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Results 1 - 10 of 21 for "Late-infantile" neuronal ceroid lipofuscinosis
  1. CLN2 disease 
    ... condition. Jansky-Bielschowsky disease Late-infantile Batten disease Late-infantile neuronal ceroid lipofuscinosis LINCL Neuronal ceroid lipofuscinosis, late-infantile Genetic Testing ...
    https://medlineplus.gov/genetics/condition/cln2-disease - Genetics
  2. CLN8 disease 
    ... mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. Clin Genet. 2010 Jan;77(1):79-85. ... SE. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology. 2012 Jul 10;79(2):183-91. ...
    https://medlineplus.gov/genetics/condition/cln8-disease - Genetics
  3. CLN7 disease 
    ... Craiu M, Iliescu C. Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the ... CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain. 2009 Mar;132(Pt 3):810-9. ...
    https://medlineplus.gov/genetics/condition/cln7-disease - Genetics
  4. CLN5 disease 
    ... signs and symptoms of the condition. Finnish variant late infantile neuronal ceroid lipofuscinosis Finnish vLINCL Jansky-Bielschowsky disease Late-infantile neuronal ...
    https://medlineplus.gov/genetics/condition/cln5-disease - Genetics
  5. Neuronal ceroid lipofuscinoses (NCL) 
    Neuronal ceroid lipofuscinoses (NCL) refers to a group of rare disorders of the nerve cells. NCL is passed down ... Adult (Kufs or Parry disease) Juvenile (Batten disease) Late infantile (Jansky-Bielschowsky disease)
    https://medlineplus.gov/ency/article/001613.htm - Medical Encyclopedia
  6. CLN8 gene 
    ... Y, Mitchell WA, Mole SE, Lehesjoki AE. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic ... mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. Clin Genet. 2010 Jan;77(1):79-85. ...
    https://medlineplus.gov/genetics/gene/cln8 - Genetics
  7. CLN6 gene 
    ... Matsumoto N, Haginoya K. First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations. Brain Dev. 2016 ...
    https://medlineplus.gov/genetics/gene/cln6 - Genetics
  8. TPP1 gene 
    ... I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. J Biol Chem. 2009 Feb 6;284(6): ... variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum Mutat. 2013 May; ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  9. MFSD8 gene 
    ... CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain. 2009 Mar;132(Pt 3):810-9. ... a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis. Hum Mol Genet. 2010 Nov 15;19(22): ...
    https://medlineplus.gov/genetics/gene/mfsd8 - Genetics
  10. CLN6 disease 
    ... Matsumoto N, Haginoya K. First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations. Brain Dev. 2016 ... SE. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology. 2012 Jul 10;79(2):183-91. ...
    https://medlineplus.gov/genetics/condition/cln6-disease - Genetics
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