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Haltia M. , Rapola J. , Santavuori P. , Keränen A. : Infantile type of so-called neuronal ceroid-lipofuscinosis. Part 2. Morphological and biochemical studies . J Neurol Sci1973 ;18: 269-285 .
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Haltia M. , Rapola J. , Santavuori P. : Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies . Acta Neuropathol (Berl)1973;26: 157-170 .
4.
Santavuori P. : EEG in infantile type of so-called neuronal ceroid-lipofuscinosis . Neuropädiatrie1973 ;4: 375-387 .
5.
Raitta C. , Santavuori P. : Ophthalmological findings in infantile type of so-called neuronal ceroid-lipofuscinosis . Acta Ophthalmol1973 ;51: 755-763 .
6.
Santavuori P. , Haltia M. , Rapola J. : Infantile type of so called neuronal ceroid-lipofuscinosis . Dev Med Child Neurol1974;16: 644-653 .
7.
Santavuori P. , Erkkilä H. : Neurologic and developmental findings in children with optic disc drusen . Neuropädiatrie1976;7: 283-301 .
8.
Santavuori P. , Moren R. : Experience of antioxidant treatment in neuronal ceroid-lipofuscinosis of Spielmeyer-Sjögren type . Neuropädiatrie1977;8: 333-344 .
9.
Arsalo A. , Louhimo I. , Santavuori P. , Valtonen S. : Subdural effusion: Results after treatment with subdural-pleural shunts . Childs Brain1977;3: 79 .
10.
Granström M-L. , Leinikki P. , Santavuori P. , Pettay O. : Perinatal cytomegalovirus infection in man . Arch Dis Child1977:52: 354 .
11.
Raitta C. , Lamminen M. , Santavuori P. : Ophthalmological findings in a new syndrome with muscle, eye and brain involvement . Acta Ophthalmol1978;56: 465-472 .
12.
Leinikki P. , Granström M-L. , Santavuori P.Pettay O. : Epidemiology of cytomegalovirus infection in early childhood . Scand J Infect Dis1978 ;10: 165-171 .
13.
Samavuori P.Leisti J.Kruus S.Raitta C. : Muscle, eye and brain disease: A new syndrome . Docum Ophthal Proc Series1978:17: 393-396 .
14.
Marklund SLSantavuori P.Wesiermarck T. : Superoxide dismutase. catalase and glutathione peroxidase in infantile, late infantile and juvenile neuronal ceroid-lipofuscinosis . Clin Chim Acta1981:116: 191-198 .
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Hoppu K. Santavuori P : Diazepam rectal solution for home treatment of acute seizures in children . Acta Paediatr Scand1981:70: 369-372 .
16.
Santavuori P.Rapola J.Sainio K.Raitta C. : A variant of Jansky-Bielschowsky disease . Neuropediatrics1982:13: 135-141 .
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Westermarck T. , Santavuori P. , Marklund S. , et al: Studies of effects of selenium administration to neuronal ceroid-lipofuscinosis patients with special reference to reduced glutathione, in Armstrong D , Koppang N , Rider JA (eds): Ceroid-Lipofuscinosis (Batten's Disease), vol 32. Amsterdam , Elsevier Biomedical Press , 1982 , 399-405.
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Virtanen M. , Mäenpää J. , Santavuori P. , et al: Congenital hypothyroidism: Ages at start or treatment versus outcome . Acta Paediatr Scand1983;72: 197-201 .
20.
Rantala S-L. , Santavuori P. , Erkkilä H. , Riska T-B. : Foniatric and neurological findings in children with optic disc drusen . Folia Phoniatr1983;35: 316-321 .
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Santavuori P. : Absence seizures: Valproate or ethosuximide . Acta Neurol Scand1983;68(Suppl 97): 41-48 .
22.
Rapola J. , Santavuori P. , Savilahti E. : Suction biopsy of rectal mucosa in the diagnosis of infantile and juvenile types of ceroid-lipofuscinosis . Hum Pathol1984;15: 352-360 .
23.
Westermarck T. , Santavuori P. : Principles of antioxidant therapy in neuronal ceroid lipofuscinosis . Med Biol1984;62: 148-151 .
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Santavuori P. , Westermarck T. : Antioxidant therapy in neuronal-ceroid lipofuscinosis . Med Biol1984;62: 152-153 .
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Johansson E. , Lindh U. , Alanen T. , et al: Elemental profiles in blood cells in certain neurological disorders . Med Biol1984;62: 139-142 .
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Santavuori P. , Westermarck T. , Rapola J. , et al: Antioxidant treatment in Spielemeyer-Sjögren's disease . Acta Neurol Scand1985;71: 136-145 .
27.
Marklund S. , Heiskala H. , Westermarck T. , Santavuori P. : Superoxide dismutase isoenzymes in cerebrospinal fluid and plasma from patients with neuronal ceroid-lipofuscinoses . Clin Sci1986;71: 57-60 .
28.
Wolfe LS , Palo J. , Santavuori P. , et al: Urinary sediment dolichols in the diagnosis of neuronal ceroid-lipofuscinosis . Ann Neurol1986; 19: 270-274 .
29.
Svennerholm L. , Fredman P. , Jungbjer B. , et al: Large alterations in ganglioside and neutral glycosphingolipid pattern in brains from cases with infantile neuronal ceroid lipofuscinosis/polysaturated fatty acid lipidosis . J Neurochem1987;49: 1772-1783 .
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Rapola J. , Santavuori P. , Heiskala H. : Placental pathology and prenatal diagnosis of infantile type of neuronal ceroid-lipofuscinosis . Am J Med Genet1988 ;5: 99-103 .
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Heiskala H. , Gutteridge Jmc , Westermarck T. , et al: Bleomycin-detectable iron and phenanthroline-detectable copper in the cerebrospinal fluid of patients with neuronal ceroid-lipofuscinoses . Am J Med Genet1988;5: 193-202 .
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Santavuori P. , Heiskala H. Westermarck T , et al: Experience over 17 years with antioxidant treatment in Spielmeyer-Sjögren disease . Am JMed Genet1988;5: 265-274 .
33.
Goebel HHKlein H. , Santavuori P.Sainio K. : Lltrastructural studies of the retina in infantile neuronal ceroid-lipofuscinosis . Retina1988;8: 59-66 .
34.
Riikonen R. , Santavuori P. , Meretoja O. , et al: Can barbiturate anesthesia cure infantile spasm?Brain Dev1988;10: 300-304 .
35.
Virtanen M. , Santavuori P.Hirvonen P.Perheentupa J. : Multivariate analysis of psychomotor development in congenital hypothyroidism . Acta Pediatr Scand2004; in press.
36.
Riikonen R.Simell O.Dunkel L. et al: Hormonal background of the hypertension and fluid derangements associated with ACTH therapy of infants . Eur J Pediatr1989;148: 737-741 .
37.
Santavuori P. , Somer H. , Sainio K. , et al: Muscle-eye-brain disease (MEB) . Bra in Dev1989;11: 147-153 .
38.
Santavuori P. Heiskala H , Autti T. , et al: Comparison of the clinical course in patients with juvenile neuronal ceroid lipofuscinosis receiving antioxidant treatment and those without anti-oxidant treatment . Adv Exp Med Biol1989;266: 273-282 .
39.
Raininko R. , Santavuori P. , Heiskala H. , et al: CT findings in neuronal ceroid lipofuscinoses . Neuropediatrics1990;21: 95-101 .
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Jokiaho I. , Puhakka L. , Santavuori P. , et al: Infantile neuronal ceroid lipofuscinosis (LNCL) is not an allelic form of Batten's disease: Exclusion of chromosome 16 region with linkage analyses . Genomics1990; 8: 391-393 .
41.
Rapola J. , Salonen R. , Ämmälä P. , Santavuori P. : Prenatal diagnosis of infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi . Prenat Diagn1990;10: 553-559 .
42.
Santavuori P. , Rapola J. , Nuutila A. , et al: The spectrum of Jansky-Bielschowsky disease . Neuropediatrics1991;22: 92-96 .
43.
Bardy AH , Seppälä T. , Salokorpi T. , et al: Monitoring of concentrations of clobazam and norclobazam in serum and saliva of children with epilepsy . Brain Dev1991 ;13: 174-179 .
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Järvelä I. , Santavuori P. , Puhakka L. , et al: Linkage map of the chromosomal region surrounding the infantile neuronal ceroid lipofuscinosis (INCL) locus at 1p . Am J Med Genet1992;42: 546-548 .
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56.
Järvelä I. , Salo MK , Santavuori P. , Salonen RK : 46, XX/69, XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty . J Med Genet1993;30: 966-967 .
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Vanhanen SL , Raininko R. , Santavuori P. : Early differential diagnosis of infantile neuronal ceroid lipofuscinosis (INCL), Rett syndrome and Krabbe's disease by CT and MRI . AJNR Am J Neuroradiol1994;15: 1443-1453 .
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Heiskala H. , Riikonen R. , Santavuori P. , et al: Infantile spasms: Individualized optimal ACTH therapy . Brain Dev1996;18: 456-460 .
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62.
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63.
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66.
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70.
Majander A. , Pihko H. , Santavuori P. : Palmitate oxidation in muscle mitochondria of JNCL patients . Am J Med Genet1995;57: 298-300 .
71.
Riikonen R. , Santavuori P. : Hereditary and acquired risk factors for childhood stroke . Neuropediatrics1994 ;25: 227-233 .
72.
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75.
Hämäläinen ML , Hoppu K. , Santavuori P. : Effect of age on the fulfilment of the IHS criteria for migraine in children at a headache clinic . Cephalalgia1995;15: 404-409 .
76.
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Hämäläinen ML , Autti T. , Salonen O. , Santavuori P. : Brain MRI in migraine: A controlled morphometric study . Cephalalgia1996; 16: 541-544 .
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85.
Autti T. , Santavuori P. Raininko R , et al: Benefits from bone marrow transplantation in aspartylglucosaminuria: MRI of the brain suggests normalizing myelination . Lancet1997;349: 1366-1367 .
86.
Järvelä I. , Autti T. , Lamminranta S. , et al: Clinical and magnetic resonance imaging findings in Batten disease: Analysis of the major mutation 8 1.02 Kb deletion . Ann Neurol1997;42: 799-802 .
87.
Hämäläinen ML , Hoppu K. , Santavuori P. : Oral dihydroergotamine for therapy resistant migraine attacks in children . Pediatr Neurol1997;16: 114-117 .
88.
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94.
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Westermarck T. , Åberg L. , Santavuori P. , et al: Evalution of the possible role of coenzyme Q10 and vitamin E in juvenile neuronal ceroid lipofuscinosis (JNCL) . Mol Aspects Med1997 ;18(Suppl): S259-S262 .
97.
Autti T. , Raininko R. , Haltia M. , et al: Aspartylglucosaminuria: Radiologic course of the disease with histopathologic correlation . J Child Neurol1997;12: 369-375 .
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99.
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100.
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102.
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103.
Hätönen T. , Kirveskari K. , Heiskala H. , et al: Melatonin ineffective in neuronal ceroid-liposfuscinosis patients with fragmented or normal motor activity rhythm recorded by wrist actigraphy . Mol Gen Metab1999: 66: 401-406 .
104.
Autti T.Muttilainen M.Raininko R. et al: Extensive cerebral white matter abnoimality but without clinical symptoms—A new hereditay condition . Ann Neurol1999:45: 801-805 .
105.
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106.
Autti T. , Rapola J.Santavuori P. et al: Bone marrow transplantation in aspartylglucosaminuria: Histopathological and MRI study . Neuropediatrics1999:30: 283-288 .
107.
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108.
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112.
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114.
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116.
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117.
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118.
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119.
Lauronen L. , Santavuori P. , Hirvasniemi A. , et al: Northern epilepsy syndrome (NES, CLN8)—MRI and electrophysiological studies . Eur J Paediatr Neurol2001;5(Suppl A): 167-173 .
120.
Åberg L. , Rinne J. , Rajantie I. , Santavuori P. : A favourable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis . Neurology2001;56: 1236-1239 .
121.
Fahnehjelm KT , Ygge J. , Engman ML , et al: A child with muscle-eye-brain disease: Ophthalmological and neurological characteristics . Acta Ophthalmol Scand2001;79: 72-75 .
122.
Lamminranta S. Åberg L , Autti T. , et al: Neuropsychological test battery in the follow-up of patients with juvenile neuronal ceroid lipofuscinosis . J Intellect Disabil Res2001:45: 8-17 .
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Kirveskari E. Partinen M.Santavuori P: Sleep and its disturbance in a variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) . J Child Neurol2001;16: 707-713 .
124.
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126.
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