Publications

  1. Kassardjian CD, Milone M. Coexistence of DMPK gene expansion and CLCN1 missense mutation in the same patient. Neurogenetics. 2014 Apr 05.
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  2. Suarez-Cedeno G, Winder T, Milone M. DNAJB6 myopathy: A vacuolar myopathy with childhood onset. Muscle Nerve. 2014 Apr; 49(4):607-10. Epub 2014 Feb 24.
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  3. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Mitochondrial Medicine Society Clinical Directors Working Group, MMS Clinical Director's Work Group, Anselm I, Collins A, Cohen BH, DeBrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropma Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014 Jan; 14(1):26-33. Epub 2013 Jul 26
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  4. Ohkawara B, Cabrera-Serrano M, Nakata T, Milone M, Asai N, Ito K, Ito M, Masuda A, Ito Y, Engel AG, Ohno K. LRP4 third beta-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner. Hum Mol Genet. 2014 Apr 1; 23(7):1856-68. Epub 2013 Nov 13.
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  5. Milone M, Klassen BT, Landsverk ML, Haas RH, Wong LJ. Orthostatic tremor, progressive external ophthalmoplegia, and Twinkle. JAMA Neurol. 2013 Nov; 70(11):1429-31.
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  6. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Mitochondrial Medicine Society Clinical Directors Working Group, Clinical Director's Work Group. Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management. Mitochondrion. 2013 Nov; 13(6):681-7. Epub 2013 Sep 21
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  7. Ma H, McEvoy KM, Milone M. Sporadic inclusion body myositis presenting with severe camptocormia. J Clin Neurosci. 2013 Nov; 20(11):1628-9. Epub 2013 Sep 19.
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  8. Milone M, Wong LJ. Diagnosis of mitochondrial myopathies. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):35-41. Epub 2013 Jul 17.
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  9. Selcen D, Shen XM, Milone M, Brengman J, Ohno K, Deymeer F, Finkel R, Rowin J, Engel AG. GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity. Neurology. 2013 Jul 23; 81(4):370-8. Epub 2013 Jun 21.
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  10. Lam EM, Shepard PW, St Louis EK, Dueffert LG, Slocumb N, McCarter SJ, Silber MH, Boeve BF, Olson EJ, Somers VK, Milone M. Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2. Neurology. 2013 Jul 9; 81(2):157-64. Epub 2013 Jun 07.
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  11. Liewluck T, Winder TL, Dimberg EL, Crum BA, Heppelmann CJ, Wang Y, Bergen HR 3rd, Milone M. ANO5-muscular dystrophy: clinical, pathological and molecular findings. Eur J Neurol. 2013 Oct; 20(10):1383-9. Epub 2013 May 12.
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  12. Cui H, Li F, Chen D, Wang G, Truong CK, Enns GM, Graham B, Milone M, Landsverk ML, Wang J, Zhang W, Wong LJ. Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders. Genet Med. 2013 May; 15(5):388-94. Epub 2013 Jan 3.
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  13. Hassan A, Jones LK Jr, Milone M, Kumar N. Focal and other unusual presentations of facioscapulohumeral muscular dystrophy. Muscle Nerve. 2012 Sep; 46(3):421-5.
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  14. Massie R, Wang J, Chen LC, Zhang VW, Collins MP, Wong LJ, Milone M. Mitochondrial myopathy due to novel missense mutation in the cytochrome c oxidase 1 gene. J Neurol Sci. 2012 Aug 15; 319(1-2):158-63. Epub 2012 May 24.
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  15. Milone M, McEvoy KM, Sorenson EJ, Daube JR. Myotonia associated with caveolin-3 mutation. Muscle Nerve. 2012 Jun; 45(6):897-900.
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  16. Milone M, Benarroch EE. Mitochondrial dynamics: general concepts and clinical implications. Neurology. 2012 May 15; 78(20):1612-9.
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  17. Liewluck T, Goodman BP, Milone M. Electrically active immune-mediated rippling muscle disease preceding breast cancer. Neurologist. 2012 May; 18(3):155-8.
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  18. Milone M, Benarroch EE, Wong LJ. POLG-related disorders: defects of the nuclear and mitochondrial genome interaction. Neurology. 2011 Nov 15; 77(20):1847-52.
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  19. Jaffe AS, Vasile VC, Milone M, Saenger AK, Olson KN, Apple FS. Diseased skeletal muscle: a noncardiac source of increased circulating concentrations of cardiac troponin T. J Am Coll Cardiol. 2011 Oct 18; 58(17):1819-24. Epub 2011 Sep 29.
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  20. Tang S, Dimberg EL, Milone M, Wong LJ. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. J Neurol. 2012 May; 259(5):862-8. Epub 2011 Oct 13.
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  21. Tang S, Wang J, Lee NC, Milone M, Halberg MC, Schmitt ES, Craigen WJ, Zhang W, Wong LJ. Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. J Med Genet. 2011 Oct; 48(10):669-81. Epub 2011 Aug 31.
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  22. Milone M, Liewluck T, Winder TL, Pianosi PT. Amyloidosis and exercise intolerance in ANO5 muscular dystrophy. Neuromuscul Disord. 2012 Jan; 22(1):13-5. Epub 2011 Aug 04.
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  23. Milone M, Wang J, Liewluck T, Chen LC, Leavitt JA, Wong LJ. Novel POLG splice site mutation and optic atrophy. Arch Neurol. 2011 Jun; 68(6):806-11.
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  24. Kumar N, Eggers SD, Milone M, Keegan BM. Acquired progressive ataxia and palatal tremor: importance of MRI evidence of hemosiderin deposition and vascular malformations. Parkinsonism Relat Disord. 2011 Aug; 17(7):565-8. Epub 2011 May 24.
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  25. Liewluck T, Shen XM, Milone M, Engel AG. Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia. Neuromuscul Disord. 2011 Jun; 21(6):387-95. Epub 2011 Apr 08.
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  26. Massie R, Wong LJ, Milone M. Exercise intolerance due to cytochrome b mutation. Muscle Nerve. 2010 Jul; 42(1):136-40.
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  27. Young NP, Daube JR, Sorenson EJ, Milone M. Absent, unrecognized, and minimal myotonic discharges in myotonic dystrophy type 2. Muscle Nerve. 2010 Jun; 41(6):758-62.
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  28. Milone M, Massie R. Polymerase gamma 1 mutations: clinical correlations. Neurologist. 2010 Mar; 16(2):84-91.
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  29. Milone M, Katz A, Amato AA, Soderland CA, Segarceanu M, Young NP, Jones HR. Sporadic late onset nemaline myopathy responsive to IVIg and immunotherapy. Muscle Nerve. 2010 Feb; 41(2):272-6.
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  30. Weingarten TN, Hofer RE, Milone M, Sprung J. Anesthesia and myotonic dystrophy type 2: a case series. Can J Anaesth. 2010 Mar; 57(3):248-55. Epub 2010 Jan 15.
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  31. Milone M, Shen XM, Selcen D, Ohno K, Brengman J, Iannaccone ST, Harper CM, Engel AG. Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. Neurology. 2009 Jul 21; 73(3):228-35.
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  32. Dimauro S, Milone M, Keegan BM. A 41-year-old woman with progressive leg weakness and numbness, dizziness, and myalgia. Neurology. 2009 Apr 7; 72(14):1262-8.
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  33. Milone M, Younge BR, Wang J, Zhang S, Wong LJ. Mitochondrial disorder with OPA1 mutation lacking optic atrophy. Mitochondrion. 2009 Jul; 9(4):279-81. Epub 2009 Mar 20.
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  34. Milone M, Batish SD, Daube JR. Myotonic dystrophy type 2 with focal asymmetric muscle weakness and no electrical myotonia. Muscle Nerve. 2009 Mar; 39(3):383-5.
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  35. Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat. 2008 Sep; 29(9):E150-72.
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  36. Selcen D, Milone M, Shen XM, Harper CM, Stans AA, Wieben ED, Engel AG. Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. Ann Neurol. 2008 Jul; 64(1):71-87.
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  37. Milone M, Brunetti-Pierri N, Tang LY, Kumar N, Mezei MM, Josephs K, Powell S, Simpson E, Wong LJ. Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. Neuromuscul Disord. 2008 Aug; 18(8):626-32. Epub 2008 Jun 27.
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  38. Galvin JE, Palamand D, Strider J, Milone M, Pestronk A. The muscle protein dysferlin accumulates in the Alzheimer brain. Acta Neuropathol. 2006 Dec; 112(6):665-71. Epub 2006 Oct 06.
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  39. Milone M, Fukuda T, Shen XM, Tsujino A, Brengman J, Engel AG. Novel congenital myasthenic syndromes associated with defects in quantal release. Neurology. 2006 Apr 25; 66(8):1223-9. Epub 2006 Mar 08.
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  40. Ohno K, Tsujino A, Shen XM, Milone M, Engel AG. Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries - art. no. e53. J Med Genet. 2005 Aug; 42(8):E53.
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  41. Ohno K, Milone M, Shen XM, Engel AG. A frameshifting mutation in CHRNE unmasks skipping of the preceding exon. Hum Mol Genet. 2003 Dec 1; 12(23):3055-66. Epub 2003 Oct 07.
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  42. Ohno K, Engel AG, Shen XM, Selcen D, Brengman J, Harper CM, Tsujino A, Milone M. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet. 2002 Apr; 70(4):875-85. Epub 2002 Jan 14.
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  43. Wang HL, Ohno K, Milone M, Brengman JM, Evoli A, Batocchi AP, Middleton LT, Christodoulou K, Engel AG, Sine SM. Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. J Gen Physiol. 2000 Sep; 116(3):449-62.
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  44. Ohno K, Engel AG, Brengman JM, Shen XM, Heidenreich F, Vincent A, Milone M, Tan E, Demirci M, Walsh P, Nakano S, Akiguchi I. The spectrum of mutations causing end-plate acetylcholinesterase deficiency. Ann Neurol. 2000 Feb; 47(2):162-70.
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  45. Engel AG, Ohno K, Shen XM, Milone M, Tsujino A. Congenital myasthenic syndromes in the molecular era. Acta Myologica. 2000; 19(Apr):5-21.
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  46. Quiram PA, Ohno K, Milone M, Patterson MC, Pruitt NJ, Brengman JM, Sine SM, Engel AG. Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly. J Clin Invest. 1999 Nov; 104(10):1403-10.
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  47. Middleton L, Ohno K, Christodoulou K, Brengman J, Milone M, Neocleous V, Serdaroglu P, Deymeer F, Ozdemir C, Mubaidin A, Horany K, Al-Shehab A, Mavromatis I, Mylonas I, Tsingis M, Zamba E, Pantzaris M, Kyriallis K, Engel AG. Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene. Neurology. 1999 Sep 22; 53(5):1076-82.
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  48. Wang HL, Milone M, Ohno K, Shen XM, Tsujino A, Batocchi AP, Tonali P, Brengman J, Engel AG, Sine SM. Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating. Nat Neurosci. 1999 Mar; 2(3):226-33.
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  49. Milone M, Ohno K, Fukudome T, Shen XM, Brengman J, Griggs RC, Engel AG. Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit gene. Ann N Y Acad Sci. 1998 May 13; 841:184-8.
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  50. Engel AG, Ohno K, Milone M, Sine SM. Congenital myasthenic syndromes. New insights from molecular genetic and patch-clamp studies. Ann N Y Acad Sci. 1998 May 13; 841:140-56.
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  51. Milone M, Wang HL, Ohno K, Prince R, Fukudome T, Shen XM, Brengman JM, Griggs RC, Sine SM, Engel AG. Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit. Neuron. 1998 Mar; 20(3):575-88.
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  52. Engel AG, Ohno K, Wang HL, Milone M, Sine SM. Molecular basis of congenital myasthenic syndromes: mutations in the acetylcholine receptor. Neuroscientist. 1998; 4(3):185-94.
  53. Milone M, Wang HL, Ohno K, Fukudome T, Pruitt JN, Bren N, Sine SM, Engel AG. 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. J Neurosci. 1997 Aug 1; 17(15):5651-65.
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  54. Ohno K, Quiram PA, Milone M, Wang HL, Harper MC, Pruitt JN 2nd, Brengman JM, Pao L, Fischbeck KH, Crawford TO, Sine SM, Engel AG. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. Hum Mol Genet. 1997 May; 6(5):753-66.
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  55. Engel AG, Ohno K, Milone M, Sine SM. Congenital myasthenic syndromes caused by mutations in acetylcholine receptor genes. Neurology. 1997; 48(4 Suppl 5):S28-35.
  56. Milone M, Engel AG. Block of the endplate acetylcholine receptor channel by the sympathomimetic agents ephedrine, pseudoephedrine, and albuterol. Brain Res. 1996 Nov 18; 740(1-2):346-52.
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  57. Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN 2nd, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet. 1996 Sep; 5(9):1217-27.
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  58. Ohno K, Wang HL, Milone M, Bren N, Brengman JM, Nakano S, Quiram P, Pruitt JN, Sine SM, Engel AG. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. Neuron. 1996 Jul; 17(1):157-70.
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  59. Sieb JP, Milone M, Engel AG. Effects of the quinoline derivatives quinine, quinidine, and chloroquine on neuromuscular transmission. Brain Res. 1996 Mar 18; 712(2):179-89.
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  60. Lo Monaco M, Milone M, Valente EM, Padua L, Tonali P. Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis. Muscle & Nerve. 1996; 19:1523-9.
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  61. Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN, Engel AG. Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron. 1995 Jul; 15(1):229-39.
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  62. Ohno K, Hutchinson DO, Milone M, Brengman JM, Bouzat C, Sine SM, Engel AG. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. Proc Natl Acad Sci U S A. 1995 Jan 31; 92(3):758-62.
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  63. Sabatelli M, Mignogna T, Lippi G, Milone M, Di Lazzaro V, Tonali P, Bertini E. Interferon-a may benefit steroid unresponsive chronic inflammatory demyelinating polyneuropathy. J Neurol Neurosurg Psychiatry. 1995; 58:638-9.
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  64. Milone M, Hutchinson DO, Engel AG. Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate. Muscle & Nerve. 1994 Dec; 17(12):1364-9.
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  65. Lo Monaco M, Milone M, Batocchi AP, Padua L, Restuccia D, Tonali P. Cisplatin neuropathy: clinical course and neurophysiological findings. J Neurol. 1992; 239:199-204.
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  66. Albanese A, Daniele A, Lo Monaco M, Di Lazzaro V, Restuccia D, Milone M, Tonali P. Postural axial tremor in a patient with cerebellar atrophy. Movement Disorders. 1992; 7(3):273-88.
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  67. Pelosi G, Perilli V, Sollazzi L, Dardoni PL, Lo Monaco M, Milone M, Evoli A, Restuccia D. Lambert-Eaton Myasthenic syndrome: a clinical contribution. Acta Anaesth Belg. 1991; 42:41-4.
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  68. Di Lazzaro V, Restuccia D, Lo Monaco M, Milone M, Tonali P. Somatosensory evoked potentials in a case of neurosyphilis. Ital J Neurol Sci. 1990 Jun; 11(3):309-12.
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