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Annals of Neurology|August 17, 2001
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood diseaseO P van Diggelen, S Thobois, C Tilikete, et al.
Neuropediatrics|February 1, 1997
Strategy for mutation detection in CLN3: characterisation of two Finnish mutationsP B Munroe, A M O'Rawe, H M Mitchison, et al.
American Journal of Human Genetics|March 1, 1995
Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease)P E Taschner, N de Vos, A D Thompson, et al.
American Journal of Medical Genetics|June 5, 1995
Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic depositsH M Mitchison, A M O'Rawe, T J Lerner, et al.
Genomics|July 15, 1994
Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic associationH M Mitchison, P E Taschner, A M O'Rawe, et al.
American Journal of Human Genetics|March 1, 1995
Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypesH M Mitchison, A M O'Rawe, P E Taschner, et al.
Pediatric Nephrology (Berlin, Germany)|August 1, 1996
Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch familiesH H Lemmink, L P van den Heuvel, H A van Dijk, et al.
Genomics|September 20, 1995
YAC and cosmid contigs spanning the Batten disease (CLN3) region at 16p12.1-p11.2I E Järvelä, H M Mitchison, A M O'Rawe, et al.
Molecular Genetics and Metabolism|April 7, 1999
A murine model for juvenile NCL: gene targeting of mouse Cln3N D Greene, D L Bernard, P E Taschner, et al.
Molecular Genetics and Metabolism|April 7, 1999
The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in ScotlandJ B Stephenson, N D Greene, K Y Leung, et al.
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