Search Results - "Carroll, Antonia S."
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Central neurodegeneration in Kennedy’s disease accompanies peripheral motor dysfunction
Published in Scientific reports (07-08-2024)“…Spinal and bulbar muscular atrophy (SBMA), or Kennedy’s disease (KD), is a rare hereditary neuromuscular disorder demonstrating commonalities with amyotrophic…”
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Nerve biopsy in acquired neuropathies
Published in Journal of the peripheral nervous system (01-11-2021)“…A diagnosis of neuropathy can typically be determined through clinical assessment and focused investigation. With technological advances, including significant…”
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3052 A case of MAT2A inhibitor associated demyelinating neuropathy: mechanistic understandings of drug toxicity
Published in BMJ neurology open (01-08-2024)“…MAT2A catalyzes the conversion of methionine to SAM which is a critical methyl donor for methylation pathways critical to cell differentiation and survival.1…”
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Current and future applications of ultrasound imaging in peripheral nerve disorders
Published in World journal of radiology (28-06-2020)“…Neuromuscular ultrasound (NMUS) is a rapidly evolving technique used in neuromuscular medicine to provide complimentary information to standard…”
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Differences in nerve excitability properties across upper limb sensory and motor axons
Published in Clinical neurophysiology (01-04-2022)“…•Ulnar and median motor axon excitability is similar; minor differences suggest increases in juxtaparanodal fast K+ conductance.•Modelling suggests that…”
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Axonal excitability as an early biomarker of nerve involvement in hereditary transthyretin amyloidosis
Published in Clinical neurophysiology (01-03-2024)“…•A continuum of motor and sensory axonal excitability changes are observed with disease progression in ATTRv-PN.•Axonal excitability findings are consistent…”
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Truncal sensory polyneuropathy in light-chain amyloidosis
Published in Practical neurology (01-04-2023)“…We describe a case of truncal sensory polyneuropathy in a patient with light-chain amyloidosis. We highlight the clinical signs and differential diagnoses…”
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Serum neurofilament light chain in hereditary transthyretin amyloidosis: validation in real-life practice
Published in Amyloid (01-06-2024)“…Neurofilament light chain (NfL) has emerged as a sensitive biomarker in hereditary transthyretin amyloid polyneuropathy (ATTRv-PN). We hypothesise that NfL can…”
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Current approaches to the diagnosis and management of amyloidosis
Published in Internal medicine journal (01-12-2022)“…Amyloidosis is a collection of diseases caused by the misfolding of proteins that aggregate into insoluble amyloid fibrils and deposit in tissues. While these…”
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Acute unilateral peripheral vestibulopathy in neurosyphilis
Published in Journal of the neurological sciences (15-07-2017)“…Abstract Introduction Neurosyphilis producing basal meningitis presenting as sequential transient cranial nerve palsies was well recognized before the…”
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2749 The spectrum of neuropathy in hereditary transthyretin amyloidosis (ATTRv) in Australia
Published in BMJ neurology open (01-08-2023)“…ObjectivesHereditary Transthyretin amyloidosis (ATTRv) is characterised by progressive sensorimotor and autonomic neuropathy, and cardiac failure. We aim to…”
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4 Serum neurofilament light chain in hereditary transthyretin amyloidosis: a validation study
Published in BMJ neurology open (01-08-2023)“…ObjectivesSensitive biomarkers of disease and progression are needed in hereditary transthyretin amyloidosis (ATTRv). Neurofilament light chain (NfL) has…”
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