• KOL
    • Pathogenic Variants
    • Michael C Kruer
    • Michael C Kruer: Influence Statistics

      Michael C Kruer

      Michael C Kruer

      Barrow Neurological Institute, Phoenix Children's Hospital; Child Health, Neurology & Genetics, University of Arizona College of Medicine, Phoenix, Arizona | Barrow ...

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      Michael C Kruer:Expert Impact

      Concepts for whichMichael C Kruerhas direct influence:Pathogenic variants,Exome sequencing,Novo pathogenic variants,Wdr45 mutations,Patients lchnd,Cell histiocytosis,Langerhans cell,Brain mri.

      Michael C Kruer:KOL impact

      Concepts related to the work of other authors for whichfor which Michael C Kruer has influence:Brain iron accumulation,Langerhans cell histiocytosis,Intellectual disability,Exome sequencing,Movement disorders,Developmental delay,Epileptic encephalopathies.

      KOL Resume for Michael C Kruer

      Year
      2018

      Barrow Neurological Institute, Phoenix Children's Hospital; Child Health, Neurology & Genetics, University of Arizona College of Medicine, Phoenix, Arizona

      2012

      Sanford Children’s Health Research Center, Sioux Falls, SD 57104, USA

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      Sample of concepts for which Michael C Kruer is among the top experts in the world.
      Concept World rank
      biallelic polr1c #21
      lchnd patients #41
      lchnd #44
      patients lchnd #44
      dementia early adulthood #45
      novo wdr45 mutations #46
      wdr45 nbia #48
      betapropeller scaffold protein #59
      novo wdr45 #61
      variants cacna1e #64
      lch compared #74
      nbia neurodegeneration #98
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      Prominent publications by Michael C Kruer

      KOL-Index: 9146

      Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a putative role in autophagy, cause a distinctive NBIA phenotype. The clinical features include early-onset global developmental delay and further neurological deterioration (parkinsonism, dystonia, and dementia ...

      Known for Exome Sequencing | Wdr45 Mutations | Iron Deposition | Basal Ganglia | Brain Mri
      KOL-Index: 7174

      BACKGROUND: Central nervous system Langerhans cell histiocytosis (CNS-LCH) brain involvement may include mass lesions and/or a neurodegenerative disease (LCH-ND) of unknown etiology. The goal of this study was to define the mechanisms of pathogenesis that drive CNS-LCH.

      METHODS: Cerebrospinal fluid (CSF) biomarkers including CSF proteins and extracellular BRAFV600E DNA were analyzed in CSF from patients with CNS-LCH lesions compared with patients with brain tumors and other ...

      Known for Cell Histiocytosis | Patients Lchnd | Lch Lesions | Neurodegenerative Disease | Braf V600e
      KOL-Index: 6701

      Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression. CACNA1E is highly expressed in the central nervous system and encodes the α1-subunit of the voltage-gated CaV2.3 channel, which conducts high voltage-activated R-type calcium currents that initiate synaptic transmission. ...

      Known for Pathogenic Variants | Type Calcium | Functional Analysis | Early Death | Neurodevelopmental Disorders
      KOL-Index: 3032

      Objective: To determine the clinical, radiologic, and molecular characteristics of RNA polymerase III-related leukodystrophy (POLR3-HLD) caused by biallelic POLR1C pathogenic variants.

      Methods: A cross-sectional observational study involving 25 centers worldwide was conducted. Clinical and molecular information was collected on 23 unreported and previously reported patients with POLR3-HLD and biallelic pathogenic variants in POLR1C. Brain MRI studies were reviewed.

      Results: Fourteen ...

      Known for Pathogenic Variants | Leukodystrophy Caused | White Matter | Biallelic Polr1c | Clinical Spectrum

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      Barrow Neurological Institute, Phoenix Children's Hospital; Child Health, Neurology & Genetics, University of Arizona College of Medicine, Phoenix, Arizona | Barrow Neurological Institute, Phoenix Children’s Hospital, Departments of Child Health, Gen

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