Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis von Vesa, Jouni, Hellsten, Elina, Verkruyse, Linda A., Camp, Laura A., Rapola, Juhani, Santavuori, Pirkko, Hofmann, Sandra L., Peltonen, Leena

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Rapid and simple assay for the determination of tripeptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots von Lukacs, Zoltan, Santavuori, Pirkko, Keil, Angelika, Steinfeld, Robert, Kohlschütter, Alfried

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EEG and evoked potentials in infantile neuronal ceroid‐lipofuscinosis von Vanhanen, Sanna‐Leena, Sainio, Kimmo, Lappi, Marjatta, Santavuori, Pirkko

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Ibuprofen or acetaminophen for the acute treatment of migraine in children : A double-blind, randomized, placebo-controlled, crossover study von HÄMÄLÄINEN, M. J, HOPPU, K, VALKEILA, E, SANTAVUORI, P

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Hyperandrogenism in girls with juvenile neuronal ceroid lipofuscinosis von ÅBERG, LAURA E, TIITINEN, AILA, AUTTI, TAINA H, KIVISAARI, LEENA, SANTAVUORI, PIRKKO R

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CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis von Savukoski, Minna, Klockars, Tuomas, Holmberg, Ville, Santavuori, Pirkko, Lander, Eric S., Peltonen, Leena

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Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study von Pihko, Helena, Lappi, Marjatta, Raitta, Christina, Sainio, Kimmo, Valanne, Leena, Somer, Hannu, Santavuori, Pirkko

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West syndrome: individualized ACTH therapy von Heiskala, Hannu, Riikonen, Raili, Santavuori, Pirkko, Simell, Olli, Airaksinen, Eila, Nuutila, Auli, Perheentupa, Jaakko

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Neuronal ceroid-lipofuscinoses in childhood von Santavuori, Pirkko

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Sumatriptan for migraine attacks in children : A randomized placebo-controlled study do children with migraine respond to oral sumatriptan differently from adults? von HÄMÄLÄINEN, M. L, HOPPU, K, SANTAVUORI, P

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Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping von Cormand, Bru, Avela, Kristiina, Pihko, Helena, Santavuori, Pirkko, Talim, Beril, Topaloglu, Haluk, de la Chapelle, Albert, Lehesjoki, Anna-Elina

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Phenotype- genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5) von HOLMBERG, V, LAURONEN, L, AUTTI, T, SANTAVUORI, P, SAVUKOSKI, M, UVEBRANT, P, HOFMAN, I, PELTONEN, L, JÄRVELÄ, I

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Clinical and magnetic resonance imaging findings in batten disease: Analysis of the major mutation (1.02-kb deletion) von Järvelä, Irma, Autti, Taina, Lamminranta, Sirkka, Åberg, Laura, Raininko, Raili, Santavuori, Pirkko

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Rapid and simple assay for the determination of tri-peptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots von LUKACS, Zoltan, SANTAVUORI, Pirkko, KEIL, Angelika, STEINFELD, Robert, KOHLSCHÜTTER, Alfried

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Sleep and Its Disturbance in a Variant Form of Late Infantile Neuronal Ceroid Lipofuscinosis (CLNS) von Kirveskari, Erika, Partinen, Markku, Santavuori, Pirkko

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Management of NCL patients von Santavuori, Pirkko

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Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders von Santavuori, Pirkko, Vanhanen, Sanna-Leena, Autti, Taina

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Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses von SAVUKOSKI, M, KESTILÄ, M, WILLIAMS, R, JÄRVELÄ, I, SHARP, J, HARRIS, J, SANTAVUORI, P, GARDINER, M, PELTONEN, L

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High‐resolution magic angle spinning and 1 H magnetic resonance spectroscopy reveal significantly altered neuronal metabolite profiles in CLN1 but not in CLN3 von Sitter, Beathe, Autti, Taina, Tyynelä, Jaana, Sonnewald, Ursula, Bathen, Tone F., Puranen, Johanna, Santavuori, Pirkko, Haltia, Matti J., Paetau, Anders, Polvikoski, Tuomo, Gribbestad, Ingrid S., Häkkinen, Anna‐Maija

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A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis von ABERG, Laura E, RINNE, Juha O, RAJANTIE, Irmeli, SANTAVUORI, Pirkko

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