Mutational Analysis of the Defective Protease in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis, a Neurodegenerative Lysosomal Storage Disorder

Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency

Bruce D. Gelb, Guo‐Ping Shi, Harold A. Chapman et al. · Science · 1996 · 1K citations

Medicine, Genetics, Molecular Genetics +17

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

Mitochondrial ATP synthase subunit <i>c</i> storage in the ceroid‐lipofuscinoses (Batten disease)

David N. Palmer, Ian M. Fearnley, John E. Walker et al. · American Journal of Medical Genetics · 1992 · 365 citations

Life Sciences, Biochemistry, Molecular Biology +15