Results 11 -
17
of
17
for
Neuronal ceroid lipofuscinosis 3
- ... the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation. Neurobiol Aging. 2016 May;41:200.e1-200.e5. doi: 10.1016/j.neurobiolaging.2016.02.019. Epub 2016 Mar 3. Citation on PubMed Canafoglia L, Morbin M, Scaioli ...
- Neuronal ceroid lipofuscinoses (NCL) refers to a group of rare ... Juvenile (Batten disease) Late infantile (Jansky-Bielschowsky ...
- Neuronal Ceroid Lipofuscinosis (Batten Disease) (National Institute of Neurological Disorders and Stroke)Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... National Institute of Neurological ...
- ... 119-24. doi: 10.1007/s00401-008-0349-3. Epub 2008 Feb 19. Citation on PubMed ... ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early ...
- ... 10.1371/journal.pone.0029729. Epub 2012 Jan 3. Erratum In: PLoS One. 2012;7(9). ... for the neuronal ceroid lipofuscinoses. Neurology. 2012 Jul 10;79(2):183-91. ...
- ... 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 ...
- Genetic Brain Disorders (National Library of Medicine)A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...