Atypical juvenile neuronal ceroid liposfuscinosis with granular osmiophilic deposit-like inclusions in the autonomic nerve cells of the gut wall

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

Molecular Basis of Different Forms of Metachromatic Leukodystrophy

Andreas Polten, Arvan L. Fluharty, Claire B. Fluharty et al. · New England Journal of Medicine · 1991 · 298 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23

Julia L. Sharp · Human Molecular Genetics · 1997 · 191 citations

Life Sciences, Genetics, Molecular Genetics +16

Fetal Alcohol Syndrome: A Case Report of Neuropsychological, MRI, and EEG Assessment of Two Children

Sarah N. Mattson, Edward P. Riley, Terry L. Jernigan et al. · Alcoholism Clinical and Experimental Research · 1992 · 160 citations · Full text

Medicine, Neurology, Neuroscience +17