K. Sivakumar

发表

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

K. Fischbeck, E. Green, J. Vance, 2003, American journal of human genetics.

Treatment of sporadic inclusion body myositis with bimagrumab

B. Tseng, S. Greenberg, J. Praestgaard, 2014, Neurology.

Is hereditary inclusion body myopathy a “Familial prion disease”?

J. Nagle, M. Dalakas, K. Sivakumar, 1996, Annals of neurology.

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

J. Nagle, M. Dalakas, S. Gorokhova, 1998, Nature Genetics.

Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene

N. Sambuughin, K. Sivakumar, A. de Bantel, 2003, Neurology.

Arterial thrombosis induced by IVIg and its treatment with tPA

D. Okuda, K. Sivakumar, M. Flaster, 2003, Neurology.

Coexistence of diabetes and phosphofructokinase deficiency.

M. Dalakas, L. Poretsky, K. Sivakumar, 1996, Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.

Symptomatic spinal epidural lipomatosis in a patient with Cushing's disease

K. Sivakumar, M. Lidov, K. Sheinart, 1995, Neurology.

Long-term safety and tolerability of bimagrumab (BYM338) in sporadic inclusion body myositis

B. Sloth, L. Tankó, A. Amato, 2020, Neurology.

GARS-Associated Axonal Neuropathy

K. Sivakumar, L. Goldfarb, 2011 .

Safety and efficacy of oral levosimendan in people with amyotrophic lateral sclerosis (the REFALS study): a randomised, double-blind, placebo-controlled phase 3 trial

Timothy A. Miller, Stephen A. Goutman, N. Staff, 2021, The Lancet Neurology.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

V. Narayanan, K. Sivakumar, S. G. Rice, 2011, Journal of child neurology.

Study of fatigue in muscles of patients with post-polio syndrome by in vivo [31P]magnetic resonance spectroscopy. A metabolic cause for fatigue.

M. Dalakas, A. McLaughlin, K. Sivakumar, 1995, Annals of the New York Academy of Sciences.

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

S. Nelson, S. Szelinger, D. Craig, 2020, Neurology: Genetics.

Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.

T. Nelson, N. Sambuughin, K. Sivakumar, 2001, American journal of human genetics.

Histopathologic Progression and a Novel Mutation in a Child With Nemaline Myopathy

S. Coons, N. Sambuughin, K. Sivakumar, 2008, Journal of child neurology.

Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations

J. Nagle, M. Dalakas, Kye-yoon Park, 2003, Neuromuscular Disorders.

Metabolic abnormalities in skeletal muscle of patients receiving zidovudine therapy observed by 31P in vivo magnetic resonance spectroscopy.

J. Frank, M. Dalakas, A. McLaughlin, 1995, The Journal of clinical investigation.

Gentamicin‐induced readthrough of stop codons in duchenne muscular dystrophy

J. Mendell, W. King, K. Flanigan, 2010, Annals of neurology.

HEREDITARY NEUROPATHY

L. Cui, K. Sivakumar, V. Narayanan, 2005 .

HLA allele distribution distinguishes sporadic inclusion body myositis from hereditary inclusion body myopathies

M. Dalakas, K. Sivakumar, Marinos C Dalakas, 1998, Journal of Neuroimmunology.

An inflammatory, familial, inclusion body myositis with autoimmune features and a phenotype identical to sporadic inclusion body myositis. Studies in three families.

M. Dalakas, K. Sivakumar, M C Dalakas, 1997, Brain : a journal of neurology.

The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews

M. Dalakas, K. Sivakumar, M C Dalakas, 1996, Neurology.

Strength gains without muscle injury after strength training in patients with postpolio muscular atrophy

M. Dalakas, B. Hurley, I. Feuerstein, 1996, Muscle & nerve.

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

M. Dalakas, N. Sambuughin, K. Sivakumar, 1998, Journal of the Neurological Sciences.

A controlled study of intravenous immunoglobulin combined with prednisone in the treatment of IBM

S. Spector, M. Dalakas, K. Sivakumar, 2001, Neurology.

Treatment of inclusion-body myositis with IVIg

J. Dambrosia, M. Dalakas, B. Sonies, 1997, Neurology.

Charcot-Marie-Tooth disease: extensive cranial nerve involvement on CT and MR imaging.

K. Sivakumar, R. Wallace, A. Pitt, 2004, AJNR. American journal of neuroradiology.

Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families

J. Jankovic, T. Nelson, G. Meissner, 2001, Neuromuscular Disorders.

Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis

D. Papanicolaou, V. S. Williams, L. Tankó, 2020, Neurology.

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 the USA

B. Tseng, F. Mastaglia, T. Lloyd, 2016, Journal of neuromuscular diseases.

Inclusion body myositis and myopathies

M. Dalakas, K. Sivakumar, M C Dalakas, 1997, Journal of the Neurological Sciences.

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

K. Fischbeck, E. Green, M. Dalakas, 2005, Brain : a journal of neurology.

Novel exon 3B proteolipid protein gene mutation causing late‐onset spastic paraplegia type 2 with variable penetrance in female family members

J. Nagle, L. Hudson, N. Sambuughin, 1999, Annals of neurology.

Novel mutation of the Spastin gene in familial spastic paraplegia

N. Sambuughin, K. Sivakumar, A. de Bantel, 2001, Clinical genetics.

The immunopathologic and inflammatory differences between dermatomyositis, polymyositis and sporadic inclusion body myositis

K. Sivakumar, Marines C. Dalakas, K. Sivakumar, 1996, Current opinion in neurology.

Childhood-Onset Spastic Paraplegia With NIPA1 Gene Mutation

J. Bodensteiner, N. Sambuughin, K. Sivakumar, 2006, Journal of child neurology.

Safety and efficacy of zilucoplan in patients with generalised myasthenia gravis (RAISE): a randomised, double-blind, placebo-controlled, phase 3 study

Adam L. Comer, Robert G. Miller, S. Demeret, 2023, The Lancet Neurology.

Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial

D. Papanicolaou, V. S. Williams, P. Bergh, 2019, The Lancet Neurology.

Autoimmune syndrome induced by omeprazole

M. Dalakas, K. Sivakumar, 1994, The Lancet.

Painful Brachial Plexopathies in SEPT9 Mutations: Adverse Outcome Related to Comorbid States

R. Kelley, K. Sivakumar, R. Hoque, 2008, Journal of Clinical Neuromuscular Disease.

Amifampridine phosphate (Firdapse®) is effective and safe in a phase 3 clinical trial in LEMS

B. Schoser, P. Shieh, S. Komoly, 2016, Muscle & nerve.

Lower extremity predominant stiff-person syndrome and limbic encephalitis with amphiphysin antibodies in breast cancer.

K. Sivakumar, S. Ladha, Kerry L Knievel, 2012, Journal of clinical neuromuscular disease.

Electrophysiologic and histologic studies in clinically unaffected muscles of patients with prior paralytic poliomyelitis

M. Dalakas, K. Sivakumar, S. Spector, 1996, Muscle & nerve.

Late‐onset muscle weakness in partial phosphofructokinase deficiency

M. Dalakas, K. Sivakumar, L. Goldfarb, 1996, Neurology.

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.

M. Dalakas, Kye-yoon Park, K. Sivakumar, 2000, The New England journal of medicine.

International consensus outcome measures for patients with idiopathic inflammatory myopathies. Development and initial validation of myositis activity and damage indices in patients with adult onset disease.

G. Serratrice, D. Isenberg, J. Callen, 2004, Rheumatology.

Cellular Localization of Poliovirus RNA in the Spinal Cord during Acute Paralytic Poliomyelitis

K. Pomeroy, D. Asher, K. Sivakumar, 1995, Annals of the New York Academy of Sciences.

Exons 16 and 17 of the amyloid precursor protein gene in familial inclusion body myopathy

J. Nagle, M. Dalakas, K. Sivakumar, 1995, Annals of neurology.

Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis: Long-Term Extension of RESILIENT.

D. Papanicolaou, V. S. Williams, L. Tankó, 2021, Neurology.

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).

K. Sivakumar, T. Mozaffar, E. Benjamin, 2023, Journal of neurology.

Meningioma with pneumosinus dilatans

J. Karis, K. Sivakumar, Anne Mai, 2003, Neurology.

Amifampridine phosphate (Firdapse®) is effective and safe in a phase 3 clinical trial in LEMS

B. Schoser, P. Shieh, S. Komoly, 2016, Muscle & nerve.