Publications

 

 

1. Sivakumar K, Dalakas MC. Autoimmune syndrome induced by omeprazole. Lancet 1994;344:619-20.

2. Isaacson SH, Sivakumar K, Pomeroy K, Asher DM, Ramos-Alvarez M, Gibbs CJ Jr. Gajdusek DC, Dalakas MC. Cellular localization of poliovirus in the spinal cord during acute poliomyelitis. Ann N Y Acad Sci 1995;753:194-198.

3. Sivakumar K, Sinnwell T, Yildiz, McLaughlin A, Dalakas MC. Study of Fatigue in muscles of patients with Post-Polio Syndrome by in vivo 31P Magnetic Resonance Spectroscopy: A metabolic cause for fatigue. Ann N Y Acad Sci 1995;753:397-402.

4. Luciano CA, Sivakumar K, Spector SA, Dalakas MC. Reinnervation in clinically unaffected muscles of patients with prior paralytic poliomyelitis: correlation between macro-EMG and histology. Ann N Y Acad Sci 1995;753:394-396.

5. Spector SA, Gordon PL, Yildiz E, Sivakumar K, Hurley BF, Dalakas MC. Methodological consideration in evaluating the effect of strength training in patients with post-polio syndrome. Ann N Y Acad Sci 1995;753:402-405.

6. Sivakumar K, Cervenkova L, Dalakas MC, Leon-Monzon M, Isaacson SI, Nagle JW, Vasconcelos O, Goldfarb LG. Exons 16 and 17 of the amyloid ß-precursor protein gene in familial inclusion body myopathy. Ann Neurol 1995;38:267-269.

7. Sinnwell TM, Sivakumar K, Soueidan S,  Jay C, Frank JA, McLaughlin AC, Dalakas MC. Abnormal energy  metabolism of muscle in AZT treated patients observed by  31P Magnetic Resonance Spectroscopy. J Clin Invest 1995;96:126-131.

8. Sivakumar K, Shienart C, Lidov M, Cohen B. Symptomatic epidural lipomatosis in a patient with pituitary Cushing's syndrome. Neurology 1995;45:2281-2283.

9. Sivakumar K, Vasconcelos O, Goldfarb LG,  Dalakas MC. Late-onset muscle weakness in partial phosphofructokinase deficiency: a unique myopathy with vacuoles, abnormal mitochondria and absence of the common exon 5/intron 5 junction point mutation. Neurology 1996;46:1337-1342.

10. Vasconcelos O, Sivakumar K, Dalakas MC, Quezado M, Nagle J, Monzon M, Dubnick M, Gajdusek CD, Goldfarb LG. Nonsense mutation in the phosphophructokinase muscle subunit gene associated with retention of intron 10 in one of isolated transcripts in Ashkenazi Jewish patients with Tarui disease. Proc Natl Acad Sci USA 1995;92:10322-10326.

11. Molinari SP, Sivakumar K, Corbin D, Yahr MD. Central neurocytoma: an unusual intraventricular tumor. Mt Sinai J Med 1995;62:436-438.

12. Poretsky L, Rubio SI, Naha KK, Sivakumar K, Dalakas MC. Co-existence of diabetes and phosphofructokinase deficiency. Endocrine Practice 1996;2:100-102.   

13. Spector SA, Gordon PL, Yildiz E, Sivakumar K, Hurley BF, Dalakas MC. Strength gains without muscle injury after strength training in patients with postpolio muscular atrophy. Muscle Nerve 1996.19:1282-1290.   

14. Sivakumar K, Dalakas MC. The spectrum of familial inclusion body myopathies in 13 families and description of a quadriceps sparing phenotype in non-Iranian Jews. Neurology 1996; 47:977-984.

15. Cervenkova L, Sivakumar K, Nagle JW, Dalakas MC, Goldfarb LG. Is hereditary inclusion body myopathy a "familial prion disease"? Ann Neurol 1996; 40:128.

16. Dalakas MC, Sivakumar K. The immunopathological and inflammatory differences between dermatomyositis, polymyositis and sporadic inclusion body myositis. Curr Opin Neurol Neurosurg 1996:9;235-239.
 
17. Luciano CA, Sivakumar K, Spector SA, Dalakas MC. Electrophysiologic studies and histologic studies in clinically unaffected muscles of patients with prior paralytic poliomyelitis. Muscle Nerve 1996;19:1413-1420

18. Dalakas MC, Sonies B, Dambrosia JM, Sekul EL, Cupler EJ, Sivakumar K: The efficacy of high-dose intravenous immunoglobulin in patients with inclusion body myositis. Neurology 1997, 48:712-716.

19. Sivakumar K, Semino-Mora C, Dalakas MC. An inflammatory inclusion body myositis with autoimmune features and a phenotype identical to sporadic inclusion body myositis: studies in 3 families. Brain 1997.120:653-661.

20. Spector SA, Sivakumar K. The post-polio syndrome: current concepts and treatment.  Infectious Diseases in Medicine 1997, 14:462-478

21. Sivakumar K, Vasconcelos O, Goldfarb LG,  Dalakas MC. Weakness and phosphofructokinase deficiency. Neurology 1997, 49:899.

22. Sivakumar K, Dalakas MC. Inclusion body myositis and myopathies. Curr Opin Neurol Neurosurg 1997, 10:413-420.

23. Koffman BM, Sivakumar K, Simonis T, Stroncek D, Dalakas MC.  HLA allele distribution distinguishes sporadic inclusion body myositis from hereditary inclusion body myopathies. J Neuroimmunol 1998, 84:139 142

24. Goldfarb LG, Park K, Cervenakova, Lee H, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC. Missense mutations in Desmin associated with familial cardiac and skeletal myopathy. Nature genetics 1998, 19:402-403.

25.Sambuughin N, Sivakumar K, Selenge B, Lee HS, Friedlich D, Baasanjav D, Dalakas MC, Goldfarb Autosomal dominant distal spinal muscular atrophy type V (dSMA V) and Charcot Marie Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15. J Neurol Sci 1998, 26;161:23 8.

26.    Sivakumar K, Sambuughin N, Selenge B, Nagle JW, Baasanjav D, Hudson LD, Goldfarb
LG.  Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members. Ann Neurol 1999, 45:680-3.

27. Dalakas MC, Park K, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG. Desmin myopathy: a distinct, distal-onset skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med. 2000, 342:770-780.

28. Dalakas MC, Koffman BD, Fujii M, Spector S, Sivakumar K, Cupler E. A controlled study of intravenous immunoglobulin combined with prednisone. Neurology 2001;56:323-327.

29. Sambuughin N, Nelson TE, Jankovic J, Xin C, Meissner G, Mullakandov M, Ji
J, Rosenberg H, Sivakumar K, Goldfarb LG. (2001). Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families. Neuromuscul Disord 2001 Sep;11(6-7):530-7

30. De Bantel A, McWilliams S, Auysh D, Echols C, Sambuughin N, Sivakumar K. Novel mutation of the spastin gene in Familial Spastic Paraplegia. Clin Genet. 2001; 59:364-365.

31. Sambuughin N, McWilliams S, de Bantel A, Sivakumar K, Nelson TE. Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. Am J Hum Genet 2001;69:204-208.

32. Sambuughin N, De Bantel A, McWilliams S, Sivakumar K. Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene. Neurology 2003; 60:506-508.

33.  Dalakas MC, Dagvadorj A, Goudeau B, Park K, Takeda K, Simon-Casteras M, Vasconcelos O, Sambuughin N, Shatunov A, Nagle JW, Sivakumar K, Vicart P, Goldfarb LG . Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations. Neuromuscular Disorders 2003;13:252-258.

34. Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin S, Jordanova A,  Kremensky I, Funalot B, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Glycyl tRNA Synthetase Mutations are Responsible for Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V. American Journal of Human Genetic 2003;72(5):1293-9

35. Okuda D, Flaster M, Frey J, Sivakumar K. Arterial thrombosis induced by intravenous immunoglobulin and their therapy with t-PA. Neurology 2003; 60(11): 1825-6.

36. Mai A, Karis J, Sivakumar K. Meningioma with pneumosinus dilatans. Neurology  2003; 60(11): 1861.

37. Aho TR, Wallace RC, Pitt AM, Sivakumar K. Charcot-Marie-Tooth disease: extensive cranial nerve involvement on CT and MR imaging. Am J Neuroradiol. 2004;25(3):494-7.

38. Sivakumar K. Guillain-Barre Syndrome. IG news. 2004 April;2(1):1-5.

39. Sivakumar K, Narayanan V. Hereditary neuropathies. Current management in pediatric neurology. In: Maria B ed. Current Management in Child Neurology, 3rd ed. Hamilton On: BC Decker, 2005, pp  391-398.

40. Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Ellsworth RE, Sambuughin N, Christodoulou K, Beggs J, Papanicolaou E, Middleton LT, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG. Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. Brain 2005;128:2304-14.

42. Sivakumar K, Fife T. Autoimmune hearing loss in chronic inflammatory demyelinating polyneuropathy. Neurology 2005;65(10):1673-4.

43. Bien-Willner R, Sambuughin N, Holley H, Bodensteiner J, Sivakumar K. Childhood disease onset SPG6 family with a novel NIPA1 gene mutation. J child neurol  2006;21(11):974-977.

44. Kniss M, Sivakumar K. Solitary pyogenic abscess of the medulla oblongata: survival after aspiration and antibiotics. Neuology 2006;66(12):1836

45. Goldfarb LG, Sivakumar, K. Charcot-Marie-Tooth neuropathy Type 2D. GeneReviews 2006.

46. Sivakumar K, Narayanan V. Hereditary neuropathies. Current management in pediatric neurology. In: Maria B ed. Current Management in Child Neurology, 4rd ed. Hamilton On: BC Decker, 2007
   
47. Ladha S, Coons S, Johnsen S, Sambuughin N, McWilliams S, Sivakumar K. Histopathological progression and a novel mutation in a child with nemaline myopathy. J child neurol  2008 Jul;23(7):813-7.

48. Hoque R, Schwendimann RN, Kelley R, Bien-Willner R, Sivakumar K. Painful brachial plexopathies in  SEPT9 mutations: adverse outcome related to co-morbid states. J Clincial neuromuscular diseases 2008;9:379-384

49. Malik V, Rodino-Klapac LR, Viollet L, Wall C, King W, Al-Dahhak W, Lewis S, Shilling CJ, Kota J, Serrano-Munuera C, Hayes J, Mahan JD,  Campbell KJ, Banwell B, Dasouki M, Watts V, Sivakumar K, Bien-Willner R, Flanigan KM,  Sahenk Z,  Barohn RJ, Walker CM, Mendell JR. Gentamicin-induced readthrough of stop codons in Duchene muscular dystrophy  Ann Neurol. 2010;67(6):771-80.

50. Pioro EP, Brooks BR, Cummings J, Schiffer R, Thisted RA, Wynn D, Hepner A, Kaye R; Safety, Tolerability, and Efficacy Results Trial of AVP-923 in PBA Investigators. Dextromethorphan plus ultra low-dose quinidine reduces pseudobulbar affect.  Ann Neurol. 2010;68(5):693-702.

51.  Narayanan V, Rice SG, Olfers SS, Sivakumar K. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene. J Child Neurol. 2011;26(12):1585-9.

52. Krishna VR, Knievel K, Ladha S, Sivakumar K. Lower Extremity Predominant Stiff-Person Syndrome and Limbic Encephalitis With Amphiphysin Antibodies in Breast Cancer. J Clin Neuromuscul Dis. 2012:14(2):72-4.

53. Toro C, Olivé M, Dalakas M, Sivakumar K, Bilbao JM, Tyndel F, Vidal N, Farrero E, Sambuughin N, Goldfarb LG.  Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins. BMC Neurol. 2013;20:13-29.

55.  Amato AA,  Sivakumar K,  Goyal N, et al. Treatment of sporadic inclusion body myositis
with an antibody that inhibits type II activin receptors. Neurology. 2014;83(24):2239-46