Search Results - "Furuya, Hirokazu"
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Management of Dysphagia in Patients with Parkinson's Disease and Related Disorders
Published in Internal Medicine (01-01-2020)“…Various methods of rehabilitation for dysphagia have been suggested through the experience of treating stroke patients. Although most of these patients recover…”
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The Src/c-Abl pathway is a potential therapeutic target in amyotrophic lateral sclerosis
Published in Science translational medicine (24-05-2017)“…Amyotrophic lateral sclerosis (ALS), a fatal disease causing progressive loss of motor neurons, still has no effective treatment. We developed a phenotypic…”
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Transactivation response DNA‐binding protein of 43 kDa proteinopathy and lysosomal abnormalities in spastic paraplegia type 11
Published in Neuropathology (01-08-2021)“…Spastic paraplegia type 11 (SPG11) is the most common autosomal recessive hereditary spastic paraplegia with thinning of the corpus callosum. Spatacsin, a…”
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HLA‐B1511 is a risk factor for carbamazepine‐induced Stevens‐Johnson syndrome and toxic epidermal necrolysis in Japanese patients
Published in Epilepsia (Copenhagen) (01-12-2010)“…Summary Stevens‐Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare but life‐threatening severe cutaneous adverse reactions. Recently, strong…”
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Symmetrical glial hyperplasia in the brainstem of fibrodysplasia ossificans progressiva
Published in Neuropathology (01-04-2021)“…Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disease, characterized by the progressive ossification of skeletal muscles, fascia,…”
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Association of right precuneus compression with apathy in idiopathic normal pressure hydrocephalus: a pilot study
Published in Scientific reports (28-11-2022)“…Apathy is frequently observed in idiopathic normal pressure hydrocephalus (iNPH) and worsens cognitive impairment and gait disturbance. In this study, we…”
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An iPSC-based neural model of sialidosis uncovers glycolytic impairment-causing presynaptic dysfunction and deregulation of Ca2+ dynamics
Published in Neurobiology of disease (01-05-2021)“…Sialidosis is a neuropathic lysosomal storage disease caused by a deficiency in the NEU1 gene-encoding lysosomal neuraminidase and characterized by abnormal…”
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Impaired Food Transportation in Parkinson’s Disease Related to Lingual Bradykinesia
Published in Dysphagia (01-09-2011)“…This study aimed to analyze quantitatively videofluoroscopic (VF) images of patients with Parkinson’s disease (PD), to evaluate if the predicted factors of the…”
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Longitudinal Changes of Tongue Thickness and Tongue Pressure in Neuromuscular Disorders
Published in BMC neurology (05-08-2021)“…Abstract Background Swallowing dysfunction is related to major cause of adverse events and an indicator of shorter survival among patients with neuromuscular…”
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Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses
Published in Journal of human genetics (01-03-2014)“…Hereditary spastic paraplegia (HSP) is one of the most genetically heterogeneous neurodegenerative disorders characterized by progressive spasticity and…”
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Supplemental Treatment for Huntington’s Disease with miR-132 that Is Deficient in Huntington’s Disease Brain
Published in Molecular therapy. Nucleic acids (01-06-2018)“…Huntington’s disease (HD) is an intractable neurodegenerative disorder caused by mutant Huntingtin (HTT) proteins that adversely affect various biomolecules…”
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Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and Atrophy
Published in Internal Medicine (01-07-2019)“…Objective Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease characterized by the progressive loss of the upper and lower motor…”
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Pathogenic Mutation of ALK2 Inhibits Induced Pluripotent Stem Cell Reprogramming and Maintenance: Mechanisms of Reprogramming and Strategy for Drug Identification
Published in Stem cells (Dayton, Ohio) (01-11-2012)“…Fibrodysplasia ossificans progressiva (FOP) is a rare congenital disorder characterized by progressive ossification of soft tissues. FOP is caused by mutations…”
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Drugs causing severe ocular surface involvements in Japanese patients with Stevens–Johnson syndrome/toxic epidermal necrolysis
Published in Allergology international (01-10-2015)Get full text
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Disease progression and phenotypes of non‐motor symptoms in Parkinson’s disease
Published in Neurology and clinical neuroscience (01-01-2021)“…Background Motor symptoms, non‐motor symptoms, and treatment‐related motor complications appear during the course of Parkinson's disease. Aim To observe the…”
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FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion
Published in Journal of human genetics (01-04-2010)“…Mutations in the fused in sarcoma (FUS, also known as translated in liposarcoma) gene have been recently discovered to be associated with familial amyotrophic…”
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Effects of cyclodextrins on GM1-gangliosides in fibroblasts from GM1-gangliosidosis patients
Published in Journal of pharmacy and pharmacology (01-08-2015)“…Objectives GM1‐gangliosidosis is an inherited disorder characterized by the accumulation of GM1‐gangliosides in many tissues and organs, particularly in the…”
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Freezing of gait is an early clinical feature of progressive supranuclear palsy
Published in Neurology and clinical neuroscience (01-05-2017)“…Background and Aim Early clinical diagnosis of progressive supranuclear palsy (PSP) remains challenging. Aim We attempted to identify any sign or symptom to…”
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Dysphagia in duchenne muscular dystrophy versus myotonic dystrophy type 1
Published in Muscle & nerve (01-10-2012)“…Introduction: In this study we aimed to demonstrate the distinctive features of dysphagia in patients with myotonic dystrophy type 1 (DM1) and Duchenne…”
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New susceptibility variants to narcolepsy identified in HLA class II region
Published in Human molecular genetics (01-02-2015)“…Narcolepsy, a sleep disorder characterized by excessive daytime sleepiness, cataplexy and rapid eye movement sleep abnormalities, is tightly associated with…”
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