Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 21 for Infantile neuronal ceroid lipofuscinosis
  1. ... symptoms of the condition. CLN1 Infantile Batten disease Infantile neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 1 Neuronal ceroid lipofuscinosis, infantile ...
  2. ... Jansky-Bielschowsky disease Late-infantile Batten disease Late-infantile neuronal ceroid lipofuscinosis LINCL Neuronal ceroid lipofuscinosis, late-infantile Genetic Testing ...
  3. ... 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. ...
  4. ... M, Iliescu C. Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the ... MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain. 2009 Mar;132(Pt 3):810-9. ...
  5. ... Cooper JD, Sands MS. Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease). Biochim Biophys Acta. 2013 Nov; ... Grosso S, Piemonte F, Santorelli FM. Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations. Pediatr Neurol. 2009 Apr; ...
  6. ... and symptoms of the condition. Finnish variant late infantile neuronal ceroid lipofuscinosis Finnish vLINCL Jansky-Bielschowsky disease Late-infantile neuronal ...
  7. Neuronal ceroid lipofuscinoses (NCL) refers to a group of rare disorders of the nerve cells. NCL is passed down ... Kufs or Parry disease) Juvenile (Batten disease) Late infantile (Jansky-Bielschowsky disease)
  8. ... Mitchell WA, Mole SE, Lehesjoki AE. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic ... confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. Clin Genet. 2010 Jan;77(1):79-85. ...
  9. ... N, Haginoya K. First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations. Brain Dev. 2016 ...
  10. ... provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. J Biol Chem. 2009 Feb 6;284(6): ... in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum Mutat. 2013 May; ...
previous · 1 · 2 · 3 · next