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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;98:126-131.

 


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.

 


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

 


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.

 


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

 


Sivakumar K, Sambuughin N, Selenge B, Nagle JW, Baasanjav D, Hudson LD, Goldfarb LG. Novel exon38 protealipid protein gene mutation causing late-onset spastic paraplegie tupe 2 with variable penetrance in female family members, Ann Neurol 1999, 45:680-3.

 


Dalakas MC, Park K, Semino-Mora C, Lee HS, Sivakumar K, Golffarb LG, Desmin myopathy: a distinct, dital-onset skeletal myopthy with cardiom yopathy caused by mutatuins in the desmin gene. N Engle J Med. 2000, 342:770-780.

 


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

 


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

 


Bien-Willner R, Sambughin 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.

 

 

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