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Results 1 - 10 of 10 for Neuronal ceroid lipofuscinosis 1
  1. CLN1 disease 
    ... CLN1 Infantile Batten disease Infantile neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 1 Neuronal ceroid lipofuscinosis, infantile Santavuori-Haltia disease Genetic ...
    https://medlineplus.gov/genetics/condition/cln1-disease - Genetics
  2. 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 ... scheme for the neuronal ceroid lipofuscinoses. Neurology. 2012 Jul 10;79(2): ...
    https://medlineplus.gov/genetics/condition/cln8-disease - Genetics
  3. CLN4 disease 
    ... cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet. 2013 Apr 1;22(7):1417-23. doi: 10.1093/hmg/ ... and 8 other families. PLoS One. 2012;7(1):e29729. doi: ... for the neuronal ceroid lipofuscinoses. Neurology. 2012 Jul 10;79(2):183-91. ...
    https://medlineplus.gov/genetics/condition/cln4-disease - Genetics
  4. CLN7 disease 
    ... Lahtinen U, Anttonen AK, Lehesjoki AE. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet. 2007 Jul;81(1):136-46. doi: 10.1086/518902. Epub 2007 ...
    https://medlineplus.gov/genetics/condition/cln7-disease - Genetics
  5. CLN2 disease 
    ... Specchio N, Xin W, Miller N. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. Mol Genet Metab. 2016 Sep;119(1-2):160-7. doi: 10.1016/j.ymgme. ...
    https://medlineplus.gov/genetics/condition/cln2-disease - Genetics
  6. CLN5 disease 
    ... Adams J, Lee SY. Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. Exp Cell Res. 2015 Oct 15;338(1):45-53. doi: 10.1016/j.yexcr.2015. ...
    https://medlineplus.gov/genetics/condition/cln5-disease - Genetics
  7. CLN10 disease 
    ... 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624. Epub 2011 Nov 16. Citation on PubMed Siintola E, Partanen S, Stromme P, ... human neuronal ceroid-lipofuscinosis. Brain. 2006 Jun;129(Pt 6):1438-45. ...
    https://medlineplus.gov/genetics/condition/cln10-disease - Genetics
  8. CLN11 disease 
    ... 1093/brain/awz377. Erratum In: Brain. 2020 Mar 1;143(3):e24. doi: 10.1093/brain/awaa007. Citation on PubMed Kamate M, Detroja M, Hattiholi V. Neuronal ceroid lipofuscinosis type-11 in an adolescent. Brain Dev. 2019 ...
    https://medlineplus.gov/genetics/condition/cln11-disease - Genetics
  9. CLN3 disease 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking. Clin Lipidol. 2012 Feb;7(1):79-91. doi: 10.2217/clp.11.70. ...
    https://medlineplus.gov/genetics/condition/cln3-disease - Genetics
  10. CLN6 disease 
    ... disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to ... worldwide. Mutations in the ...
    https://medlineplus.gov/genetics/condition/cln6-disease - Genetics