PMC Links for OMIM (Select 204200) - PMC

Result Filters

Links from OMIM

Items: 11

Select item 41184971.

Novel CLN3 mutation causing autophagic vacuolar myopathy

Andrea Cortese, Arianna Tucci, Giovanni Piccolo, Carlo A. Galimberti, Pietro Fratta, Enrico Marchioni, Gianpiero Grampa, Cristina Cereda, Gaetano Grieco, Ivana Ricca, Alan Pittman, Patrizia Ciscato, Laura Napoli, Valeria Lucchini, Michela Ripolone, Raffaella Violano, Gigliola Fagiolari, Sara E. Mole, John Hardy, Arrigo Moglia, Maurizio Moggio

Neurology. 2014 Jun 10; 82(23): 2072–2076. doi: 10.1212/WNL.0000000000000490

Correction in:: Neurology. 2015 Feb 10; 84(6): 633.

PMCID:: PMC4118497

Article PDF–907K

Select item 19180642.

Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1.

T. J. Lerner, R. M. Boustany, K. MacCormack, J. Gleitsman, K. Schlumpf, X. O. Breakefield, J. F. Gusella, J. L. Haines

Am J Hum Genet. 1994 Jan; 54(1): 88–94.

PMCID:: PMC1918064

Article PDF–958K

Select item 18011713.

Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes.

H M Mitchison, A M O'Rawe, P E Taschner, L A Sandkuijl, P Santavuori, N de Vos, M H Breuning, S E Mole, R M Gardiner, I E Järvelä

Am J Hum Genet. 1995 Mar; 56(3): 654–662.

PMCID:: PMC1801171

Article PDF–1.3M

Select item 18011544.

Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).

P E Taschner, N de Vos, A D Thompson, D F Callen, N Doggett, S E Mole, T P Dooley, P G Barth, M H Breuning

Am J Hum Genet. 1995 Mar; 56(3): 663–668.

PMCID:: PMC1801154

Article PDF–1.2M

Select item 17159005.

Spectrum of mutations in the Batten disease gene, CLN3.

P B Munroe, H M Mitchison, A M O'Rawe, J W Anderson, R M Boustany, T J Lerner, P E Taschner, N de Vos, M H Breuning, R M Gardiner, S E Mole

Am J Hum Genet. 1997 Aug; 61(2): 310–316. doi: 10.1086/514846

PMCID:: PMC1715900

Article PDF–1.1M

Select item 17024066.

Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12

D. F. Callen, E. Baker, S. Lane, J. Nancarrow, A. Thompson, S. A. Whitmore, D. H. MacLennan, R. Berger, D. Cherif, I. Järvelä, L. Peltonen, G. R. Sutherland, R. M. Gardiner

Am J Hum Genet. 1991 Dec; 49(6): 1372–1377.