Studies of atypical JNCL suggest overlapping with other NCL forms

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

Jouni Vesa, Elina Hellsten, Linda A. Verkruyse et al. · Nature · 1995 · 740 citations

Life Sciences, Genetics, Neuroscience +13

Isolation of a novel gene underlying batten disease, CLN3

Terry J. Lerner, Rose‐Mary Boustany, John W. Anderson et al. · Cell · 1995 · 602 citations · Full text

Life Sciences, Genetics, Molecular Genetics +3

Association of Mutations in a Lysosomal Protein with Classical Late-Infantile Neuronal Ceroid Lipofuscinosis

David E. Sleat, Robert Donnelly, Henry Lackland et al. · Science · 1997 · 583 citations

Life Sciences, Genetics, Neuroscience +15

Spectrum of Mutations in the Batten Disease Gene, CLN3

Patricia B. Munroe, Hannah M. Mitchison, Angela O'Rawe et al. · The American Journal of Human Genetics · 1997 · 206 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

Amit Kumar Das, Carlos Becerra, Weijie Yi et al. · Journal of Clinical Investigation · 1998 · 156 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17