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Results 1 - 10 of 13 for neurologic diseases
  1. FOLR1 gene 
    ... null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment. Neurology. 2009 Dec 15;73( ...
    https://medlineplus.gov/genetics/gene/folr1 - Genetics
  2. PNKP gene 
    ... McKinnon PJ. Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease. Mech Ageing Dev. 2017 Jan;161(Pt A): ...
    https://medlineplus.gov/genetics/gene/pnkp - Genetics
  3. HSPB8 gene 
    ... Wang X. Structure, function, property, and role in neurologic diseases and other diseases of the sHsp22. J Neurosci ...
    https://medlineplus.gov/genetics/gene/hspb8 - Genetics
  4. ATP7A gene 
    ... Godwin SC, Kaler SG. Functional copper transport explains neurologic sparing in ... and role in Menkes disease. J Bioenerg Biomembr. 2002 Oct;34(5):363- ...
    https://medlineplus.gov/genetics/gene/atp7a - Genetics
  5. TREX1 gene 
    ... its association with DNA replication and inherited inflammatory disease. Biochem Soc Trans. 2009 Jun;37(Pt 3):535-8. doi: 10.1042/BST0370535. Citation on PubMed Livingston JH, Crow YJ. Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, ...
    https://medlineplus.gov/genetics/gene/trex1 - Genetics
  6. BSCL2 gene 
    ... N. Seipinopathy: a novel endoplasmic reticulum stress-associated disease. Brain. 2009 Jan;132(Pt 1):8-15. doi: 10.1093/brain/awn216. Epub 2008 Sep 12. Citation on PubMed Ito D. BSCL2-Related Neurologic Disorders / Seipinopathy. 2005 Dec 6 [updated 2018 May ...
    https://medlineplus.gov/genetics/gene/bscl2 - Genetics
  7. SMARCAL1 gene 
    ... Kooy D, Okano H, Armstrong DL, Boerkoel CF. Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental ...
    https://medlineplus.gov/genetics/gene/smarcal1 - Genetics
  8. SLC16A2 gene 
    ... linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype. J Child Neurol. 2005 Oct;20(10): ... Visser TJ. Thyroid hormone transporters in health and disease. Thyroid. 2005 Aug;15(8):757-68. doi: ...
    https://medlineplus.gov/genetics/gene/slc16a2 - Genetics
  9. RNASEH2A gene 
    ... 19. Citation on PubMed Livingston JH, Crow YJ. Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, ...
    https://medlineplus.gov/genetics/gene/rnaseh2a - Genetics
  10. TWNK gene 
    ... in Twinkle primase-helicase cause Perrault syndrome with neurologic features. Neurology. 2014 Nov 25;83(22):2054- ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
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