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Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.
Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME. Gao H, et al. Among authors: lerner tj. Am J Hum Genet. 2002 Feb;70(2):324-35. doi: 10.1086/338190. Epub 2001 Dec 21. Am J Hum Genet. 2002. PMID: 11791207 Free PMC article.
Microsatellite repeat polymorphism at the D16S366 locus.
Schultz EA, Callen DF, Doggett NA, Haines JL, Lerner TJ. Schultz EA, et al. Among authors: lerner tj. Hum Mol Genet. 1994 Sep;3(9):1713. doi: 10.1093/hmg/3.9.1713-a. Hum Mol Genet. 1994. PMID: 7833946 No abstract available.
Spectrum of mutations in the Batten disease gene, CLN3.
Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany RM, Lerner TJ, Taschner PE, de Vos N, Breuning MH, Gardiner RM, Mole SE. Munroe PB, et al. Among authors: lerner tj. Am J Hum Genet. 1997 Aug;61(2):310-6. doi: 10.1086/514846. Am J Hum Genet. 1997. PMID: 9311735 Free PMC article.
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.
Sleat DE, Gin RM, Sohar I, Wisniewski K, Sklower-Brooks S, Pullarkat RK, Palmer DN, Lerner TJ, Boustany RM, Uldall P, Siakotos AN, Donnelly RJ, Lobel P. Sleat DE, et al. Among authors: lerner tj. Am J Hum Genet. 1999 Jun;64(6):1511-23. doi: 10.1086/302427. Am J Hum Genet. 1999. PMID: 10330339 Free PMC article.
35 results