Kishore R Kumar

Summary

Publications

  1. doi request reprint Transient changes on brain magnetic resonance imaging in a patient with sturge-weber syndrome presenting with hemiparesis
    Kishore R Kumar
    Royal Adelaide Hospital, Adelaide, South Australia, Australia
    Neurologist 15:351-4. 2009
  2. doi request reprint Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings
    Kishore R Kumar
    Department of Neurology, Royal North Shore Hospital, St Leonards, NSW 2065, Australia
    Neuromuscul Disord 20:330-4. 2010
  3. doi request reprint Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation--a neurophysiological study using excitability techniques
    Kishore R Kumar
    Department of Neurology and Clinical Neurophysiology, Royal North Shore Hospital, St Leonards, NSW 2065, Australia
    Clin Neurophysiol 123:1454-9. 2012
  4. doi request reprint Axonal excitability during ischemia in MELAS
    Karl Ng
    Department of Neurology and Clinical Neurophysiology, Royal North Shore Hospital, New South Wales, Australia
    Muscle Nerve 47:762-5. 2013
  5. doi request reprint Axonal hyperpolarization in inclusion-body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD)
    Kishore R Kumar
    Department of Neurology and Clinical Neurophysiology and Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, NSW, Australia
    Muscle Nerve 44:191-6. 2011
  6. ncbi request reprint Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia
    Kishore R Kumar
    Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and The University of Sydney, Pacific Hwy, St Leonards, Sydney, NSW, 2065, Australia
    J Neurol 260:2516-22. 2013
  7. doi request reprint A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease
    Kishore R Kumar
    Department of Neurology, Royal North Shore Hospital and University of Sydney, St Leonards, New South Wales 2065, Australia
    Muscle Nerve 41:412-5. 2010

Detail Information

Publications7

  1. doi request reprint Transient changes on brain magnetic resonance imaging in a patient with sturge-weber syndrome presenting with hemiparesis
    Kishore R Kumar
    Royal Adelaide Hospital, Adelaide, South Australia, Australia
    Neurologist 15:351-4. 2009
    ..Stroke-like episodes associated with Sturge-Weber Syndrome have previously been attributed to thrombosis within the leptomeningeal malformation causing infarction...
  2. doi request reprint Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings
    Kishore R Kumar
    Department of Neurology, Royal North Shore Hospital, St Leonards, NSW 2065, Australia
    Neuromuscul Disord 20:330-4. 2010
    ..Leu198Trp). Our findings broaden the phenotypic spectrum of IBMPFD and further emphasise the resemblance to amyotrophic lateral sclerosis in some cases...
  3. doi request reprint Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation--a neurophysiological study using excitability techniques
    Kishore R Kumar
    Department of Neurology and Clinical Neurophysiology, Royal North Shore Hospital, St Leonards, NSW 2065, Australia
    Clin Neurophysiol 123:1454-9. 2012
    ..To identify peripheral nerve abnormalities in hereditary spastic paraplegia (HSP) due to mutations in the spastin gene (spastic paraplegia 4, SPG4) using standard nerve conduction (NCS) and novel tests of axonal excitability...
  4. doi request reprint Axonal excitability during ischemia in MELAS
    Karl Ng
    Department of Neurology and Clinical Neurophysiology, Royal North Shore Hospital, New South Wales, Australia
    Muscle Nerve 47:762-5. 2013
    ..Axonal depolarization has been demonstrated in a crisis, but not in the resting state. We, therefore, stressed axons using ischemia to see if this would reveal abnormal responses, as occurs in diabetes mellitus...
  5. doi request reprint Axonal hyperpolarization in inclusion-body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD)
    Kishore R Kumar
    Department of Neurology and Clinical Neurophysiology and Kolling Institute of Medical Research, Royal North Shore Hospital, and University of Sydney, NSW, Australia
    Muscle Nerve 44:191-6. 2011
    ..Patients with this disorder may have neuropathic or myopathic features...
  6. ncbi request reprint Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia
    Kishore R Kumar
    Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and The University of Sydney, Pacific Hwy, St Leonards, Sydney, NSW, 2065, Australia
    J Neurol 260:2516-22. 2013
    ..Targeted NGS may be a useful method to screen for mutations in multiple genes associated with HSP. More studies are warranted to determine the optimal approach to achieve a genetic diagnosis in this condition...
  7. doi request reprint A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease
    Kishore R Kumar
    Department of Neurology, Royal North Shore Hospital and University of Sydney, St Leonards, New South Wales 2065, Australia
    Muscle Nerve 41:412-5. 2010
    ..We conclude that a novel chloride channel mutation (G1652A) has caused a mild form of autosomal-dominant myotonia congenita (Thomsen disease) in this family...