Autio S. Aspartylglucosaminuria. Analysis of thirty-four patients. J Ment Defic Res, Monorg Ser I, 1972

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1 1 VÄITÖSKIRJATYÖT Academic dissertations Palo J. Eräiden aineenvaihduntahäiriöiden esiintyminen keskushermoston kehitysvauriotapauksissa; tutkimus 2177 suomalaisesta vajaamielisestä henkilöstä. Väitöskirja, Helsinki 1966 Viukari N. M. A. Diphenylhydantoin in the treatment of mentally subnormal epileptics, concentrations of diphenylhydantoin in serum and cerebrospinal fluid and the main electrolytes. Thesis, Univ. of Helsinki, Helsinki 1970 Autio S. Aspartylglucosaminuria. Analysis of thirty-four patients. J Ment Defic Res, Monorg Ser I, 1972 Airaksinen E. M. Tryptophan and 5-hydroxytryptamine in Down s syndrome. Väitöskirja, Helsinki 1973 Savolainen H. Studies on human neural proteins whit special reference to maturation. Väitöskirja. Helsinki 1973 Iivanainen M. A study on the origins of mental retardation. Clinics in Developmental Medicine No. 51. Spastics International Medical Publications in association with William Heinemann Medical Books Ltd., London, and J.B. Lippincott Co., Philadelphia 1974 Santavuori P. Varhaislapsuuden neuronaalinen seroidilipofuskinoosi. Väitöskirja. Helsinki 1974 Tevaluoto-Aarnio M. Epidemiology of hepatits B surface antigen, antibody and acute hepatitis in Finnish institutions for the mentally retarded. Väitöskirja. Helsinki 1975 Granroth G. Risk indicators for defects of the central nervous system. Väitöskirja. Helsinki 1978 Knuutila S. Human bone marrow in the study of cytogenetic abnormalities. Väitöskirja. Helsinki 1979 Westermarck T. Studies on selenium in the Finnish population with special reference to patients whit neuronal ceroid lipofuscinosis. Väitöskirja. Helsinki 1979 Riikonen R. Infantiili-spasmi-oireyhtymä lapsilla. Tutkimus

2 2 214:stä vuosina syntyneestä potilaasta. Väitöskirja, Helsingin yliopisto, Helsinki Simola K. X-linked mental retardation with the marker X chromosome - a clinical and cytogenetic study. Academic dissertation, University of Helsinki, Helsinki Salonen R. The Meckel and hydrolethalus syndromes. Diagnostic, genetic and epidemiological studies. Academic dissertation, University of Helsinki, Helsinki Halmesmäki E. Alcohol consumption in pregnancy. Academic dissertation, University of Helsinki, Helsinki Lindahl E. Nine-year follow-up of high-risk neonates. Academic dissertation, University of Helsinki, Helsinki Romanov K. Äidin alkoholinkäytön haitat sikiölle ja vastasyntyneelle. Väitöskirja, Helsingin Yliopisto, Helsinki Tenovuo A. The Small-for-gestational age infant. Perinatal risk factors and follow-up in infancy. Academic dissertation, University of Turku, Turku Virkola K. The lateral ventricle in early infancy. Academic dissertation, University of Helsinki, Helsinki Kähkönen M. Population cytogenetics of folate sensitive fragile sites with special reference to mental retardation. Academic dissertation, University of Helsinki, Helsinki Paetau A. Intermediate filaments and fibronectin in cells of glial origin. Academic dissertation, University of Helsinki, Helsinki Telakivi T. Breathing disturbance during sleep in adults. Academic dissertation, University of Helsinki, Helsinki Gaily E. Development and growth in children of epileptic mothers. A prospective controlled study. Academic dissertation, University of Helsinki, Helsinki Tokola R. Studies on drug absorption and efficacy in migraine attacks with special reference to tolfenamic acid and paracetamol. Academic dissertation, University of Helsinki, Helsinki Järvelä I. Molecular distinction of neuronal ceroid lipofuscinoses: assignment of separate gene loci for infantile and juvenile forms. Academic dissertation, Publications of the National Public Health Institute NPHI A2/1991.

3 3 Ikonen E. Molecular genetics of aspartylglucosaminuria. Academic dissertation, Publications of the National Public Health Institute NPHI A2/1992. Wessman M. Clinical applications of non-radioactive in situ hybridization. Academic dissertation, University of Helsinki, Helsinki Arvio M. Life with aspartylglucosaminuria. Academic dissertation, University of Helsinki, Lammi Autti-Rämö I. The outcome of children exposed to alcohol in utero. A prospective follow-up study during the first three years. Academic dissertation, Helsinki Huovinen K. Gynecological problems of mentally retarded women, with special reference to progestin-induced therapeutic amenorrhea. Academic dissertation, Helsinki Korpela R. The use of technical aids by disabled children. Academic dissertation, University of Tampere, Tampere Louhiala P. Kehitysvammaisuuden perinataaliset tekijät. Väitöskirja, STAKES tutkimuksia 30, Helsinki Somer M. The PEHO syndrome. Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy. Academic dissertation, Helsinki Enomaa N. Aspartylglucosaminuria: molecular pathogenesis and in vitro correction of the enzyme defect. Academic dissertation, Helsinki Lappalainen M. Toxoplasma infections during pregnancy. Academic dissertation, University of Helsinki, Helsinki Schleutker J. Linkage disequilibrium in Salla disease; positioning of the sialic acid transport defect. Academic dissertation, University of Turku, Turku Taanila A. Factors supporting the coping process in parents with chronically ill or disabled children, University of Oulu, Oulu Heiskala H. West and Lennox-Gastaut syndromes; clinical and epidemiologic correlates of intractability. University of Helsinki, Helsinki, Finland Uusitalo A. Aspartylglucosaminuria: disease pathogenesis, developmental expression and regulation of the aspartylglucosaminidase gene. University of Helsinki, Helsinki, Finland Vanhala R. Rett syndrome. A search for etiopathogenetic factors. University of Helsinki, Finland, Helsinki Santalahti P. Prenatal scheerning in Finland. Availability and Women s Decision-

4 4 Making and Experie. University of Turku, Finland Raitasuo S. Psychiatric inpatient care for the mentally retarded. A prospective study in the specialist unit in the special welfare district of southwest Finland. University of Turku, Finland Arvio P. Aspartylglucosaminuria (AGU): Oral health, orofacial features, and general growth. University of Helsinki, Finland, Helsinki Pöyhönen M. Epidemiological, Clinical and Genetic aspects of neurofibromatoses in northern Finland. Department of Clinical Genetics, University of Oulu University Hospital, and Department of Medical Genetics, Väestöliitto, The Family Federation of Finland, Oulu Avela K. Positional cloning of the Mulibrey Nanism gene (MUL). Academic dissertation, University of Helsinki, Helsinki 2000.(T) Kirveskari E. Circardian rhythms and sleep in neuronal ceroid lipofuscinoses. Academic dissertation, University of Helsinki, Helsinki 2000.(T) Åberg L: Juvenile neuronal ceroid lipofuscinosis; Brain related symptoms and their treatment. Academic dissertation, University of Helsinki, Helsinki Patja K. Life expectancy and mortality in intellectual disability. Academic dissertation, University of Helsinki, Helsinki: FAMR Research Publications 2001;81. (T) Sajaniemi N. Keskosten käyttäytyminen, kognitiiviset toiminta edellytykset ja niihin vaikuttaminen. Väitöskirja, Helsingin Yliopisto, Helsinki (T) Numminen H. Working memory in adults with intellectual disability. FAMR Research Publications 85/ Finnish Association on Mental Retardation. Helsinki 2002 Yliherva A. Ennenaikaisina ja pienipainoisina syntyneiden lasten puheen- ja kielenkehityksen taso kahdeksan vuoden iässä. Pohjoissuomalainen syntymäkohortti Suomen ja saamen kielen ja logopedian laitos, Kansanterveystieteen ja yleislääketieteenlaitos, Lastentautien klinikka, Oulun yliopisto, Oulu 2002 Lindblom N. Correlates of disordered sleep in mentally retarded people and a preliminary evaluation of therapeutic potential of skin light exposure. Helsingin yliopisto, Helsinki 2002.(T) Isosomppi J. Molecular and cell biology of infantile (CLN1) and variant late infantile (CLN5) neuronal ceroid lipofuscinoses, Department of Molecular Mrdicine, National Public Heath Institute, Helsinki, Finland and Department of Medical Genetics, Univesity of Helsinki Finland, 2003 Salo M.

5 5 Kasvatuksellinen Reaaliteettiperiaate. Välitätkö auktriteettia vai väärää syyllisyyttä? Helsingin yliopiston kasvatustieteen laitoksen tutkimuksia 194, Helsinki 2004 Hänninen K. Kohtaamisen kokemuksia epävarmuuden näyttämöllä. Kokemuksellinen ensitieto vammaisen lapsen syntyessä. Helsingin yliopisto, STAKES, Tutkimuksia 147, Helsinki (T) Salo M. Kasvatuksellinen Realiteettiperiaate. Välitätkö auktoriteettia vai väärää syyllisyyttä? Helsingin yliopisto, Kasvatustieteen laitoksen tutkimuksia 194, Helsinki (T) Koskentausta T. Psychiatric disturbances in children with intellectual disability. Prevalence, risk factors and assessment. Väitöskirja, Helsingin yliopisto, Helsinki Alakuijala A. Expression of functionl gaba c receptors in the brain. Institute of Biomedicine, Department of Pharmacology, and Institute of Biotechnology, University of Helsinki, Finland. Finnish Graduate School of Neuroscience. Helsinki (T) Pruuki H. Kuka on potilas? Suomalaisen sikiöseulontakäytännön sosiaalieettistä tarkastelua. Helsingin yliopisto, teologinen tiedekunta, systemaattisen teologian laitos (T) Ahponen H. Vaikeavammaisen nuoren aikuistuminen. Yksilöllinen ja erilainen elämänkulku. Helsinki: Kelan tutkimusosasto, Sosiaali- ja terveysturvan tutkimuksia (T) Heikura U. Intellectual disability in the northern Finland birth cohort Oulu: Oulun yliopisto (T) Lyly A. Molecular interactions underlying neuronal ceroid lipofuscinoses CLN1 and CLN5. Helsinki: National Public Health Institute and University of Helsinki, Faculty of Medicine (T) Mannerkoski M. Children and adolescents in full-time special education. An epidemiological and magnetic resonance imaging study. University of Helsinki, Faculty of Medicine, Institute of Clinical Medicine, Division of Child Neurology; Helsinki Medical Imaging Center. Helsinki: Yliopistopaino Maunu J. The vulnerable brain and very preterm infants findings from the PIPARI-study. The Department of Pediatric Neurology, University of Turku,Turku T

6 6 Virta M. ADHD-aikuisten psykologinen kuntoutus. Neljän uuden lyhytintervention tutkimus. Käyttäytymistieteellinen tiedekunta, Helsingin yliopisto. Helsinki T Määttä Tuomo: Down syndrome, health and disability. A population-based case record and follow-up study. University of Oulu, Faculty of Medicine Oulu: Acta Universitatis Ouluensis. D Medica 1141, (T) Kantojärvi K. Exploring Genetic Susceptibility to Autism Spectrum Disorders. University of Helsinki, (T) Törölä H. Vocalisation and feeding skills in extremely preterm infants. An intensive followup from birth to first word and first step. Acta Univ. Oul. B 110, (T) TIETEELLISET TUTKIMUKSET, ESITELMÄLYHENTEET JA KATSAUKSET Original articles, abstracts and reviews 1981 Aula P, Raivio K, Maury P. Variation of urinary exretion of aspartyl glucosamine and associated clinical findings in aspartylglycosaminuria. J Inher Metab Dis 1980;3: Granström M-L. Finska barns prestationer vid grovmotoriska, finmotoriska och språkliga uppgifter. Nordiska Neuropediatriska Säl Iskapet 1981;abstr. Hiilesmaa VK, Teramo K, Granström M-L, Bardy AH. Fetal head growth retardation associated with maternal antiepileptic drugs. Lancet 1981;II: Iivanainen M. Moyamoya disease (spontaneous occlusion of the circle of Willis). Kirjassa: Vinken PJ, Bruyn GW, toim. Handbook of Clinical Neurology. Vol 42, Neurogenic Directory, Part 1, toim. N C Myrianthopoulos. North-Holland Publ Co, Amsterdam 1981; Iivanainen M. Neurological examination of the mentally retarded child. Evidence of central nervous system abnormality. Kirjassa: Cooper B, toim. Assessing the Handicaps and Needs of Mentally Retarded Children. Academic Press, London 1981; Kähkönen M, Leisti J, Wilska M, Westermarck T. X-linked mental

7 7 retardation with marker X chromosome. Clin Genet 1981;19:512. Kähkönen M, Leisti J, Wilska M, Varonen S. Marker X-linked mental retardation in 100 institutionalized retarded males. The 6th International Congress of Human Genetics 1981;abstr.47. Luisto M, Möller K, Nuutila A, Palo J. Dantrolene sodium in chronic spasticity of varying etiology. A double-blind study. Acta Neurol Scand Marklund SL, Santavuori P, Westermarck T. Superoxide dismutase, catalase and glutathione peroxidase in infantile, late infantile and juvenile neuronal ceroid-lipofuscinosis. Clin Chim Acta 1981;116: Maury P. Urinary sialoglycoconjugate levels in aspartylglycosaminuria. Clin Chim Acta 1981;109: Maury P. Detection of aspartylglycosaminuria by gas chromatography. Clin Chem 1981;27: Maury P, Haltia M, Palo J. Regional distribution of glycosasparagine storage material in the brain in aspartylglycosaminuria. J Neurol Sci 1981;50: Palo J, Elovaara I, Haltia M, Paetau A. Isolation and preliminary characterization of human CNS fractions related to various types of dementia. 12th World Congress of Neurology. Excerpta Medica, Amsterdam 1981;abstr.82. Riikonen R. Infantiili-spasmi-oireyhtymä lapsilla. Tutkimus 214:stä vuosina syntyneestä potilaasta. Väitöskirja, Helsingin yliopisto, Helsinki Riikonen R, Amnel G. Psychiatric Disorders in Children with Earlier Infantile Spasms. Develop Med Child Neurol 1981;23: Salonen R, Herva R, Norio R. The hydrolethalus syndrome, delineationof a "new", lethal malformation syndrome based on 28 patients. Clin Genet 1981;19: Salonen R, Herva R, Norio R. Hydroletalussyndrooma, "uusi" suomalainen epämuodostumaoireyhtymä. Duodecim 1981;97: Santavuori P, Westermarck T, Morén R. Antioxidant therapy in Spielmeyer-Sjögrens disease. Neuropediatrics 1981;12 Suppl: Santavuori P, Sainio K, Rapola J, Raitta C. A variant of Jansky- Bielschowsky disease. Neuropediatrics 1981;12 Suppl: 444. Westermarck T, Rahola T, Suomela M. Selenium (Se) retention and biological half-life (T ½ ) in patients with Duchenne muscular dystrophy. Mineral Elements '80. Proceedings, Helsinki 1981;

8 8 Westermarck T, Rahola T, Suomela M, Kallio A-K. Selenium biological half-life in some human diseases. Fourth International Symposium on Trace Element Metabolism in Man and Animals 1981;abstr.72. Westermarck T, Rahola T, Suomela M, Salmi A. Distribution of administered selenite- 75 Se in patients with muscular dystrophy. New Zealand Workshop on Trace Elements in New Zealand, 1981;abstr.22. Westermarck T, Rahola T, Suomela M, Salmi A. Distribution of 75 Se-selenite in patients with progressive muscular dystrophy. Kirjassa: Dunckley JV, toim. Proceedings of the New Zealand workshop on trace elements in New Zealand, University of Otago Dunedin, New Zealand 1981; Airaksinen E, Riikonen R, Koivisto K, Leino E. GABA in the CSF of patients with convulsive disorders. Pohjoismainen neurologikokous, Kuopio 1982;abstr. Bardy AH, Granström M-L, Hiilesmaa V K. Valproic acid and breast feeding: Preliminary results from the prospective Helsinki study. Kirjassa: Janz D et al, toim. Epilepsy, pregnancy and the child. Raven Press, New York 1982; Granström M-L. Development of the children of epileptic mothers: Preliminary results from the prospective Helsinki study. Kirjassa: Janz D et al, toim. Epilepsy, pregnancy and the child. Raven Press, New York 1982; Granström M-L, Bardy AH, Hiilesmaa VK. Prolonged feeding difficulties of infants of primidone mothers during neonatal period: Preliminary results from the prospective Helsinki study. Kirjassa: Janz D et al, toim. Epilepsy, pregnancy and the child. Raven Press, New York 1982; Granström M-L, Hiilesmaa VK. Malformations and minor anomalies in the children of epileptic mothers: Preliminary results of the prospective Helsinki study. Kirjassa: Janz D et al, toim. Epilepsy, pregnancy and the child. Raven Press, New York 1982; Granström M-L, Hiilesmaa VK. Physical growth of the children of epileptic mothers: Preliminary results from the prospective Helsinki study. Kirjassa: Janz D et al, toim. Epilepsy, pregnancy and the child. Raven Press, New York 1982;

9 9 Gutteridge JMC, Rowley DA, Halliwell B, Westermarck T. Increased non-protein-bound iron and decreased protection against superoxideradical damage in cerebrospinal fluid from patients with neuronal ceroid lipofuscinoses. Lancet 1982;II: Haavio M-L. Tandvård för specialpatienter.nordisk Förening för Pedodonti 82- kongressen, Helsingfors 1982;abstr.14. Haavio M-L, Ainamo J. The use of chlorhexidine in an institution for mentally retarded. Congress of the International Association of Dentistry for the Handicapped, Toronto 1982;abstr. Haltia M, Somer H, Palo J. Neuronal intranuclear inclusion disease - A new entity. IXth International Congress on Neuropathology, Vienna 1982;abstr. Helminen E. Klotsapiinin aiheuttamat sytogeneettiset muutokset ihmisen lymfosyyttiviljelyissä. Pro gradu, Helsingin Yliopisto, Perinnöllisyystieteen laitos, Helsinki Hiilesmaa VK, Teramo K, Granström M-L, Bardy AH. Fetal growth and antiepileptic drugs: Preliminary results from the prospective Helsinki study. Kirjassa: Janz D et al, toim. Epilepsy, pregnancy and the child. Raven Press, New York 1982; Kallunki I, Leisti J, Wilska M. Downin oireyhtymä, Karisto Kähkönen M. Marker X-linked mental retardation. Observations on the x chromosome. European Society of Human Genetics. Symposium: X- linked diseases, Madrid 1982;abstr.86. Palo J, Elovaara I, Haltia M, Ng Ying Kin NMK, Wolfe LS. infantile neuronal ceroid lipofuscinosis: Isolation of storage material. Neurology 1982;32: Riikonen R. A long-term follow-up study of 214 children with the syndrome of infantile spasms. Neuropediatrics 1982;13: Simola KOJ, Kähkönen M, Leisti J. X-kromosomisesti periytyvä vajaamielisyys ja merkkikromosomi fra(x) (q28). Duodecim 1982;98: Suomela M, Rahola T, Simell O, Westermarck T, Kuitunen P. Wholebody counter studies on retention of zinc-65 in acrodermatitis enteropathica. Kirjassa: Malmivuo J, Lekkala J, toim. Proceedings of the fourth national meeting on biophysics and medical engineering and the third national meeting on physics in industry. Department of Physics, University of Helsinki, Helsinki 1982; Westermarck T. Antioxidant therapy with special reference to

10 10 selenium. Kirjassa: Holmberg P et al, toim. Proceedings of the symposium on aspects of free radicals in cell aging. Report series in medical physics N o 4, University of Helsinki, Helsinki 1982; Westermarck T. Seleenin merkityksestä lääketieteessä. Porras 1982;4: Westermarck T, Pohja P, Salmi A. Studies on the effects of selenium administration to certain human patients. T welfth Linderstrøm- Lang conference, IUB symposium No Selenium, glutathione peroxidase and vitamin E. Laugarvatn, Iceland 1982;abstr.50. Westermarck T, Rahola T, Kallio A-K, Suomela M. Long-term turnover of selenite-se in children with motor disorders. Klin Pädiat 1982;194: Westermarck T, Rahola T, Suomela M, Santavuori P, Simell O. Sodium selenite absorption and losses in Spielmeyer-Sjögren type of neuronal ceroid lipofuscinosis (Batten's disease) using total body counting for 75 Se detection. Kirjassa: Armstrong D et al, toim. Ceroid-lipofuscinosis (Batten's desease). Elsevier Biomedical Press, Amsterdam, The Netherlands 1982; Westermarck T, Santavuori P, Marklund S, Pohja P, Salmi A. Studies on the effects of selenium administration to neuronal ceroid lipofuscinosis patients with special reference to reduced glutathione. Kirjassa: Armstrong et al, toim. Ceroid-lipofuscinosis (Batten's disease). Elsevier Biomedical Press, Amsterdam, The Netherlands 1982; Wilska M, Eistola P, Leisti J. CAT scan on patients with mental retardation and multiple congenital anomalies. International postgraduate course on "Identification of genetic syndromes in pediatrics" 1982;abstr Elovaara I, Paetau A, Palo J, Haltia M. Glial filaments are a major brain fraction in infantile neuronal ceroid lipofuscinosis. J Neurochem 1983;Suppl 103:abstr.41. Gutteridge JMC, Westermarck T, Santavuori P. Iron and oxygen radicals in tissue damage: implications for the neuronal ceroid lipofuscinoses. Acta Neurol Scand ; Gutteridge JMC, Westermarck T. Raudan ja hapen radikaalit ja kudosvauriot. Kirjassa: Jokela H et al, toim. Seleenistä C-vitamiiniin. Recallmed, Imatra 1983; Haavio M-L. Vammaisten hammashoito läntisten teollisuusmaiden kannalta. Suom Hammasl 1983;30: Iivanainen M. Effects of antiepileptic drugs on maturation of

11 11 the human body. Kirjassa: Morselli PL et al, toim. Antiepileptic drug therapy in pediatrics. Raven Press, New York 1983; Iivanainen M, Savolainen H. Side effects of phenobarbital and phenytoin during long-term treatment of epilepsy. Acta Neurol Scand ;Suppl 97: Knuutila S, Leisti J, Salunen R, Rossi L. Two chromosome fragments in a child with Down's syndrome and transient chromosome aberrations in the mother. J Med Genet 1983; 20:232. Kähkönen M. X-kromosomin merkkiominaisuuteen liittyvä vajaamielisyys. Lisensiaattityö, Helsingin Yliopisto, Perinnöllisyystieteen laitos, Helsinki Kähkönen M. Marker-X-associated mental retardation. Observations of the X-chromosome. Clinical Genetics 1983;23: Kähkönen M, Leisti J, Wilska M, Varonen S. Marker X-associated mental retardation. A study of 150 retarded males. Clinical Genetics 1983;23: Ng Ying Kin NMK, Palo J, Haltia M, Wolfe LS. High levels of brain dolichols in neuronal ceroid-lipofuscinosis and senescence. J Neurochem 1983;40: Riikonen R. Epilepsian tutkimuksen kehitys. Kuusio, Suppl., Roche Riikonen R. Infantile spasms: some new theoretical aspects. Epilepsia 1983;24: Riikonen R, Simell O, Jääskeläinen J, Perheentupa J. Calcium and phosphorus homeostasis in children with infantile spasms during ACTH therapy. Kirjassa: Frame B, Potts J, toim. Clinical disorders of bone and mineral metabolism. Excerpta Medica, International Congress Series 1983;617:522. Saxen L, Viljanen T, Westermarck T. Occurence of caries and periodontal disease in selenium-treated patients with Spielmeyer- Sjögrens's disease. Scand J Dent Res 1983;91: Suomela M, Rahola T, Westermarck T, Pohja P. Retention and distribution of sodium 75 Se-selenite in certain neuromuscular diseases. International symposium "Health Effects and Interactions of Essential and Toxic Elements", Lund 1983;abstr.165. Telakivi T, Partinen M, Salmi T. Sleep disturbance in mental retardation. Sleep Res 1983;12:317. Westermarck T. Seleeniyhdisteiden merkityksestä lääketieteessä.

12 12 Solubiologi 1983;1: Westermarck T. Seleenin merkityksestä neurologiassa. Eläinlääkeuutiset 1983;1: Westermarck T. Selen och vitamin E vid vissa neurologiska sjukdomar. Kirjassa: Johansson T toim. Symposium Selen i kosten. Pharmacia Norden AB, Uppsala 1983; Westermarck T. Mineraalit. Kirjassa: Jokela H et al, toim. Seleenistä C-vitamiiniin. Recallmed Oy, Imatra 1983; Westermarck T, Salmi A, Lakomaa E-L, Pohja P. Selenium level in milk during long-term supplementation with sodium selenite to a patient with multiple sclerosis. International symposium "Health Effects and Interactions of Essential and Toxic Elements". Lund 1983;abstr.216. Wolfe LS, NG Ying Kin NMK, Palo J, Haltia M. Dolichols in brain and urinary sediment in neuronal ceroid lipofuscinosis. Neurology (NY) 1983;33: Elovaara I, Icén A, Varonen S, Palo J. Serum and CSF proteins in Alzheimer's disease and Down's syndrome. Acta Neurol Scand ;Suppl 98:mini-paper Haltia M, Somer H, Palo J, Johnson WG. Neuronal intranuclear inclusion disease in identical twins. Ann Neurol 1984;15: Iivanainen M. Causes of mental retardation. Acta Neurol Scand ;Suppl 98: Iivanainen M. Specific disorders leading to mental retardation in Finland. Kirjassa: Berg JM, toim. Perspectives and Progress in Mental Retardation, Biomedical Aspects. University Park Press, Baltimore 1984;Vol II: Iivanainen M, Juntunen J. Constitutional factors in occupational neurology. International symposium on research on work-related diseases, Espoo 1984;34. Johansson E, Lindh U, Alanen T, Westermarck T, Heiskala H, Santavuori P, Elovaara I. Elemental profiles of blood cells in certain neurological disorders. Med Biol 1984;62: Knuutila S, Heinonen K, Hongell K, Varonen S, Simell O. A duplication within the critical fertility region of X chromosome in a mentally retarded woman with normal menarche. Hereditas 1984;101:

13 13 Palo J, Haltia M, Carpenter S, Karpati G, Mushynski W. Neurofilament subunit-related proteins in neuronal intranuclear inclusions. Ann Neurol 1984;15: Riikonen R. An unusual case of recovery from infantile spasms. Develop Med Child Neurol 1984;26: Salonen R. The Meckel syndrome: Clinicopathological findings in 67 patients. Am J Med Genet 1984;18: Salonen R, Norio R. The Meckel syndrome in Finland: Epidemiological and genetic aspects. Am J Med Genet 1984;18: Santavuori P, Westermarck T. Antioxidant therapy in neuronal ceroid lipofuscinosis. Med Biol 1984;62: Santavuori P, Johansson E, Lindh U, Alanen T, Westermarck T, Heiskala H, Elovaara I. Elemental profiles of blood cells in certain neurological disorders. Med Biol 1984;62: Simola K. X-linked mental retardation with the marker X chromosome - a clinical and cytogenetic study. Academic dissertation, Helsinki Telakivi T, Partinen M, Salmi T. Nocturnal periodic breathing in patients with mental retardation. Acta Neurol Scand ;Suppl 98: Telakivi T, Partinen M, Salmi T. Nocturnal periodic breathing in patients with Down's syndrome. 7th Eur Congr Sleep Res, München, 1984;abstr. Westermarck T. Consequences of low selenium intake for man. Kirjassa: Brätter P, Schramel P, toim. Trace element analytical chemistry in medicine and biology. Walter de Gruyter & Co, Berlin 1984;Vol 3: Westermarck T, Santavuori P. Principles of antioxidant therapy in neuronal ceroid lipofuscinosis. Med Biol 1984;62: Westermarck T, Gutteridge JMC, Heiskala H, Santavuori P, Rahola T, Suomela M. Involvement of iron in the pathogenesis of neuronal ceroid lipofuscinosis. Kirjassa: Michelson AM, Bannister JV, toim. Life chemistry reports, supplement series, Suppl 2, Oxidative damage and related enzymes - EMBO Workshop Harwood academic publishers, Chur, London, Paris, New York 1984; Autio S, Palo J, Aittokallio M, Turunen S. Kehitysvammaisuus.

14 14 WSOY, Porvoo Haavio M-L. Hammashoidon järjestelyt ja hoitotilanteen ongelmat kehitysvammakeskuslaitoksessa. Kirjassa: Tuutti H, toim. Vammaishammashoito. Kuopion Yliopiston täydennyskoulutuskeskuksen julkaisuja 2/1985. Kuopio 1985; Haavio M-L. Kehitysvammaiset ja ajantasainen hammashuolto. Ketju 1985;21: Iivanainen M. Brain developmental disorders leading to mental retardation. Modern principles of diagnosis. Charles C Thomas, Springfield, Ill Kurki P, Paetau A, Haltia M. Autoimmune antibodies to brain antigens in human patients. Kirjassa: Bignami A, Adinolfi M, toim. Immunological studies of brain cells and functions.spastics International Medical Publications, Research Monogrph no 6, London 1985; Lindy M, Autio S. Incidence of neural-tube defects in Southern Finland from 1970 to Develop Med Child Neurol 1985;27: Paetau A, Elovaara I, Paasivuo R, Virtanen I, Palo J, Haltia M. Glial filaments are a major brain fraction in infantile neuronal ceroidlipofuscinosis. Acta Neuropath (Berl) 1985;65: Paetau A, Salonen R, Haltia M. Brain pathology in the Meckel syndrome: a study of 59 cases. Clin Neuropathol 1985;4: Palo J, Jokelainen M, Kaste M, Teräväinen H, Waltimo O. Neurologia. WSOY, Porvoo-Helsinki-Juva Palo J, Rauvala H, Finne J, Haltia M, Palmgren K. Hyperexcretion of free N-acetylneuraminic acid - a novel type of sialuria. Clin Chim Acta 1985;145: Palo J, Wolfe LS, Bergeron C, Gold RJM, Santavuori P, Haltia M, Carpenter S. Dolichols in brain and urinary sediment in neuronal ceroid lipofuscinosis (NCL) and Alzheimers disease (AD). J Neurol 1985;Suppl 62:abstr.232. Rapola J, Santavuori P, Savilahti E. Suction biopsy of rectal mucosa in the diagnosis of infantile and juvenile types of ceroidlipofuscinosis. Human Pathol 1984;15: Rapola J, Salonen R. Visceral anomalies in the Meckel syndrome. Teratology 1985;31: Santavuori P, Westermarck T, Rapola J, Pohja P, Moren R, Lappi M, Vuonnala U. Antioxidant treatment in Spielmeyer-Sjögren's disease. Acta Neurol Scand 1985;71:

15 15 Telakivi T, Partinen M, Salmi T. Sleep disturbance in patients with juvenile neuronal ceroid lipofuscinosis: A new application of the SCSB-method. J ment Defic Res 1985;29: Tengström C, Wilska M, Kähkönen M, Autio S, Leisti J. Partial trisomy 12q: clinical and cytogenetic observations. Clin Genet 1985;28: Wolfe LS, Ng Ying Kin NMK, Palo J, Bergeron C, Kotila M, Varonen S. Dolichols are elevated in brain tissue from Alzheimer's disease, but not in urinary sediment from Alzheimer's disease and Down's syndrome. Neurochem Pathol 1985;3: Airaksinen E, Riikonen R, Tuomisto L, Airaksinen M. ACTH therapy and the decrease of GABA in the CSF of children with infantile spasm syndrome. X International Congress of Neuropathology, Stockholm 1986;abstr. Airaksinen E, Riikonen R, Tuomisto L, Airaksinen M. CSF GABA concentration in children with various neurological diseases. X International Congress of Neuropathology, Stockholm 1986;abstr. Aula P, Palo J. Lysosomaalisten kertymäsairauksien diagnostiikka. Duodecim 1986;102: Elovaara I, Maury CPJ, Palo J. Serum amyloid A protein, albumin and prealbumin in Alzheimer's disease and in demented patients with Down's syndrome. Acta Neurol Scand 1986;74: Eskola J, Keski-Oja J, Wilska M, Autio S. Risk of hepatitis B in a ward for mentally retarded HBsAg carriers. Infection 1986;14: Haavio M-L, Palin-Palokas T. Hammashuollon resurssit ja sisältö suomalaisissa kehitysvammakeskuslaitoksissa. Suom Hammasl 1986;33: Halmesmäki E, Ylikorkala O. The effect of maternal ethanol intoxication on fetal cardiotocography: a report of four cases. Br J Obstet Gynaecol 1986;93: Halmesmäki E, Alfthan G, Ylikorkala O. Selenium in pregnancy: effect of maternal drinking. Obstet Gynecol 1986;68: Halmesmäki E, Autti I, Granström M-L, Heikinheimo M, Raivio K,

16 16 Ylikorkala O. Alpha-fetoprotein, human placental.lactogen and pregnancy specific beta-1-glycoprotein in drinking pregnant women: relations to fetal alcohol syndrome. Amer J Obstet Gynecol 1986;155: Haltia M, Tarkkanen A, Somer H, Palo J, Karli H. Neuronal intranuclear inclusion disease. Clinical ophtalmological features and ophtalmic pathology. Acta Ophtalmol 1986;64: Iivanainen M. Aivojen kehityshäiriöt - etiologiasta ehkäisyyn. Kirjassa: Kivalo E, Rinne UK, toim. Uusia näkökohtia neurologiassa. Lääkefarmos, Turku 1986; Iivanainen M. Keskushermoston ja immuunivasteen välinen vuorovaikutus. Kirjassa: Kivalo E, Rinne UK, toim. Uusia näkökohtia neurologiassa. Lääkefarmos, Turku 1986; Iivanainen M, Hongell K. Neurological aspects of mentally retarded patients with chromosome aberration. Kirjassa: Berg JM, toim. Science and Service in Mental Retardation. Methuen, London and New York 1986; Ikonen RS, Kuusinen E, Janas M. Vastasyntyneen aivojen kaikututkimus. Duodecim 1986;102: Ikonen RS, Kuusinen E, Janas M, Koivikko M, Sorto AE. Periventricular leukomalacia (PVL) in preterm infants. 10th European Congress of Perinatal Medicine, Leipzig, GDR, 1986;abstr. Krusius T, Viitala J, Palo J, Maury CPJ. Enrichment of high mannose -type glycans in nervous tissue glycoproteins in neuronal ceroidlipofuscinosis. J Neurol Sci 1986;72:1-10. Kuusinen E, Ikonen RS, Janas M, Koivikko M. Periventricular leukomalacia (PVL) in preterm infants without serious prinatal complications. Finnish Paediatric Days, Tampere 1986;abstr. Kähkönen M, Leisti J, Thoden C-J, Autio S. Frequency of rare fragile sites among mentally subnormal schoolchildren. Clin Genet 1986;30: Marklund S, Heiskala H, Westermarck T, Santavuori P. Superoxide dismutase isoenzymes in cerebrospinal fluid and plasma from patients with neuronal ceroid-lipofuscinoses. Clin Science 1986;71: Paetau A, Virtanen I. Cytoskeletal properties and endogenous degradation of glial fibrillary acidic protein and vimentin in cultured human glioma cells. Acta Neuropathol 1986;69: Paetau A. Glial fibrillary acidic protein, vimentin and

17 17 fibronectin in primary cultures and subcultures of human glioma cells and fetal brain. X International Congress of Neuropathology, Stockholm 1986;abstr. Paetau A, Haltia M. Morphologic observations on cultured brain cells and skin fibroblasts from patients with infantile neuronal ceroidlipofuscinosis. X International Congress of Neuropathology, Stockholm 1986;abstr. Perheentupa J, Riikonen R, Dunkel L, Simell O. Adrenocortical hyporesponsiveness after treatment with ACTH of infantile spasms. Arch Dis Childh 1986;61: Riikonen R, Perheentupa J. Serum steroids and success of corticotropin therapy in infantile spasms. Acta Ped Scand 1986;75: Riikonen R, Simell O, Jääskeläinen J, Rapola J, Perheentupa J. Disturbed calcium and phosphate homeostasis during treatment with ACTH of infantile spasms. Arch Dis Childh 1986;61: Riikonen R. Aktuelle Probleme der Behandlung und Betreung bei Patienten mit West-syndrom. Erfahrungen in Finnland. XI Jahrestagungen der Epileptologie, Königstein 1986;abstr. Riikonen R. Recent advances in infantile spasms research. International Symposium of Pediatrics, Tokio 1986;abstr. Riikonen R, Perheentupa J. Serum steroids and success of corticotropin therapy in infantile spasms. XIV International Congress of Pediatrics, Honolulu 1986;abstr. Salonen R. The Meckel and hydrolethalus syndromes. Diagnostic, genetic and epidemiological studies. Academic dissertation, University of Helsinki, Helsinki Sulkava R, Nordberg U-R, Erkinjuntti T, Westermarck T. Erythrocyte glutathione peroxidase and superoxide dismutase in Alzheimer's disease and other dementias. Acta Neurol Scand 1986;73: Tengström C. Prometafasanalys: metodologi och praktisk tillämpning vid etiologisk undersökning av mental retardation. Pro gradu, Genetiska institutionen, Helsingfors universitet, Helsingfors Westermarck T, Rahola T, Lappalainen R, Puhakainen M. Retention and biological half-life of 75Se-selenomethionine in muscular dystrophy of Duchenne type (DMD). First meeting of the International Society for Trace Element Research in Humans, Rancho Mirage, California, USA 1986;abstr.

18 18 Wolfe LS, Palo J, Santavuori P, Andermann F, Andermann E, Jacob JC, Kolodny E. Urinary sediment dolichols in the diagnosis of neuronal ceroid-lipofuscinosis. Ann Neurol 1986;19: Halmesmäki E. Alcohol consumption in pregnancy. Academic dissertation, University of Helsinki, Helsinki, Halmesmäki E. Alkoholin aiheuttamat sikiövauriot. Kirjassa: Kiianmaa K, Ylikahri R, toim. Alkoholi. Vaikutukset elimistöön ja terveyteen. 1987; Halmesmäki E, Raivio KO, Ylikorkala O. Patterns of alcohol consumption during pregnancy. Obstet Gynecol 1987;69: Halmesmäki E, Autti I, Granström M-L, Stenman U-H, Ylikorkala O. Estradiol, estriol, progesterone, prolactin and human chorionic gonadotropin in pregnant women with alcohol abuse. J Clin Endocrin Metab 1987;64: Halmesmäki E, Autti I, Granström M-L, Heikinheimo M, Raivio K, Ylikorkala O. Prediction of fetal alcohol syndrome by maternal alphafetoprotein, human placental lactogen and pregnancy-specific beta-1- glycoprotein. Alcohol Alcoholism 1987;Suppl 1: Häkkinen VK, Ignatius J, Koskinen M, Koivikko MJ, Ikonen RS, Janas M. Visual evoked potentials in high-risk infants. Neuropediatrics 1987;18: Iivanainen M. Drug treatment of epilepsy in mentally retarded patients. Kirjassa: Dam M, Johannessen SI, Nilsson B, Sillanpää M, toim. Epilepsy: Progress in Treatment. Wiley, London 1987; Ikonen RS, Kuusinen EJ. Periventricular leukomalacia and prolonged flare in preterm infants. Arch Dis Child 1987;62: Ikonen RS, Kuusinen E, Janas M, Koivikko M. Extensive periventricular leukomalacia in preterm infants. Euroson 87. Sixth Congress of the European Federation of Societes for Ultrasound in Medicine and Biology, Helsinki 1987;abstr. Koskiniemi M, Wilska M, Icén A, Julkunen I, Leisti J, Vaheri A. Mental retardation assciated with elevated cerebrospinal fluid antibody levels to herpes simplex, adeno and mumps viruses. Neuropediatrics 1987;18: Kuusinen EJ, Ikonen RS, Janas MO, Koivikko MJ. Extensive periventricular leukomalacia in preterm infants. Neuropediatrics 1987;18:122.

19 19 Kuusinen EJ, Ikonen RS, Ritanen U-M, Janas MO. Täysiaikaisen vastasyntyneen vaikean asfyksian ennuste. - Onko lyhytvaikutteisen barbituraatin käytöstä hyötyä? Lastenlääkäripäivät, Kuopio Kähkönen M, Alitalo T, Airaksinen E, Matilainen R, Launiala K, Autio S, Leisti J. Prevalence of the fragile-x syndrome in four birth cohorts of children of school age. Hum Genet 1987;77: Kähkönen M, Tengström C. Population study of folic acid sensitive fragile sites on human chromosomes. Ninth International Workshop on Human Gene Mapping, Paris 1987;abstr. Kähkönen M, Alitalo T, Airaksinen E, Matilainen R, Launiala K, Autio S, Leisti J. Prevalence of the fragile-x syndrome in four birth cohorts of children of school age. Third International Workshop on the fragile X and X-linked mental retardation, Troina, Italy 1987;abstr. Perheentupa J, Riikonen R, Simell O, Dunkel L. Adrenal hyporesponsiviness after ACTH in infantile spasms. Pediatrics Digest 1987;August:24. Raininko R, Santavuori P, Heiskala H, Palo J. Neuroradiological findings in neuronal ceroidlipofuscinoses. Neuropediatrics 1987;18:120. Rapola J, Santavuori P, Heiskala H. Diagnosis of INCL from placental villi. Neuropediatrics 1987;18:120. Riikonen R. Recent advances in infantile spasms research in Finland. Acta Paediatr Jpn 1987;29: Riikonen R. Current knowledge of actions of ACTH and corticosteroids. Brain and Development 1987;9: Riikonen R, Simell O, Perheentupa J. Disturbed calcium and phosphate homeostasis during treatment with ACTH of infantile spasms. International Synopses. Princeton, USA, Riikonen R, Simell O, Perheentupa J. Disturbed calcium and phosphate homeostasis during treatment with ACTH of infantile spasms. Pediatrics Digest 1987;August:23. Riikonen R, Santavuori P, Nenonen P, Tokola R, Meretoja O. Short barbiturate anesthesia in the treatment of infantile spasms. Meeting of the European Federation of Child Neurology Societes, Hyvinkää, 1987;abstr. Riikonen R. Infantile spasms in siblings. J Ped Neurosc 1987;3: Santavuori P, Riikonen R, Nenonen P, Tokola R, Meretoja O. Barbiturate therapy in intractable seizures. Meeting of the European Federation of Child Neurology Societes, Hyvinkää 1987;abstr.

20 20 Santavuori P, Somer H, Kruus S, Sainio K, Rapola J, Leisti J, Nikitin T, Ketonen L. Muscle-Eye-Brain (MEB) disease: a new form of congenital muscular dystrophy with ophtalmic and cerebral manifestations. Neurology 1987; 37(Suppl 1):179. Santavuori P, Heiskala H, Westermarck T, Sainio K, Moren R. Experience over 17 years with antioxidant treatment in Spielmeyer-Sjögren disease. Am J Med Genetics 1987; Suppl 5: Tenovuo A, Kero P, Piekkala P, Korvenranta H, Sillanpää M, Erkkola R. Growth of 519 small-for-gestational age infants during the first two years of life. Acta Ped Scand 1987;76: Vuonnala U, Westermarck T, Santavuori P, Pohja P, Himberg J-J. Vitamin B6 supplementation in juvenile neuronal ceroid lipofuscinosis patients. International Congress on Chemical and Biological Aspects of Vitamin B6 Catalysis, Turku Ylikorkala O, Halmesmäki E, Viinikka L: Effect of ethanol on thromboxane and prostacyclin synthesis by fetal platelets and umbilical artery. Life Sciences 1987;41: Ylikorkala O, Stenman U-H, Halmesmäki E. Gammaglutamyltransferase and mean cell volume reveal maternal alcohol abuse and fetal alcohol effects. Am J Obstet Gynecol 1987;157: Autio S, Pihko H, Tengström C. Clinical features in a de novo interstitial deletion 15q13 to q15. Clin Genet 1988;34: van Diggelen OP, von Koskull H, Ämmälä P, Vredeveldt GTM, Janse CH, Kleijer WJ. First trimester diagnosis of Wolman's disease. Prenatal Diagn 1988;8: Gaily E, Granström M-L, Hiilesmaa V. Minor anomalies in offspring of epileptic mothers. J Pediatr 1988;112: Gaily E, Kantola-Sorsa E, Granström M-L. Intelligence of children of epileptic mothers. J Pediatr 1988;113: Haavio M-L. Vammaisten hammashuollon ajankohtaisia kysymyksiä. CP-lehti 1988;23: Haavio M-L, Tenovuo J, Akaan-Penttilä E, Wilska M, Varonen S. Changes in oral health after tympanic neurectomy. Proc Finn Dent Soc 1988;84: Haavio M-L, Tenovuo J, Akaan-Penttilä E, Wilska M, Varonen S.