Search Results - "Santavuori, P."

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease by CORMAND, B, PIHKO, H, VOIT, T, TOPALOGLU, H, DOBYNS, W. B, LEHESJOKI, A.-E, BAYES, M, VALANNE, L, SANTAVUORI, P, TALIM, B, GERSHONI-BARUCH, R, AHMAD, A, VAN BOKHOVEN, H, BRUNNER, H. G

“…Three rare autosomal recessive disorders share the combination of congenital muscular dystrophy and brain malformations including a neuronal migration defect:…”
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Ibuprofen or acetaminophen for the acute treatment of migraine in children : A double-blind, randomized, placebo-controlled, crossover study by HÄMÄLÄINEN, M. J, HOPPU, K, VALKEILA, E, SANTAVUORI, P

“…Efficacy of drugs for the acute treatment of migraine in children has not so far been studied in well controlled trials. We conducted a study to evaluate the…”
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Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis by Bäckman, M. L., Santavuori, P. R., Åberg, L. E., Aronen, E. T.

“…Background  Juvenile neuronal ceroid lipofuscinosis (JNCL) is one of the most common neurodegenerative disorders in childhood and adolescence. The clinical…”
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Muscle-eye-brain disease: a neuropathological study by Haltia, M, Leivo, I, Somer, H, Pihko, H, Paetau, A, Kivelä, T, Tarkkanen, A, Tomé, F, Engvall, E, Santavuori, P

“…A combination of congenital central nervous, ocular and muscular abnormalities is characteristic of muscle-eye-brain disease (MEB), of Fukuyama congenital…”
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Epilepsy and Antiepileptic Drug Therapy in Juvenile Neuronal Ceroid Lipofuscinosis by Åberg, L. E., Bäckman, M., Kirveskari, E., Santavuori, P.

“…Summary Purpose: To survey the characteristics of epilepsy in patients with juvenile neuronal ceroid lipofuscinosis (JNCL) and determine the antiepileptic drug…”
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Phenotype- genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5) by HOLMBERG, V, LAURONEN, L, AUTTI, T, SANTAVUORI, P, SAVUKOSKI, M, UVEBRANT, P, HOFMAN, I, PELTONEN, L, JÄRVELÄ, I

“…The authors analyzed the clinical phenotype, including MRI, of eight patients with Finnish variant late infantile neuronal ceroid lipofuscinosis (vLINCLFin;…”
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Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency by Kälviäinen, R., Eriksson, K., Losekoot, M., Sorri, I., Harvima, I., Santavuori, P., Järvelä, I., Autti, T., Vanninen, R., Salmenperä, T., Van Diggelen, O. P.

“…Accurate diagnosis, especially in progressive hereditary diseases, is essential for the treatment and genetic counseling of the patient and the family…”
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Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis by LONNQVIST, T, VANHANEN, S. L, VETTENRANTA, K, AUTTI, T, RAPOLA, J, SANTAVUORI, P, SAARINEN-PIHKALA, U. M

“…To study the effect of allogeneic hematopoietic stem cell transplantation (SCT) on the clinical course of infantile neuronal ceroid lipofuscinosis (INCL), a…”
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Neuronal ceroid lipofuscinoses in childhood by Santavuori, P, Lauronen, L, Kirveskari, E, Aberg, L, Sainio, K, Autti, T

“…NCL disorders are progressive brain diseases with an autosomal recessive inheritance in all eleven childhood types. These occur world-wide but may be enriched…”
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Lamotrigine Therapy in Juvenile Neuronal Ceroid Lipofuscinosis by Åberg, L., Kirveskari, E., Santavuori, P.

“…Purpose: To evaluate the effects of lamotrigine (LTG) therapy on epileptic seizures and general well‐being in patients with juvenile neuronal ceroid…”
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A Rapid Fluorogenic Palmitoyl-Protein Thioesterase Assay: Pre- and Postnatal Diagnosis of INCL by van Diggelen, O.P., Keulemans, J.L.M., Winchester, B., Hofman, I.L., Vanhanen, S.L., Santavuori, P., Voznyi, Y.V.

“…A deficiency of palmitoyl-protein thioesterase (PPT) was recently shown to be the primary defect in infantile neuronal ceroid lipofuscinosis (INCL). The…”
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Decreased striatal dopamine transporter density in JNCL patients with parkinsonian symptoms by ABERG, L, LIEWENDAHL, K, NIKKINEN, P, AUTTI, T, RINNE, J. O, SANTAVUORI, P

“…To explore whether striatal dopamine transporters are involved in juvenile neuronal ceroid lipofuscinosis (JNCL) with extrapyramidal signs. Seventeen patients…”
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Variant Late Infantile Neuronal Ceroid-lipofuscinosis: Pathology and Biochemistry by TYYNELÄ, J, SUOPANKI, J, SANTAVUORI, P, BAUMANN, M, HALTIA, M

“…The neuronal ceroid-lipofuscinoses (NCL) are among the most common inherited neurodegenerative disorders of childhood. The genomic defect causing a variant…”
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CSF insulin-like growth factor-1 in infantile neuronal ceroid lipofuscinosis by RIIKONEN, R, VANHANEN, S.-L, TYYNELÄ, J, SANTAVUORI, P, TURPEINEN, U

“…Infantile neuronal ceroid lipofuscinosis (INCL) is a progressive encephalopathy in which the patients are severely disabled by the age of 3 years. It is…”
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Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion) by Järvelä, I, Autti, T, Lamminranta, S, Aberg, L, Raininko, R, Santavuori, P

“…A total of 36 patients with Batten disease (juvenile-onset neuronal ceroid lipofuscinosis), homozygous or heterozygous for the major mutation, a 1.02-kb…”
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Enlarged SI and SII somatosensory evoked responses in the CLN5 form of neuronal ceroid lipofuscinosis by Lauronen, Leena, Huttunen, J., Kirveskari, E., Wikström, H., Sainio, K., Autti, T., Santavuori, P.

“…Objectives: To examine in detail the activation of the primary (SI) and secondary (SII) somatosensory cortex in CLN5, the Finnish variant of late infantile…”
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Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease by Vanhanen, S-L, Puranen, J, Autti, T, Raininko, R, Liewendahl, K, Nikkinen, P, Santavuori, P, Suominen, P, Vuori, K, Häkkinen, A-M

“…Infantile neuronal ceroid-lipofuscinosis (infantile CLN1) is a progressive and uniformly fatal lysosomal storage disease of the nervous system. The purpose of…”
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The age of human mutation : Genealogical and linkage disequilibrium analysis of the CLN5 mutation in the finnish population by VARILO, T, SAVUKOSKI, M, NORIO, R, SANTAVUORI, P, PELTONEN, L, JÄRVELÄ, I

“…Variant late infantile neuronal ceroid lipofuscinosis (vLINCL) is an autosomal recessive progressive encephalopathy of childhood enriched in the western part…”
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MRI of neuronal ceroid lipofuscinosis : I. Cranial MRI of 30 patients with juvenile neuronal ceroid lipofuscinosis by AUTTI, T, RAININKO, R, VANHANEN, S. L, SANTAVUORI, P

“…We studied 30 patients with juvenile neuronal ceroid lipofuscinosis (JNCL). The patients (aged 6-25 years) and 43 age-matched healthy volunteers underwent MRI…”
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Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders by Santavuori, Pirkko, Vanhanen, Sanna-Leena, Autti, Taina

“…Early diagnosis is mandatory for avoiding further cases in families with hereditary metabolic brain disorders. Thisreview lists the most important clinical…”
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