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Results 1 - 10 of 31 for citation of the basal ganglia
  1. Biotin-thiamine-responsive basal ganglia disease 
    ... 10.1212/WNL.0b013e31827deb4c. Epub 2012 Dec 26. Citation on PubMed
    https://medlineplus.gov/...thiamine-responsive-basal-ganglia-disease - Genetics
  2. SLC19A3 gene 
    ... 126-30. doi: 10.1001/archneurol.2009.293. Citation on PubMed El-Hajj TI, Karam PE, Mikati MA. Biotin-responsive basal ganglia disease: case report and review of the literature. ...
    https://medlineplus.gov/genetics/gene/slc19a3 - Genetics
  3. Lesch-Nyhan syndrome 
    ... doi: 10.1016/s0387-7604(00)00143-1. Citation on PubMed Visser JE, Bar PR, Jinnah HA. Lesch-Nyhan disease and the basal ganglia. Brain Res Brain Res Rev. 2000 Apr;32( ...
    https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome - Genetics
  4. Primary familial brain calcification 
    ... doi: 10.1002/acn3.684. eCollection 2019 Jan. Citation on PubMed or Free article on PubMed Central Arts FA, Velghe AI, Stevens M, Renauld JC, Essaghir A, Demoulin JB. Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling. ...
    https://medlineplus.gov/.../primary-familial-brain-calcification - Genetics
  5. FTL gene 
    ... encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet. 2001 Aug;28(4):350-4. doi: 10.1038/ng571. Citation on PubMed Koorts AM, Viljoen M. Ferritin and ...
    https://medlineplus.gov/genetics/gene/ftl - Genetics
  6. Cerebral folate transport deficiency 
    ... doi: 10.1016/j.ajhg.2009.08.005. Citation on PubMed or Free article on PubMed Central Toelle SP, Wille D, Schmitt B, Scheer I, Thony B, Plecko B. Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 ...
    https://medlineplus.gov/.../cerebral-folate-transport-deficiency - Genetics
  7. SLC20A2 gene 
    ... Liu JY. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet. 2012 Feb 12;44(3):254-6. doi: 10.1038/ng.1077. Citation on PubMed
    https://medlineplus.gov/genetics/gene/slc20a2 - Genetics
  8. TYROBP gene 
    ... s00109-007-0191-4. Epub 2007 May 26. Citation on PubMed Klunemann HH, Ridha BH, Magy L, Wherrett JR, Hemelsoet DM, Keen RW, De Bleecker JL, Rossor MN, Marienhagen J, Klein HE, Peltonen L, Paloneva J. The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. ...
    https://medlineplus.gov/genetics/gene/tyrobp - Genetics
  9. TREM2 gene 
    ... s00109-007-0191-4. Epub 2007 May 26. Citation on PubMed Klunemann HH, Ridha BH, Magy L, Wherrett JR, Hemelsoet DM, Keen RW, De Bleecker JL, Rossor MN, Marienhagen J, Klein HE, Peltonen L, Paloneva J. The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. ...
    https://medlineplus.gov/genetics/gene/trem2 - Genetics
  10. TUBB4A-related leukodystrophy 
    ... in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet. 2013 May 2;92(5):767-73. doi: 10.1016/j.ajhg.2013.03.018. Epub 2013 Apr 11. Citation on PubMed or Free article on PubMed Central ...
    https://medlineplus.gov/.../condition/tubb4a-related-leukodystrophy - Genetics
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