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(neuronal ceroid lipofuscinosis)
2,459 results
  • A novel IRF2BPL truncating variant is associated with endolysosomal storage. [Journal Article]
    Mol Biol Rep 2019Ginevrino M, Battini R, … Valente EM
  • De novo mutations in the IRF2BPL gene have been identified to date in 18 patients presenting with neuromotor regression, epilepsy and variable neurological signs. Here, we report a female child carrying a novel heterozygous truncating variant in IRF2BPL. Following normal development for two and half years, she developed a progressive neurological condition with psychomotor regression, dystonic te…
  • The CLN3 gene and protein: What we know. [Review]
    Mol Genet Genomic Med 2019; :e859Mirza M, Vainshtein A, … Kerkovich DM
  • CONCLUSIONS: Revisiting the experimental history of a target gene and its product ensures that inaccuracies and contradictions come to light, long-held beliefs and assumptions continue to be challenged, and information that was previously deemed inconsequential gets a second look. Compiling the information into one manuscript with all appropriate primary references provides quick clues to which studies have been completed under which conditions and what information has been reported. This compendium does not seek to replace original articles or subtopic reviews but provides an historical roadmap to completed works.
  • Pharmacological approaches to tackle NCLs. [Journal Article]
    Biochim Biophys Acta Mol Basis Dis 2019; :165553Kauss V, Dambrova M, Medina DL
  • Neuronal ceroid lipofuscinoses, also collectively known as Batten disease, are a group of rare monogenic disorders caused by mutations in at least 13 different genes. They are characterized by the accumulation of lysosomal storage material and progressive neurological deterioration with dementia, epilepsy, retinopathy, motor disturbances, and early death [1]. Although the identification of diseas…
  • Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene. [Journal Article]
    Mol Genet Genomic Med 2019; :e968Wang J, Zhang Q, … Bao X
  • CONCLUSIONS: It is the first time that pathogenic variants of GRIN1 and KIF1A were linked to RTT and Rett-like profiles. Our findings expanded the genetic heterogeneity of Chinese RTT or Rett-like patients, and also suggest that some patients with genetic metabolic disease such as NCL, might displayed Rett features initially, and clinical follow-up is essential for the diagnosis.
  • Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis. [Journal Article]
    Dev Med Child Neurol 2019Dozières-Puyravel B, Nasser H, … Auvin S
  • Neuronal ceroid lipofuscinoses (NCLs) are rare, progressive disorders. Through this series of 20 patients with NCL, we illustrate differences between subtypes in their presenting symptoms and clinical, imaging, and electrophysiological results to raise awareness of symptom diversity. Data were available on presenting symptoms, genetics, magnetic resonance imaging (MRI), electroencephalography (in…
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