KumaraswamySivakumarMD

PubMed

• 2 citations
  Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02).
  Barry J Byrne, Benedikt Schoser, Priya S Kishnani, Drago Bratkovic, Paula R Clemens, Ozlem Goker-Alpan, Xue Ming, Mark Roberts, Matthias Vorgerd, Kumaraswamy Sivakumar...> ;Journal of Neurology. 2024 Apr 1
• 20 citations
  Safety and efficacy of zilucoplan in patients with generalised myasthenia gravis (RAISE): a randomised, double-blind, placebo-controlled, phase 3 study.
  Liow, K. K., Howard, J., Bresch, S., Genge, A., Hewamadduma, C., Hinton, J., Hussain, Y., Juntas-Morales, R., Kaminski, H., Maniaol, A., Mantegazza, R., Masuda, M., Si...> ;The Lancet. Neurology. 2023 May 1
• 8 citations
  Safety and efficacy of oral levosimendan in people with amyotrophic lateral sclerosis (the REFALS study): a randomised, double-blind, placebo-controlled phase 3 trial.
  Merit Cudkowicz, Angela Genge, Nicholas J. Maragakis, Susanne Petri, Leonard H. van den Berg, Valtteri V Aho, Toni Sarapohja, Mikko Kuoppamäki, Chris Garratt, Ammar Al...> ;The Lancet. Neurology. 2021 Oct 1
• 18 citations
  Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis: Long-term Extension of RESILIENT
  Anthony A. Amato, Michael G. Hanna, Pedro Machado, Umesh A. Badrising, Hector Chinoy, Olivier Benveniste, Ananda Krishna Karanam, Min Wu, Laszlo Tanko, Agnes Annette S...> ;Neurology. 2021 Mar 23
• 5 citations
  Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1.
  Szabolcs Szelinger, Jonida Krate, Keri Ramsey, Samuel P. Strom, Perry B. Shieh, Hane Lee, Newell Belnap, Chris Balak, Ashley L. Siniard, Megan Russell, Ryan Richholt, ...> ;Neurology. Genetics. 2020 Jun 30
• 72 citations
  Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial
  Michael G. Hanna, Umesh A. Badrising, Olivier Benveniste, Thomas E. Lloyd, Merrilee Needham, Hector Chinoy, Masashi Aoki, Pedro Machado, Christina Liang, Katrina Reard...> ;The Lancet. Neurology. 2019 Sep 1
• 33 citations
  Amifampridine phosphate (Firdapse(®)) is effective and safe in a phase 3 clinical trial in LEMS.
  Shin J. Oh, Natalya Shcherbakova, Anna Kostera-Pruszczyk, Mohammad Alsharabati, Mazen M. Dimachkie, Jose Munoz Blanco, Thomas H. Brannagan, Dragana Lavrnic, Perry B. S...> ;Muscle & Nerve. 2016 May 1
• 36 citations
  Mortality and Causes of Death in Patients with Sporadic Inclusion Body Myositis: Survey Study Based on the Clinical Experience of Specialists in Australia, Europe and ...
  Mark Price, Victoria Barghout, Olivier Benveniste, Lisa Christopher-Stine, Alastair Corbett, Marianne de Visser, David Hilton-Jones, John T. Kissel, Thomas E. Lloyd, I...> ;Journal of Neuromuscular Diseases. 2016 Mar 3
• 138 citations
  Treatment of sporadic inclusion body myositis with bimagrumab
  Anthony A. Amato, Kumaraswamy Sivakumar, Namita Goyal, William S. David, Mohammad Salajegheh, Jens Praestgaard, Estelle Lach-Trifilieff, Anne-Ulrike Trendelenburg, Did...> ;Neurology. 2014 Dec 9
• 7 citations
  Lower extremity predominant stiff-person syndrome and limbic encephalitis with amphiphysin antibodies in breast cancer.
  Vivek R. Krishna, Kerry Knievel, Shafeeq Ladha, Kumaraswamy Sivakumar> ;Journal of Clinical Neuromuscular Disease. 2012 Dec 1
• 25 citations
  Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Compound Heterozygotes for Nonsense Mutations of the SACS Gene
  Vinodh Narayanan, Stephen G. Rice, Shannon S. Olfers, Kumaraswamy Sivakumar> ;Journal of Child Neurology. 2011 Jul 10
• 206 citations
  Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy.
  Vinod Malik, Louise R. Rodino-Klapac, Laurence Viollet, Cheryl Wall, Wendy King, Roula al-Dahhak, Sarah Lewis, Christopher Shilling, Janaiah Kota, Carmen Serrano-Munue...> ;Annals of Neurology. 2010 Jun 1
• 6 citations
  Histopathologic progression and a novel mutation in a child with nemaline myopathy.
  Shafeeq Ladha, Stephen W. Coons, Stanley D. Johnsen, Nyamkhishig Sambuughin, Ricardo Bien-Wilner, Kumaraswamy Sivakumar> ;Journal of Child Neurology. 2008 Jul 1
• 6 citations
  Painful brachial plexopathies in SEPT9 mutations: adverse outcome related to comorbid states.
  Romy Hoque, Robert N Schwendimann, Roger E. Kelley, Ricardo Bien-Willner, Kumaraswamy Sivakumar> ;Journal of Clinical Neuromuscular Disease. 2008 Jun 1
• 15 citations
  Childhood-Onset Spastic Paraplegia With NIPA1 Gene Mutation
  Ricardo Bien-Willner, Nyamkhishig Sambuughin, Heather Holley, John B. Bodensteiner, Kumaraswamy Sivakumar> ;Journal of Child Neurology. 2006 Nov 1
• Solitary pyogenic abscess of the medulla oblongata: survival after aspiration and antibiotics.
  Kniss MS, Sivakumar K> ;Neurology. 2006-06-27
• Autoimmune hearing loss in chronic inflammatory demyelinating polyneuropathy.
  Sivakumar K, Fife TD> ;Neurology. 2005-11-22
• 99 citations
  Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
  Kumaraswamy Sivakumar, Theodoros Kyriakides, Imke Puls, Garth A. Nicholson, Benoît Funalot, Anthony Antonellis, Nyamkhishig Sambuughin, Kyproula Christodoulou, John L....> ;Brain. 2005 Oct 1
• 260 citations
  International consensus outcome measures for patients with idiopathic inflammatory myopathies. Development and initial validation of myositis activity and damage indic...
  David A. Isenberg, Elizabeth Allen, Vernon T. Farewell, M. Ehrenstein, Michael G. Hanna, I.E. Lundberg, C. Oddis, Clarissa Pilkington, P. H. Plotz, D. L. Scott, Jiri V...> ;Rheumatology. 2004 Jan 1
• 7 citations
  Meningioma with pneumosinus dilatans
  Anne Mai, John P. Karis, Kumaraswamy Sivakumar> ;Neurology. 2003 Jun 10
• 46 citations
  Arterial thrombosis induced by IVIg and its treatment with tPA
  Darin T. Okuda, Murray Flaster, James L. Frey, Kumaraswamy Sivakumar> ;Neurology. 2003 Jun 10
• 425 citations
  Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V
  Anthony Antonellis, Rachel E. Ellsworth, Nyamkhishig Sambuughin, Imke Puls, Annette Abel, Shih Queen Lee-Lin, Albena Jordanova, Ivo Kremensky, Kyproula Christodoulou, ...> ;American Journal of Human Genetics. 2003 May 1
• 51 citations
  Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations
  Marinos C. Dalakas, Ayush Dagvadorj, Bertrand Goudeau, Kye-Yoon Park, Kazuyo Takeda, Monique Simon-Casteras, Olavo M. Vasconcelos, Nyamkhishig Sambuughin, Aleksey Shat...> ;Neuromuscular Disorders. 2003 Mar 1
• 36 citations
  Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene
  Nyamkhishig Sambuughin, Astrid De Bantel, Shona McWilliams, Kumaraswamy Sivakumar> ;Neurology. 2003 Feb 11
• 9 citations
  Novel mutation of the Spastin gene in familial spastic paraplegia.
  Astrid De Bantel, Shona McWilliams, Davgadorj Auysh, Charles Echol, Nyamkhishig Sambuughin, Kumaraswamy Sivakumar> ;Clinical Genetics. 2002 Jan 12
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Journal Articles

• Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins  
  Toro C, Olive M, Dalakas M, Sivakumar K, Bilbao JM, Tyndel F, Vidal N, Farrero E, Sambuughin N, Goldfarb LG, BMC Neurol, 1/1/2013
• Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene  
  Narayanan V, Rice SG, Olfers SS, Sivakumar K, J Child Neurol, 1/1/2011
• Tolerability, and Efficacy Results Trial of AVP-923 in PBA Investigators Dextromethorphan plus ultra low-dose quinidine reduces pseudobulbar affect  
  Pioro EP, Brooks BR, Cummings J, Schiffer R, Thisted RA, Wynn D, Hepner A, Kaye R; Safety, Ann Neurol, 1/1/2010
• Histopathological progression and a novel mutation in a child with nemaline myopathy  
  Ladha S, Coons S, Johnsen S, Sambuughin N, McWilliams S, Sivakumar K, J child neurol, 7/1/2008
• Painful brachial plexopathies in SEPT9 mutations: adverse outcome related to co-morbid states  
  Hoque R, Schwendimann RN, Kelley R, Bien-Willner R, Sivakumar K, J Clincial neuromuscular diseases, 1/1/2008
• Solitary pyogenic abscess of the medulla oblongata: survival after aspiration and antibiotics  
  Kniss M, Sivakumar K, Neurology, 1/1/2006
• Autoimmune hearing loss in chronic inflammatory demyelinating polyneuropathy  
  Sivakumar K, Fife T, Neurology, 1/1/2005
• Guillain-Barre Syndrome  
  Sivakumar K, IG News, 4/1/2004
• Charcot-Marie-Tooth disease: extensive cranial nerve involvement on CT and MR imaging  
  Aho TR, Wallace RC, Pitt AM, Sivakumar K, Am J Neuroradiol, 1/1/2004
• A controlled study of intravenous immunoglobulin combined with prednisone  
  Dalakas MC, Koffman BD, Fujii M, Spector S, Sivakumar K, Cupler E, Neurology, 1/1/2001
• Desmin myopathy: a distinct, distal-onset skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene  
  Dalakas MC, Park K, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG, N Engl J Med, 1/1/2000
• Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members  
  Sivakumar K, Sambuughin N, Selenge B, Nagle JW, Baasanjav D, Hudson LD, Goldfarb LG, Ann Neurol, 1/1/1999
• HLA allele distribution distinguishes sporadic inclusion body myositis from hereditary inclusion body myopathies  
  Koffman BM, Sivakumar K, Simonis T, Stroncek D, Dalakas MC, J Neuroimmunol, 1/1/1998
• 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 ...  
  Sambuughin N, Sivakumar K, Selenge B, Lee HS, Friedlich D, Baasanjav D, Dalakas MC, Goldfarb, J Neurol Sci, 1/1/1998
• The efficacy of high-dose intravenous immunoglobulin in patients with inclusion body myositis  
  Dalakas MC, Sonies B, Dambrosia JM, Sekul EL, Cupler EJ, Sivakumar K, Neurology, 1/1/1997
• The post-polio syndrome: current concepts and treatment  
  Spector SA, Sivakumar K, Infectious Diseases in Medicine, 1/1/1997
• Late-onset muscle weakness in partial phosphofructokinase deficiency: a unique myopathy with vacuoles, abnormal mitochondria and absence of the common exon 5/intron 5 ...  
  Sivakumar K, Vasconcelos O, Goldfarb LG, Dalakas MC, Neurology, 1/1/1996
• Co-existence of diabetes and phosphofructokinase deficiency  
  Poretsky L, Rubio SI, Naha KK, Sivakumar K, Dalakas MC, Endocrine Practice, 1/1/1996
• Is hereditary inclusion body myopathy a "familial prion disease"?  
  Cervenkova L, Sivakumar K, Nagle JW, Dalakas MC, Goldfarb LG, Ann Neurol, 1/1/1996
• Cellular localization of poliovirus in the spinal cord during acute poliomyelitis  
  Isaacson SH, Sivakumar K, Pomeroy K, Asher DM, Ramos-Alvarez M, Gibbs CJ Jr. Gajdusek DC, Dalakas MC, Ann N Y Acad Sci, 1/1/1995
• Study of Fatigue in muscles of patients with Post-Polio Syndrome by in vivo 31P Magnetic Resonance Spectroscopy: A metabolic cause for fatigue  
  Sivakumar K, Sinnwell T, Yildiz, McLaughlin A, Dalakas MC, Ann N Y Acad Sci, 1/1/1995
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  Sivakumar K, Cervenkova L, Dalakas MC, Leon-Monzon M, Isaacson SI, Nagle JW, Vasconcelos O, Goldfarb LG, Ann Neurol, 1/1/1995
• Symptomatic epidural lipomatosis in a patient with pituitary Cushing's syndrome  
  Sivakumar K, Shienart C, Lidov M, Cohen B, Neurology, 1/1/1995
• Autoimmune syndrome induced by omeprazole  
  Sivakumar K, Dalakas MC, Lancet, 1/1/1994
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Abstracts/Posters

• Assessment of Mortality in Sporadic Inclusion Body Myositis: A Delphi Panel Technique
  Price M, Barghout V, Benveniste O, Christopher-Stine L, Corbett A, de Visser M, Hilton-Jones D, Kissel JT, Lloyd T, Lundberg I, Mastaglia F, Mozaffar T, Needham M, Sch..., American Academy of Neurology 66th Annual Meeting, 4/1/2014
• Progress in inflammatory myopathies
  Sivakumar K, Srilankan Association of Neurologist, 11/1/2013
• Treatment of sporadic Inclusion Body Myositis with an anti-activin receptor IIB antibody
  Amato A, Sivakumar K, Goyal N, David W, Barohn RJ, Salajegheh M, Laurent D, Praestgaard J, Trifilieff E, Trendelenburg A, Glass DJ, Roubenoff R, Tseng BS, Greenberg SA, MDA Conference, 1/1/2013
• A Novel Phase 2a Study Design to Investigate the Effect of AT2220 (duvoglustat HCl) on the Pharmacokinetics of Acid Alpha-Glucosidase in Subjects with Pompe Disease.
  Kishnani P., Tarnopolsky M., Sivakumar K., Byrne B., Goker-Alpan O., Guter K., Pervaiz M., Dasouki M., Levine T., Roberts M., Laforet P., Johnson F., Valenzano K., Loc..., World Muscle Society, 10/1/2012
• Some random thoughts on the neurology case conference series highlighted by patients with neuromuscular diseases
  Sivakumar K, The first neurology case conference, 7/1/2009
• CMT: the gene tests
  Sivakumar K, Expert’s lecture to local neurologists, The Phoenician, 3/1/2009
• Update in Neuromuscular diseases
  Sivakumar K, 34th Annual Barrow symposium, 3/1/2008
• Progress in ALS
  Sivakumar K, Grand Rounds – Neurology, University of Arizona College of Medicine, 11/1/2007
• Recent developments in neuromuscular diseases
  Sivakumar K, Grand rounds, Pediatric neurology St Joseph’s hospital Children’s center, 5/1/2007
• Shoulder and arm pain with gradual onset weakness
  Bodensteiner JB, Sivakumar K, Bien-Willner R, Journal of Clinical Neuromuscular Diseases, 1/1/2007
• A disorder with phenotypic features of both Charcot-Marie-Tooth disease type 2D (CMT-2D) and distal spinal muscular atrophy type V (dSMA-V) is associated with glycyl-t...
  LG Goldfarb, T Kyriakides, I Puls, GA Nicholson, B Funalot, A Antonellis, N Sambuughin, K Christodoulou, JL Beggs, E Zamba-Papanicolaou, V Ionasescu, MC Dalakas, ED Gr..., HUGO meeting, 5/1/2006
• Demyelinating neuropathies
  Sivakumar K, Grand rounds, Pediatric neurology St Joseph’s hospital Children’s center, 5/1/2005
• Disorders of the motor neuron
  Sivakumar K, Grand rounds, Pediatric neurology St Joseph’s hospital Children’s center, 11/1/2004
• Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene
  Sambuughin N, De Bantel A, McWilliams S, Sivakumar K, Sambuughin N, De Bantel A, McWilliams S, Sivakumar K and AAN annual meeting, 1/1/2003
• Desmin storage myopathies
  Sivakumar K, Grand rounds, Barrow Neurological Institute, 11/1/2002
• Progress report on molecular genetic research in neuromuscular diseases in Mongolia
  Sivakumar K, National Institutes of Health, 11/1/2002
• An update on Myopathies
  Sivakumar K, Annual neuroscience conference, Barrow Neurological Institute, 4/1/2002
• An update on neuromuscular junction disorders
  Sivakumar K, Annual neuroscience conference, Barrow Neurological Institute, 4/1/2002
• Comprehensive screening of the RYR1 gene by denaturing high-performance liquid chromatography
  McWilliams S, Nelson T , Cavender M, Goldfarb L, Sivakumar K, Sambuughin N, Am Soc Hum Genet, 1/1/2002
• An update on neuromuscular diseases
  Sivakumar K, Annual neuroscience conference, Barrow Neurological Institute, 4/1/2001
• An update in neuromuscular diseases
  Sivakumar K, Annual neuroscience conference, Barrow Neurological Institute, 4/1/2000
• Clinical Neurophysiology Workshop
  Sivakumar K, Annual neuroscience conference, Barrow Neurological Institute, 4/1/2000
• Inflammatory myopathies
  Sivakumar K, Annual neuroscience conference, Barrow Neurological Institute, 4/1/2000
• Malignant Hyperthermia Susceptibility (MHS) Family with new RYR1 mutation is likely linked to second MHS loci at 7q11-21
  Sambuughin N, Nelson T, Jankovic J, Sivakumar K and Goldfarb L, Malignant hyperthermia association meeting, 8/1/1999
• The nature of neurofilamentous accumulations in the so-called desmin storage myopathy
  Semino-Mora C, Sivakumar K, Goldfarb LG, Dalakas MC, Neurology and American Academy of Neurology Annual Sessions, 4/1/1999
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