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Results 1 - 10 of 106 for Abnormal central motor function
  1. DCTN1 gene 
    ... is unclear how this mutation causes distal hereditary motor neuronopathy ... activities and impair the function of axons in neurons.At least one DCTN1 ...
    https://medlineplus.gov/genetics/gene/dctn1 - Genetics
  2. Sjögren-Larsson syndrome 
    ... Citation on PubMed or Free article on PubMed Central Rizzo WB, S'Aulis D, Jennings MA, Crumrine DA, Williams ML, Elias PM. Ichthyosis in Sjogren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion. Arch Dermatol Res. ...
    https://medlineplus.gov/genetics/condition/sjogren-larsson-syndrome - Genetics
  3. C9orf72 gene 
    ... leads to the production of a protein with abnormal function that disrupts RNA and protein production in the cell, resulting in the formation of protein clumps (aggregates). In ALS, the large size of motor neurons is thought to make these cells vulnerable ...
    https://medlineplus.gov/genetics/gene/c9orf72 - Genetics
  4. SNCB gene 
    ... accumulation and the formation of Lewy bodies. These abnormal protein clusters are ... and motor function and the regulation of emotions, resulting in ...
    https://medlineplus.gov/genetics/gene/sncb - Genetics
  5. Lesch-Nyhan syndrome 
    ... Nyhan Disease International Study Group. Delineation of the motor disorder of ... WL. Dopamine function in Lesch-Nyhan disease. Environ Health Perspect. 2000 ...
    https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome - Genetics
  6. Hereditary neuropathy with liability to pressure palsies 
    ... Tian X, Carter BD, Suter U, Li J. Abnormal junctions and permeability of myelin in ... phenotype of hereditary neuropathy with liability to pressure ...
    https://medlineplus.gov/...opathy-with-liability-to-pressure-palsies - Genetics
  7. SNCA gene 
    ... production of an alpha-synuclein protein with an abnormal shape. The misshapen ... and motor function and the regulation of emotions, resulting in ...
    https://medlineplus.gov/genetics/gene/snca - Genetics
  8. CLN6 gene 
    ... found to cause CLN6 disease. This condition impairs motor and mental development, ... of an abnormal CLN6 protein that is quickly broken down (degraded). ...
    https://medlineplus.gov/genetics/gene/cln6 - Genetics
  9. GBA1 gene 
    ... of an altered lysosomal acid glucosylceramidase enzyme. This abnormal enzyme may ... and motor function and the regulation of emotions, resulting in ...
    https://medlineplus.gov/genetics/gene/gba1 - Genetics
  10. TUBB3 gene 
    ... involved. Abnormal growth of cranial nerves impairs the function of ... motor proteins from attaching to microtubules. These mutations typically ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
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