• KOL
    • Spinal Muscular Atrophy
    • Yasuo Hachiya
    • Yasuo Hachiya: Influence Statistics

      Yasuo Hachiya

      Yasuo Hachiya

      Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo 183-0042, Japan | Department of Neuropediatrics, Tokyo Metropolitan Neurological ...

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      Yasuo Hachiya:Expert Impact

      Concepts for whichYasuo Hachiyahas direct influence:Spinal muscular atrophy,Sympathetic skin response,Interval variation,Intellectual disability,Autonomic dysfunction,Developmental delay,Spinal muscular,Skin response.

      Yasuo Hachiya:KOL impact

      Concepts related to the work of other authors for whichfor which Yasuo Hachiya has influence:Spinal muscular atrophy,Infantile spasms,West syndrome,Motor neurons,Epileptic encephalopathies,Intellectual disability,Nmdar encephalitis.

      KOL Resume for Yasuo Hachiya

      Year
      2021

      Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo 183-0042, Japan

      2020

      Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo, Japan

      2016

      Tokyo Metropolitan Neurological Hospital Department of Neuropediatrics Tokyo Japan

      2015

      Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Japan

      2013

      Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu, Tokyo 183-0042, Japan

      2012

      Department of Pediatrics, Tokyo Metropolitan Fuchu Medical Center for the Disabled, Tokyo, Japan

      2010

      Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu 183-0042, Japan

      2009

      Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo, Japan, and

      2007

      Department of Pediatrics, Tokyo Metropolitan Fuchu Medical Center for the Disabled, 2-9-2 Musashi-dai, Fuchu-shi, 183-8553 Tokyo, Japan

      2006

      Department of Pediatrics, Metropolitan Fuchu Medical Center for SMID, 2-9-2 Musashi-dai, Fuchu-shi, 183-0042, Tokyo, Japan

      2005

      Department of Pediatrics, Metropolitan Fuchu Medical Center for Severe Motor and Intellectual Disabilities, Tokyo, Japan

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      Sample of concepts for which Yasuo Hachiya is among the top experts in the world.
      Concept World rank
      autonomic dysfunction dysfunction #5
      healthy children amplitude #5
      sound stimulation patients #5
      difference interval variation #5
      r—r interval variation #6
      interval variation patients #7
      healthy children amplitudes #8
      amplitude healthy children #9
      atrophic reaction #9
      reversion error #16
      myoclonus neuroprotective #20
      infant kernicterus #21
      children sympathetic #37
      finger cold #41
      vasodilatation sympathetic #45
      calbindind28k parvalbumin #48
      neuropeptides calcium #49
      static encephalopathy childhood #49
      phenotype sptan1 #50
      patients autonomic function #51
      video report #55
      stxbp1 sptan1 #56
      time vasodilation #57
      neurodegeneration adulthood #65
      gabhs infection #67
      vwm patients #71
      childhood neurodegeneration #79
      shortlived plasmablasts #81
      children finger #82
      d28 parvalbumin #88
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      Prominent publications by Yasuo Hachiya

      KOL-Index: 8457

      A de novo 9q33.3-q34.11 microdeletion involving STXBP1 has been found in one of four individuals (group A) with early-onset West syndrome, severe hypomyelination, poor visual attention, and developmental delay. Although haploinsufficiency of STXBP1 was involved in early infantile epileptic encephalopathy in a previous different cohort study (group B), no mutations of STXBP1 were found in two of the remaining three subjects of group A (one was unavailable). We assumed that another gene ...

      Known for Developmental Delay | Stxbp1 Sptan1 | West Syndrome | Spastic Quadriplegia | Alpha Spectrin
      KOL-Index: 7004

      Neuronal ceroid-lipofuscinoses (NCL) are a group of neurodegenerative diseases and autosomal recessive lysosomal storage disorders. We examined the involvement of cell death, oxidative stress, and glutamate excitotoxicity using immunohistochemistry against Bcl-2, Bcl-x, oxidative products to proteins, lipids and DNA, calcium-binding proteins (calbindin-D28K, parvalbumin, calretinin), and glial glutamate transporters (excitatory amino acid transporters 1 and 2), in addition to terminal ...

      Known for Neuronal Ceroid | Oxidative Stress | Calbindind28k Parvalbumin | Glial Glutamate Transporters | Neurodegenerative Mechanisms
      KOL-Index: 5885

      We measured anti-N-methyl-D-aspartate receptor (NMDAR) autoantibody levels and assessed B cell subsets using multicolor flow cytometry of peripheral blood mononuclear cells (PBMCs) from a recurrent anti-NMDAR encephalitis case to evaluate the effectiveness of rituximab treatment. Rituximab depleted CD20(+) fractions of naïve and memory B cell subsets and reduced the number of CD20(-) plasmablasts. This study suggests that short-lived plasmablasts are removed by rituximab-induced ...

      Known for Receptor Encephalitis | Murinederived Antigens | Shortlived Plasmablasts | Methyl Aspartate | Rituximab Treatment
      KOL-Index: 4535

      To elucidate autonomic function in spinal muscular atrophy, we evaluated finger cold-induced vasodilatation, sympathetic skin response, and R-R interval variation in 10 patients with spinal muscular atrophy: 7 of type 1, 2 of type 2, and 1 of type 3. Results of finger cold-induced vasodilatation, sympathetic skin response, and R-R interval variation were compared with those of healthy children. Finger cold-induced vasodilatation was abnormal in 6 of 10 patients with spinal muscular ...

      Known for Spinal Muscular Atrophy | Induced Vasodilatation | Autonomic Dysfunction | Cold Temperature | Female Fingers
      KOL-Index: 3835

      OBJECTIVE: Vanishing white matter disease (VWM) is a chronic, progressive leukoencephalopathy associated with episodes of rapid deterioration following minor stress events such as head traumas or infectious disorders. The white matter of the patients with VWM exhibits characteristic radiological findings.

      METHOD: The genes encoding all five subunits of eukaryotic translation initiation factor 2B (EIF2B) were analyzed in patients, who were tentatively diagnosed with VWM, by Sanger ...

      Known for White Matter | Vwm Patients | Initiation Factor | Eukaryotic Translation | Leukoencephalopathies Magnetic
      KOL-Index: 3659

      In Japan, quite a few patients with spinal muscular atrophy type 1 (SMA type 1) survive with mechanical ventilation. Since a patient with SMA type 1 and continuous artificial ventilation exhibited excessive perspiration and tachycardia, we examined the autonomic functions in three cases of SMA type 1, undergoing mechanical ventilation. Two cases exhibited the common sympathetic-vagal imbalance on R-R interval analysis involving 24-h Holter ECG recordings in addition to an abnormality in ...

      Known for Autonomic Dysfunction | Type 1 | Spinal Muscular | Heart Rate | Atrophies Childhood
      KOL-Index: 3229

      Genetic reversion is the phenomenon of spontaneous gene correction by which gene function is partially or completely rescued. However, it is unknown whether this mechanism always correctly repairs mutations, or is prone to error. We investigated a family of three boys with intellectual disability, and among them we identified two different mutations in KDM5C, located at Xp11.22, using whole-exome sequencing. Two affected boys have c.633delG and the other has c.631delC. We also confirmed ...

      Known for Reversion Error | Intellectual Disability | Wholeexome Sequencing | Somatic Mutation | Female Genes
      KOL-Index: 2833

      Although central nervous system (CNS) disorders associated with group-A beta-hemolytic streptococcal (GABHS) infection occur only rarely, Sydenham's chorea is a well-recognized disease that can arise following infection. Children may develop a tic, obsessive compulsive disorder (OCD), and extrapyramidal movement subsequent to GABHS infection. These disorders have been termed pediatric autoimmune neuropsychiatric disorders associated with streptococci (PANDAS). Herein we report one case ...

      Known for Gabhs Infection | Autoimmune Diseases | Streptococcus Pyogenes | Nervous Cns | Beta Hemolytic
      KOL-Index: 2002
      Known for Static Encephalopathy | Video Report | Childhood Neurodegeneration | Neurodegenerative Diseases
      KOL-Index: 1674

      Whereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different variant types in a single gene, SATB1, cause clinically overlapping but distinct neurodevelopmental disorders. Clinical evaluation of 42 individuals carrying SATB1 variants identified overt genotype-phenotype relationships, associated with ...

      Known for Neurodevelopmental Disorders | Missense Variants | Genotypephenotype Correlations | Attachment Region | Genetic Association
      KOL-Index: 1529

      Bilirubin encephalopathy (BE), which includes acute (kernicterus) and chronic (postkernicteric) forms, results from severe neonatal jaundice. In order to investigate neurodegenerative mechanisms in autopsy cases of BE, we immunohistochemically examined expressions of neurotransmitters, neuropeptides, and calcium-binding proteins in the basal ganglia; and deposition of oxidative products. Expression of tyrosine hydroxylase was reduced in the putamen in cases of acute BE, and in the globus ...

      Known for Basal Ganglia | Severe Neonatal Jaundice | Globus Pallidus | Bilirubin Encephalopathy | Infant Kernicterus
      KOL-Index: 1525

      Intellectual disability (ID) is characterized by significant limitations in both intellectual functioning and adaptive behaviors, originating before the age of 18 years. However, the genetic etiologies of ID are still incompletely elucidated due to the wide range of clinical and genetic heterogeneity. Whole genome sequencing (WGS) has been applied as a single-step clinical diagnostic tool for ID because it detects genetic variations with a wide range of resolution from single nucleotide ...

      Known for Genome Sequencing | Intellectual Disability | Pathogenic Variants
      KOL-Index: 615

      In epileptic patients, focal cortical dysplasia (FCD) is pathologically characterized by irregular cortical lamination, blurring of the grey and white matter border and the occurrence of dysplastic cells in the cerebral cortex. Here, we report the case of a 42-year-old male showing developmental delay, transient repetition of hypoglycemic attack and cortical dysplasia, partly mimicking FCD. He had no family history of neurological disorders. He had never been able to stand independently ...

      Known for Cortical Dysplasia
      KOL-Index: 199
      Known for White Matter | Gangliosidosis Gm1

      Key People For Spinal Muscular Atrophy

      Top KOLs in the world
      #1
      Brunhilde Wirth
      muscular atrophy motor neuron sma patients
      #2
      Judith Melki
      spinal muscular atrophy skeletal muscle motor neuron
      #3
      Arthur H M Burghes
      muscular atrophy motor neuron smn protein
      #4
      Munnich Munnich
      respiratory chain hirschsprung disease human pair
      #5
      Philippe Burlet
      spinal muscular atrophy smn protein cajal bodies
      #6
      Suzie Lefebvre
      spinal muscular atrophy smn protein cajal bodies

      Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo 183-0042, Japan | Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan | Department of Neuropediatrics, Tokyo Metropolitan Neurolog

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