СИНДРОМЫ.
НАСЛЕДСТВЕННЫЕ БОЛЕЗНИ


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>NEPHRONOPHTHISIS
  • GENETIC BASIS
      ◊ Nek8
  • NEURAL TUBE DEFECTS
  • GENETIC BASIS
      ◊& Planar cell polarity
  • MODELL MOUSE
      ◊Preventive Mechanisms

  • NEUROBLASTOMA
  • ASYMMETRIC CELL DIVISION
      ◊centrosome inheritance


  • NEURODEGENERATIVE DISEASE
  • GENETIC CONTROL
      ◊ Role of Cdk5

  •   ◊ Role of microRNA
      ◊GRM7 deficiency, from excitotoxicity and neuroinflammation to neurodegeneration
  • IMPAIRED SENSE OF SMELL
      ◊ impaired sense of smell is earliest symptoms some neurodegenerative diseases
      ◊ Corticosteroid-Induced Neuropsychiatric Disorders and Theranostic Advancements through Gene Editing Tools
  • IN CHILDHOOD
      ◊ UBTF Gain-of-Function Variant Is Associated with Neurodegeneration
  • SUBVENTRICULAR ZONE CHANGES
      ◊Therapeutic intervention


  • NEUROLOGICAL DISEASE
  • MODELLING
      ◊Stem cells
  • RNA LOCALIZATION
      ◊RNA-binding proteins
  • ROLE OF ANGIOGENESIS
      ◊Description


  • Nephronophthisis

    NEURODEGENERATIVE DISEASES
  • AMYLOIDOGENIC PEPTIDES
      ◊ Competition between crystal and fibril formation in molecular mutations
      ◊ Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.
  • ROLE OF MICROGLIAL TREM2
      ◊ The role of microglial TREM2 in development: A path toward neurodegeneration?


  • AMYLOIDOGENIC PEPTIDES
      ◊ Competition between crystal and fibril formation in molecular mutations


  • NEUROMUSCULAR DISEASES
  • BIRTH NONPROGRESSIVE NEUROMUSCULAR DISEASES
      ◊The Importance of Brain Mapping for Rehabilitation in Birth Nonprogressive Neuromuscular Diseases


  • NEUROPATHIES
  • HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES (HSANs)
      ◊Role of DNA methyl transferase 1


  • NEUTROPENIA ()
  • KOSTMANN DISEASE
      ◊gene HAX1


  • NEUROPATIES INHERITED PERIPHERAL
  • description
  • mechanisms

  • Niemann-Pick disease
  • Type C (NPC)

  • NPS
    NON-CODING RNA
  • PATHOGENIC VARIANTS
      ◊ Effects


  • NOTCH DISORDERS
  • GENETIC CONTROL
      ◊ Phenotypic anomalies


  • NUCLEOLAR STRESS
  • FROM DEVELOPMENT TO CANCER
      ◊ Nucleolar stress: From development to cancer