Results 1 -
10
of
22
for
Ceroid lipofuscinosis neuronal 1
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1 PubMed Getty AL, Pearce DA. Interactions of ...
- ... M, Anderson G, Green E, Mole SE. Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. Neurology. 2007 Jan 30;68(5):387-8. ...
- ... the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. Clin Genet. 2010 Jan;77(1):79-85. doi: 10.1111/j.1399-0004.2009.01285.x. Epub 2009 Oct 5. Citation on PubMed Williams RE, Mole ... scheme for the neuronal ceroid lipofuscinoses. Neurology. 2012 Jul 10;79(2): ...
- ... cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet. 2013 Apr 1;22(7):1417-23. doi: 10.1093/hmg/ ... and 8 other families. PLoS One. 2012;7(1):e29729. doi: ... for the neuronal ceroid lipofuscinoses. Neurology. 2012 Jul 10;79(2):183-91. ...
- ... the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. Clin Genet. 2010 Jan;77(1):79-85. doi: 10.1111/j.1399-0004.2009.01285.x. Epub 2009 Oct 5. Citation on PubMed ... neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological ...
- ... 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624. Epub ...
- ... 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624. Epub 2011 Nov 16. Citation on PubMed Siintola E, Partanen S, Stromme P, ... human neuronal ceroid-lipofuscinosis. Brain. 2006 Jun;129(Pt 6):1438-45. ...
- ... Adams J, Lee SY. Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. Exp Cell Res. 2015 Oct 15;338(1):45-53. doi: 10.1016/j.yexcr.2015. ...
- ... Adams J, Lee SY. Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. Exp Cell Res. 2015 Oct 15;338(1):45-53. doi: 10.1016/j.yexcr.2015. ...
- ... Lahtinen U, Anttonen AK, Lehesjoki AE. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet. 2007 Jul;81(1):136-46. doi: 10.1086/518902. Epub 2007 ...