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Results 91 - 100 of 363 for Brain disorder
  1. ... a loss of nerve cells, particularly in the brain. The loss of these cells likely contributes to the encephalopathy and movement disorders characteristic of autosomal recessive congenital methemoglobinemia type II. ...
  2. ... pigmented glia (ALSP). ALSP is a severe neurological disorder characterized by damage to a type of brain tissue called white matter. Symptoms of this condition ...
  3. ... that are especially important for development of the brain. At least seven ASH1L gene mutations have been identified in people with autism spectrum disorder (ASD), a varied condition characterized by impaired social ...
  4. ... 137(Pt 1):69-77. doi: 10.1093/brain/awt326. Epub 2013 Dec 19. Citation on PubMed or Free article on PubMed Central Synofzik M, Hufnagel RB, Zuchner S. PNPLA6 Disorders. 2014 Oct 9 [updated 2021 Jun 10]. In: ...
  5. ... ED, Fischbeck KH, Goldfarb LG. Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. Brain. 2005 Oct;128(Pt 10):2304-14. doi: ...
  6. ... brain regions that are involved in primary familial brain calcification. More About This Health Condition Additional mutations in the PDGFRB gene cause a variety of disorders including infantile myofibromatosis; Kosaki overgrowth syndrome; and premature ...
  7. ... channels, disrupting normal communication between neurons in the brain. Researchers are working to determine why variants in this single gene can cause several different disorders of the nervous system. AEMK EA1 HBK1 HUK1 ...
  8. ... in neurons. This control is important for normal brain development. At least 14 PQBP1 gene mutations have been identified in people with Renpenning syndrome, a disorder that occurs almost exclusively in males and causes ...
  9. ... cause SUCLG1-related mtDNA depletion syndrome, an inherited disorder that affects the early development of the brain. Most SUCLG1 gene variants change a single protein ...
  10. ... a chemical messenger that transmits signals within the brain to produce smooth physical movements. It remains unclear how GBA1 gene variants are related to these disorders. Studies suggest that changes in this gene may ...
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