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Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency
Eur Journal of Neurology 14: 369

Sitter B, Autti T, Tyynela J, Sonnewald U, Bathen TF, Puranen J, Santavuori P, Haltia MJ, Paetau A, Polvikoski T, Gribbestad IS, Hakkinen AM (2004)
High-resolution magic angle spinning and 1H magnetic resonance spectroscopy reveal significantly altered neuronal metabolite profiles in CLN1 but not in CLN3
Journal of Neuroscience Research 77: 762

Vanhanen SL, Raininko R, Autti T, Santavuori P (1995)
MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis. Part 2: MRI findings in 21 patients
Journal of Child Neurology 10: 444

Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L (1995)
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
Nature 376: 584

Jarvela I, Schleutker J, Haataja L, Santavuori P, Puhakka L, Manninen T, Palotie A, Sandkuijl LA, Renlund M, White R, et al. (1991)
Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1
Genomics 9: 170

Jarvela I, Santavuori P, Vesa J, Rapola J, Palotie A, Peltonen L (1991)
Assignment of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1) to the short arm of chromosome 1 (Abstract)
Cytogenet Cell Genet 58: 1856

Jokiaho I, Puhakka L, Santavuori P, Manninen T, Nyman K, Peltonen L (1990)
Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses
Genomics 8: 391

Santavuori P, Haltia M, Rapola J (1974)
Infantile type of so-called neuronal ceroid-lipofuscinosis
Dev Med Child Neurol 16: 644

Haltia M, Rapola J, Santavuori P, Keranen A (1973)
Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies
Journal of Neurology Sci 18: 269

Santavuori P, Haltia M, Rapola J, Raitta C (1973)
Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients
Journal of Neurology Sci 18: 257