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Results 1 - 10 of 27 for Neuronal ceroid lipofuscinosis
  1. ... the condition. Cathepsin D deficiency Cathepsin D deficient neuronal ceroid lipofuscinosis CLN10 Congenital neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis ...
  2. Neuronal Ceroid Lipofuscinosis (Batten Disease) From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... National Institute of Neurological ...
  3. ... of the condition. CLN1 Infantile Batten disease Infantile neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 1 Neuronal ceroid lipofuscinosis, infantile ...
  4. ... Bielschowsky disease Late-infantile Batten disease Late-infantile neuronal ceroid lipofuscinosis LINCL Neuronal ceroid lipofuscinosis, late-infantile Genetic Testing ...
  5. ... not show signs and symptoms of the condition. Neuronal ceroid lipofuscinosis 8 Genetic Testing Registry: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Genetic Testing Registry: Neuronal ...
  6. ... history of the disorder in their family. Adult neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant CLN4B Parry ... Registry: Ceroid lipofuscinosis, neuronal, 4 (Kufs type) Adult neuronal ceroid ... Disease InfoSearch National Organization for Rare Disorders (NORD) ...
  7. ... of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosis. Biochim Biophys Acta. 2013 Mar;1833(3):529- ... WA, Mole SE, Lehesjoki AE. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic ...
  8. ... SF. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum ... PubMed Kay C. Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile ...
  9. ... Adams J, Lee SY. Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. Exp Cell Res. 2015 ... A, Braulke T. Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys Acta. 2013 Nov;1832( ...
  10. ... Center -- rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis Batten Disease Support and Research Association -- bdsrafoundation.org
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