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Results 1 - 10 of 16 for Ceroid lipofuscinosis neuronal 5
  1. CLN5 gene 
    ... This Health Condition ceroid-lipofuscinosis neuronal protein 5 ceroid-lipofuscinosis, neuronal 5 CLN5_HUMAN Tests of CLN5 PubMed CLN5 INTRACELLULAR TRAFFICKING PROTEIN; CLN5 NCBI Gene ClinVar ... De Silva B, Adams J, Lee SY. Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. Exp Cell Res. ...
    https://medlineplus.gov/genetics/gene/cln5 - Genetics
  2. CLN5 disease 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5 PubMed De Silva B, Adams J, Lee SY. Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. Exp Cell Res. ...
    https://medlineplus.gov/genetics/condition/cln5-disease - Genetics
  3. TPP1 gene 
    ... TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum Mutat. 2013 May;34(5):706-13. doi: 10.1002/humu.22292. Epub ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  4. CLN8 gene 
    ... WA, Mole SE, Lehesjoki AE. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. Hum Mutat. 2004 Apr;23(4):300-5. doi: 10.1002/humu.20018. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/cln8 - Genetics
  5. PPT1 gene 
    ... M, Anderson G, Green E, Mole SE. Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. Neurology. 2007 Jan 30;68(5):387-8. doi: 10.1212/01.wnl.0000252825. ...
    https://medlineplus.gov/genetics/gene/ppt1 - Genetics
  6. CLN3 disease 
    ... R, Martinez-Bermejo A, Pineda Marfa M. Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. J Inherit Metab Dis. 2011 Oct;34(5):1083-93. doi: 10.1007/s10545-011-9323- ...
    https://medlineplus.gov/genetics/condition/cln3-disease - Genetics
  7. CLN8 disease 
    ... the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. Clin Genet. 2010 Jan;77(1):79-85. doi: 10.1111/j.1399-0004.2009.01285.x. Epub 2009 Oct 5. Citation on PubMed Williams RE, Mole SE. New ...
    https://medlineplus.gov/genetics/condition/cln8-disease - Genetics
  8. CLN6 gene 
    ... SF. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011. ...
    https://medlineplus.gov/genetics/gene/cln6 - Genetics
  9. CLN7 disease 
    ... are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain. 2009 Mar;132(Pt 3):810-9. doi: 10.1093/brain/awn366. Epub 2009 Feb 5. Citation on PubMed Sharifi A, Kousi M, Sagne ...
    https://medlineplus.gov/genetics/condition/cln7-disease - Genetics
  10. MFSD8 gene 
    ... are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain. 2009 Mar;132(Pt 3):810-9. doi: 10.1093/brain/awn366. Epub 2009 Feb 5. Citation on PubMed Sharifi A, Kousi M, Sagne ...
    https://medlineplus.gov/genetics/gene/mfsd8 - Genetics
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