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Results 11 - 19 of 19 for Neuronal ceroid lipofuscinosis 1
  1. TPP1 gene 
    ... 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/gene/tpp1 - Genetics
  2. 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
  3. MFSD8 gene 
    ... 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/gene/mfsd8 - Genetics
  4. CLN3 gene 
    ... Tanhuanpaa K, Neefjes J, Olkkonen VM, Jalanko A. Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. Cell Mol Life Sci. 2012 Jun;69(12):2075-89. doi: 10.1007/s00018-011-0913-1. Epub 2012 Jan 20. Citation on PubMed
    https://medlineplus.gov/genetics/gene/cln3 - Genetics
  5. 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
  6. 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
  7. 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
  8. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... disease Mucolipidosis type IV CLN5 disease , also called neuronal ceroid lipofuscinosis ( CLN5 -related) CLN1 disease , also called neuronal ceroid lipofuscinosis ( PPT1 -related) Niemann-Pick disease Nijmegen breakage syndrome ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  9. DNAJC5 gene 
    ... sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. PLoS One. 2011;6(11):e26741. doi: 10. ... Davis NG, Dawson G, Velinov M, Chandra SS. Neuronal ceroid lipofuscinosis with DNAJC5/CSPalpha mutation has PPT1 pathology and ...
    https://medlineplus.gov/genetics/gene/dnajc5 - Genetics
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