Search Results - "Kawabe, Miho"
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Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
Published in Nature genetics (01-08-2019)“…Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar…”
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Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
Published in Nature genetics (01-04-2018)“…Epilepsy is a common neurological disorder, and mutations in genes encoding ion channels or neurotransmitter receptors are frequent causes of monogenic forms…”
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3
Recent advances in benign adult familial myoclonus epilepsy
Published in Neurology and clinical neuroscience (01-01-2024)“…Benign adult familial myoclonus epilepsy (BAFME), also called familial cortical myoclonic tremor and epilepsy (FCMTE), autosomal dominant cortical tremor,…”
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4
Optic neuropathy and decorticate-like posture as presenting symptoms of Bickerstaff’s brainstem encephalitis: A case report and literature review
Published in Clinical neurology and neurosurgery (01-10-2018)“…•Optic neuropathy and decorticate-like posture can be seen in Bickerstaff’s brainstem encephalitis.•Decorticate-like posture does not necessarily indicate poor…”
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5
Does gestational nutrition affect the oral health of the new-born? An integrative review
Published in Contemporary pediatric dentistry (01-07-2023)“…Maternal nutrition and diet directly impact the development of the foetus. Thus, nutritional deficits, as well as maternal overweight or low weight, directly…”
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Evaluating the impact of adjunctive istradefylline on the cumulative dose of levodopa-containing medications in Parkinson's disease: study protocol for the ISTRA ADJUST PD randomized, controlled study
Published in BMC neurology (03-03-2022)“…Levodopa remains the most effective symptomatic treatment for Parkinson's disease (PD) more than 50 years after its clinical introduction. However, the onset…”
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Impact of Istradefylline on Levodopa Dose Escalation in Parkinson’s Disease: ISTRA ADJUST PD Study, a Multicenter, Open-Label, Randomized, Parallel-Group Controlled Study
Published in Neurology and therapy (01-04-2024)“…Introduction A higher levodopa dose is a risk factor for motor complications in Parkinson’s disease (PD). Istradefylline (IST) is used as adjunctive treatment…”
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Randomized, double‐blind, placebo‐controlled phase 1 study to evaluate the safety and pharmacokinetics of high doses of ubiquinol in healthy adults
Published in Neurology and clinical neuroscience (01-01-2022)“…Background Multiple system atrophy (MSA) is an intractable neurodegenerative disease. Higher frequencies of carriers of the V393A variant in COQ2 and lower…”
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Slowly progressive D-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing
Published in Journal of the neurological sciences (15-01-2017)“…Abstract d -Bifunctional protein (DBP) deficiency is an autosomal recessive disorder of peroxisomal fatty acid oxidation caused by mutations in HSD17B4 . It is…”
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Acyclovir encephalopathy in a peritoneal dialysis patient despite adjusting the dose of oral acyclovir: a case report
Published in Rinsho shinkeigaku = Clinical neurology (25-12-2019)“…We report a case of acyclovir encephalopathy in a 77-year-old man who was introduced to peritoneal dialysis three years earlier. He developed herpes zoster and…”
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Relapsing polychondritis‐associated limbic encephalitis preceding the emergence of systemic inflammation
Published in Neurology and clinical neuroscience (01-07-2016)“…A 67‐year‐old man presented with limbic encephalitis diagnosed from clinical symptoms and abnormal findings on brain magnetic resonance imaging. No…”
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Case report; a case of anti-NMDA receptor encephalitis with a history of removal of ovarian teratoma
Published in Nihon Naika Gakkai zasshi (10-11-2013)Get more information
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13
Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population
Published in Cerebellum (London, England) (01-12-2022)“…Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder caused by FMR1 premutation expansion of CGG repeats. FXTAS can…”
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Clinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy
Published in Brain communications (01-01-2020)“…Abstract Accumulated experience supports the efficacy of allogenic haematopoietic stem cell transplantation in arresting the progression of childhood-onset…”
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