathogenic mutations in rapsyn result in endplate acetylcholine receptor (AChR) deficiency and are a common cause of postsynaptic congenital myasthenic syndromes...
  6. doi Mitochondrial disorder with OPA1 mutation lacking optic atrophy
    Margherita Milone
    Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester MN, 55905, USA
    Mitochondrion 9:279-81. 2009
    ..This patient provides evidence that optic atrophy is not the main clinical manifestation of OPA1-related disorders. OPA1 analysis should be considered in mitochondrial disorders despite the lack of optic atrophy...
  7. doi Myotonic dystrophy type 2 with focal asymmetric muscle weakness and no electrical myotonia
    Margherita Milone
    Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA
    Muscle Nerve 39:383-5. 2009
    ..Muscle biopsy showed nonspecific myopathic features and highly atrophic fibers with nuclear clumps. DM2 should be considered in patients with focal proximal weakness and abnormal EMG without myotonic discharges...
  8. ncbi New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome
    A G Engel
    Department of Neurology, Mayo Clinic and Foundation, Rochester, MN 55905, USA
    Hum Mol Genet 5:1217-27. 1996
    ..The safety margin of neuromuscular transmission is compromised by AChR loss from the junctional folds and by a depolarization block owing to temporal summation of prolonged end plate potentials at physiologic rates of stimulation...
  9. pmc Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome
    H L Wang
    Receptor Biology Laboratory, Department of Physiology and Biophysics, Mayo Foundation, Rochester, Minnesota 55905, USA
    J Gen Physiol 116:449-62. 2000
    ..The findings further suggest that the fundamental gating mechanism of the AChR channel can be explained by a corrugated energy landscape superimposed on a steeply sloped energy well...
  10. pmc Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly
    P A Quiram
    Receptor Biology Laboratory, Department of Physiology and Biophysics, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Clin Invest 104:1403-10. 1999
    ..The findings imply that the mutated residues are positioned at the interface between beta and delta subunits and demonstrate contribution of this local region of the long cytoplasmic loop to AChR assembly...
  11. ncbi Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating
    H L Wang
    Department of Physiology and Biophysics, Mayo Foundation, Rochester, Minnesota 55905, USA
    Nat Neurosci 2:226-33. 1999
    ..Thus, we demonstrate a functional role for the M3 domain as a key component of the nicotinic acetylcholine receptor channel-gating mechanism...
  12. ncbi Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations
    K Ohno
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic and Foundation, Rochester, MN 55905, USA
    Hum Mol Genet 6:753-66. 1997
    ..The consequences of the endplate AChR deficiency are mitigated by persistent expression of gamma-AChR, changes in the release of transmitter quanta and appearance of multiple endplate regions on the muscle fiber...
  13. ncbi Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit
    M Milone
    Muscle Research Laboratory, Department of Neurology, Mayo Foundation, Rochester, Minnesota 55905, USA
    J Neurosci 17:5651-65. 1997
    ....
  14. ncbi Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit
    K Ohno
    Muscle Research Laboratory, Department of Neurology, Mayo Foundation, Rochester, Minnesota 55905, USA
    Neuron 17:157-70. 1996
    ..Studies of the engineered epsilon P121L AChR revealed a markedly decreased rate of channel opening, little change in affinity of the resting state for ACh, but reduced affinity of the open channel and desensitized states...
  15. ncbi Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity
    S M Sine
    Department of Physiology and Biophysics, Mayo Foundation, Rochester, Minnesota 55905, USA
    Neuron 15:229-39. 1995
    ..Thus, ACh binding affinity can dictate the time course of the synaptic response, and alpha G153 contributes to the low binding affinity for ACh needed to speed the decay of the synaptic response...
  16. ncbi The spectrum of mutations causing end-plate acetylcholinesterase deficiency
    K Ohno
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Ann Neurol 47:162-70. 2000
    ....
  17. ncbi Novel congenital myasthenic syndromes associated with defects in quantal release
    M Milone
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 66:1223-9. 2006
    ..Here, the authors describe clinical, electrophysiologic, and morphologic features of two novel and highly disabling CMSs, one determined by presynaptic and the other determined by combined presynaptic and postsynaptic defects...
  18. pmc Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries
    K Ohno
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    J Med Genet 42:e53. 2005
    ..Only three of the eight intronic splice site mutations of CHRNE reported to date have had their splicing consequences characterised...
  19. pmc Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit
    K Ohno
    Department of Neurology, Mayo Clinic and Foundation, Rochester, MN 55905
    Proc Natl Acad Sci U S A 92:758-62. 1995
    ..This observation raises the possibility that mutations involving subunits of other ligand-gated channels may also exist and be the basis of various other neurologic or psychiatric disorders...