P. Santavuori: search on Z-Library

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1

Neuronal ceroid lipofuscinoses in childhood

P. Santavuori, L. Lauronen, E. Kirveskari, L. Åberg, K. Sainio, T. Autti

Journal:

Neurological Sciences

Year:

2000

Language:

english

File:

PDF, 53 KB

english, 2000

2

Infantile Type of So-called Neuronal Ceroid-lipofuscinosis

Pirkko Santavuori, Matti Haltia, Juhani Rapola

Journal:

Developmental Medicine & Child Neurology

Year:

1974

Language:

english

File:

PDF, 4.39 MB

english, 1974

3

Psychological symptoms and sleep disturbances in neuronal ceroid-lipofuscinoses (NCL)

P. Santavuori, T. Linnankivi, J. Jaeken, S. -L. Vanhanen, T. Telakivi, H. Heiskala

Journal:

Journal of Inherited Metabolic Disease

Year:

1993

Language:

english

File:

PDF, 258 KB

english, 1993

4

Ibuprofen or Acetaminophen for the Acute Treatment of Migraine in Children: A Double-blind, Randomized, Placebo-controlled, Crossover Study

Hamalainen, M. L., Hoppu, K., Valkeila, E., Santavuori, P.

Journal:

Year:

1997

Language:

english

File:

PDF, 577 KB

english, 1997

5

Circadian rhythm studies in neuronal ceroid-lipofuscinosis (NCL)

Erika Heikkilä, Taina H. Hàtònen, Tiina Telakivi, Maija-Liisa Laakso, Hannu Heiskala, Tapani Salmi, Aino Alila, Pirkko Santavuori

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 588 KB

english, 1995

6

Brain MRI in children with migraine: a controlled morphometric study

ML Hämäläinen, T Autti, O Salonen, P Santavuori

Journal:

Year:

1996

File:

PDF, 300 KB

1996

7

A Rapid Fluorogenic Palmitoyl-Protein Thioesterase Assay: Pre- and Postnatal Diagnosis of INCL

O.P. van Diggelen, J.L.M. Keulemans, B. Winchester, I.L. Hofman, S.L. Vanhanen, P. Santavuori, Y.V. Voznyi

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 53 KB

english, 1999

8

Letter to the editor

Santavuori, Pirkko, Somer, Hannu, Haltia, Matti, Pihko, Helena, Sainio, Kimmo

Journal:

Brain and Development

Year:

1990

Language:

english

File:

PDF, 162 KB

english, 1990

9

Application of a New Monoclonal Antibody for Time-resolved Fluoroimmunoassay of Human Pancreatic Phospholipase A2

Aulikki Santavuori, S., Kortesuo, Pirjo T., Eskola, Jarkko U., Nevalainen, Timo J.

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

1991

Language:

english

File:

PDF, 1.60 MB

english, 1991

10

Large Alterations in Ganglioside and Neutral Glycosphingolipid Patterns in Brains from Cases with Infantile Neuronal Ceroid Lipofuscinosis/Polyunsaturated Fatty Acid Lipidosis

Lars Svennerholm, Pam Fredman, Birgitta Jungbjer, Jan-Eric Månsson, Britt-Marie Rynmark, Kerstin Boström, Bengt Hagberg, Lars Norén, Pirkko Santavuori

Journal:

Journal of Neurochemistry

Year:

1987

Language:

english

File:

PDF, 1.37 MB

english, 1987

11

Hyperandrogenism in girls with juvenile neuronal ceroid lipofuscinosis

LAURA E ÅBERG, AILA TIITINEN, TAINA H AUTTI, LEENA KIVISAARI, PIRKKO R SANTAVUORI

Journal:

European Journal of Paediatric Neurology

Year:

2002

Language:

english

File:

PDF, 89 KB

english, 2002

12

Superoxide dismutase, catalase and glutathione peroxidase in infantile, late infantile and juvenile neuronal ceroid-lipofuscinosis

Stefan L. Marklund, Pirkko Santavuori, Tuomas Westermarck

Journal:

Clinica Chimica Acta

Year:

1981

Language:

english

File:

PDF, 525 KB

english, 1981

13

[Supplements to Clinical Neurophysiology] Clinical Neurophysiology at the Beginning of the 21st Century, 11th International Congress of Electromyography and Clinical Neurophysiology Volume 53 || Chapter 62 Neuronal ceroid lipofuscinoses in childhood

Year:

2000

Language:

english

File:

PDF, 1.17 MB

english, 2000

14

Decreased striatal dopamine transporter density in JNCL patients with parkinsonian symptoms

Aberg, L., Liewendahl, K., Nikkinen, P., Autti, T., Rinne, J. O., Santavuori, P.

Journal:

Year:

2000

Language:

english

File:

PDF, 626 KB

english, 2000

15

MRI of the normal brain from early childhood to middle age

T. Autti, R. Raininko, S. L. Vanhanen, M. Kallio, P. Santavuori

Journal:

Year:

1994

Language:

english

File:

PDF, 854 KB

english, 1994

16

Atypical juvenile neuronal ceroid liposfuscinosis with granular osmiophilic deposit-like inclusions in the autonomic nerve cells of the gut wall

L. Åberg, I. Järvelä, J. Rapola, T. Autti, E. Kirveskari, M. Lappi, L. Sipilä, P. Santavuori

Journal:

Acta Neuropathologica

Year:

1998

Language:

english

File:

PDF, 2.04 MB

english, 1998

17

Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency

R. Kälviäinen, K. Eriksson, M. Losekoot, I. Sorri, I. Harvima, P. Santavuori, I. Järvelä, T. Autti, R. Vanninen, T. Salmenperä, O. P. Van Diggelen

Journal:

European Journal of Neurology

Year:

2007

Language:

english

File:

PDF, 506 KB

english, 2007

18

A Variant Form of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN5) Is Not an Allelic Form of Batten (Spielmeyer-Vogt-Sjögren, CLN3) Disease: Exclusion of Linkage to the CLN3 Region of Chromosome 16

R. Williams, P. Santavuori, L. Peltonen, R.M. Gardiner, I. Jarvelä

Journal:

Year:

1994

File:

PDF, 106 KB

1994

19

Oral dihydroergotamine for therapy-resistant migraine attacks in children

Mirja L. Hämäläinen, Kalle Hoppu, Pirkko R. Santavuori

Journal:

Pediatric Neurology

Year:

1997

Language:

english

File:

PDF, 321 KB

english, 1997

20

Perinatal cytomegalovirus infection in man.

Granstrom, M, Leinikki, P, Santavuori, P, Pettay, O

Journal:

Archives of Disease in Childhood

Year:

1977

Language:

english

File:

PDF, 931 KB

english, 1977

21

Phoniatric and Neurological Findings in Children with Optic Disc Drusen

Rantala, Seija-Leena, Santavuori, Pirkko, Erkkilä, Heikki, Riska, Tor-Björn

Journal:

Folia Phoniatrica et Logopaedica

Year:

1983

Language:

english

File:

PDF, 823 KB

english, 1983

22

Linkage map of the chromosomal region surrounding the infantile neuronal ceroid lipofuscinosis on 1p

Irma Järvelä, Pirkko Santavuori, Lea Puhakka, Matti Haltia, Leena Peltonen

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 313 KB

english, 1992

23

MRI of the normal brain from early childhood to middle age

T. Autti, R. Raininko, S. L. Vanhanen, M. Kallio, P. Santavuori

Journal:

Year:

1994

Language:

english

File:

PDF, 373 KB

english, 1994

24

MRI of neuronal ceroid lipofuscinosis. II. Postmortem MRI and histopathological study of the brain in 16 cases of neuronal ceroid lipofuscinosis of juvenile or late infantile type

T. Autti, R. Raininko, P. Santavuori, S. L. Vanhanen, V. P. Poutanen, M. Haltia

Journal:

Year:

1997

Language:

english

File:

PDF, 1.93 MB

english, 1997

25

EEG and evoked potentials in infantile neuronal ceroid-lipofuscinosis

Sanna-Leena Vanhanen, Kimmo Sainio, Marjatta Lappi, Pirkko Santavuori

Journal:

Developmental Medicine & Child Neurology

Year:

1997

File:

PDF, 1019 KB

1997

26

Infantile type of so-called neuronal ceroid-lipofuscinosis: Part 1. A clinical study of 15 patients

P. Santavuori, M. Haltia, J. Rapola, Christina Raitta

Journal:

Journal of the Neurological Sciences

Year:

1973

Language:

english

File:

PDF, 746 KB

english, 1973

27

Sumatriptan for migraine attacks in children: A randomized placebo-controlled study Do children with migraine respond to oral sumatriptan differently from adults?

Hamalainen, M. L., Hoppu, K., Santavuori, P.

Journal:

Year:

1997

Language:

english

File:

PDF, 530 KB

english, 1997

28

Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis

Lonnqvist, T., Vanhanen, S. L., Vettenranta, K., Autti, T., Rapola, J., Santavuori, P., Saarinen-Pihkala, U.M.

Journal:

Year:

2001

Language:

english

File:

PDF, 125 KB

english, 2001

29

Ophthalmological Findings in Infantile Type of Neuronal Ceroid-Lipofuscinosis

Raitta, Christina, Santavuori, Pirkko

Journal:

Acta geneticae medicae et gemellologiae

Year:

1974

Language:

english

File:

PDF, 2.19 MB

english, 1974

30

Bleomycin-detectable iron and phenanthroline-detectable copper in the cerebrospinal fluid of patients with neuronal ceroid-lipofuscinoses

Dr. Hannu Heiskala, John M. C. Gutteridge, Tuomas Westermarck, Tuija Alanen, Pirkko Santavuori, John M. Opitz, James F. Reynolds, Raju K. Pullarkat

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 569 KB

english, 1988

31

Infantile type of so-called neuronal ceroid-lipofuscinosis: Part 2. Morphological and biochemical studies

M. Haltia, J. Rapola, P. Santavuori, A. Keränen

Journal:

Journal of the Neurological Sciences

Year:

1973

Language:

english

File:

PDF, 2.32 MB

english, 1973

32

Effect of age on the fulfilment of the IHS criteria for migraine in children at a headache clinic

Hamalainen, M., Hoppu, K., Santavuori, P.

Journal:

Year:

1995

Language:

english

File:

PDF, 525 KB

english, 1995

33

Muscle-eye-brain disease and Walker-Warburg syndrome

Pirkko Santavuori, Helena Pihko, Kimmo Sainio, Marjatta Lappi, Hannu Somer, Matti Haltia, Christina Raitta, Leena Ketonen, Jaakko Leisti

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 140 KB

english, 1990

34

DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1)

Irma Järvelä, Juhani Rapola, Leena Peltonen, Lea Puhakka, Jouni Vesa, Pirkko Ämmälä, Riitta Salonen, Markku Ryynänen, Pertti Haring, Aki Mustonen, Pirkko Santavuori

Journal:

Prenatal Diagnosis

Year:

1991

Language:

english

File:

PDF, 391 KB

english, 1991

35

Muscle-eye-brain disease: Clinical features, visual evoked potentials and brain imaging in 20 patients

Pirkko Santavuori, Leena Valanne, Taina Autti, Matti Haltia, Helena Pihko, Kimmo Sainio

Journal:

European Journal of Paediatric Neurology

Year:

1998

Language:

english

File:

PDF, 635 KB

english, 1998

36

Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping

Bru Cormand, Kristiina Avela, Helena Pihko, Pirkko Santavuori, Beril Talim, Haluk Topaloglu, Albert de la Chapelle, Anna-Elina Lehesjoki

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.50 MB

english, 1999

37

Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5)

Holmberg, V., Lauronen, L., Autti, T., Santavuori, P., Savukoski, M., Uvebrant, P., Hofman, I., Peltonen, L., Jarvela, I.

Journal:

Year:

2000

Language:

english

File:

PDF, 180 KB

english, 2000

38

Sleep and Its Disturbance in a Variant Form of Late Infantile Neuronal Ceroid Lipofuscinosis (CLNS)

Kirveskari, E., Partinen, M., Santavuori, P.

Journal:

Journal of Child Neurology

Year:

2001

Language:

english

File:

PDF, 743 KB

english, 2001

39

MRI Evaluation of the Brain in Infantile Neuronal Ceroid-Lipofuscinosis: Part 2: MRI Findings in 21 Patients

Vanhanen, S.-L., Raininko, R., Autti, T., Santavuori, P.

Journal:

Journal of Child Neurology

Year:

1995

Language:

english

File:

PDF, 807 KB

english, 1995

40

Clinical and magnetic resonance imaging findings in batten disease: Analysis of the major mutation (1.02-kb deletion)

Dr. Irma Järvelä, Taina Autti, Sirkka Lamminranta, Laura Åberg, Raili Raininko, Pirkko Santavuori

Journal:

Annals of Neurology

Year:

1997

Language:

english

File:

PDF, 445 KB

english, 1997

41

OPHTHALMOLOGICAL FINDINGS IN INFANTILE TYPE OF SO-CALLED NEURONAL CEROID LIPOFUSCINOSIS

CHRISTINA RAITTA, PIRKKO SANTAVUORI

Journal:

Acta Ophthalmologica (Blackwell)

Year:

1973

Language:

english

File:

PDF, 522 KB

english, 1973

42

Melatonin Ineffective in Neuronal Ceroid Lipofuscinosis Patients with Fragmented or Normal Motor Activity Rhythms Recorded by Wrist Actigraphy

Taina Hätönen, Erika Kirveskari, Hannu Heiskala, Kimmo Sainio, Maija-Liisa Laakso, Pirkko Santavuori

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 88 KB

english, 1999

43

Infantile neuronal ceroid-lipofuscinosis (INCL): Diagnostic criteria

P. Santavuori, S-L. Vanhanen, K. Sainio, M. Nieminen, T. Wallden, J. Launes, R. Raininko

Journal:

Journal of Inherited Metabolic Disease

Year:

1993

Language:

english

File:

PDF, 191 KB

english, 1993

44

146 Muscle-eye-brain disease and classical Walker-Warburg syndrome are two distinct disorders: A molecular genetic and clinical study

B. Cormand, H. Pihko, W. Dobyns, L. Valanne, H. Topaloglu, T. Voit, P. Santavuori, A.-E. Lehesjoki

Journal:

European Journal of Paediatric Neurology

Year:

1999

Language:

english

File:

PDF, 143 KB

english, 1999

45

MRI of neuronal ceroid lipofuscinosis

T. Autti, R. Raininko, S. L. Vanhanen, P. Santavuori

Journal:

Year:

1996

Language:

english

File:

PDF, 1.40 MB

english, 1996

46

Urinary sediment dolichols in the diagnosis of neuronal ceroid-lipofuscinosis

Dr Leonhard S. Wolfe, Jorma Palo, Pirkko Santavuori, Frederick Andermann, Eva Andermann, Jacob C. Jacob, Edwin Kolodny

Journal:

Annals of Neurology

Year:

1986

Language:

english

File:

PDF, 558 KB

english, 1986

47

Early juvenile neuronal ceroid-lipofuscinosis or variant Jansky-Bielschowsky disease: Diagnostic criteria and nomenclature

P. Santavuori, J. Rapola, R. Raininko, T. Autti, M. Lappi, A. Nuutila, J. Launes, K. Sainio

Journal:

Journal of Inherited Metabolic Disease

Year:

1993

Language:

english

File:

PDF, 156 KB

english, 1993

48

10.1038/975

Peltonen, Leena, Savukoski, Minna, Klockars, Tuomas, Holmberg, Ville, Santavuori, Pirkko, Lander, Eric S.

Journal:

Nature Genetics

Year:

1998

Language:

english

File:

PDF, 109 KB

english, 1998

49

Iron and oxygen radicals in tissue damage: implications for the neuronal ceroid lipofuscinoses

John M. C. Gutteridge, T. Westermarck, Pirkko Santavuori

Journal:

Acta Neurologica Scandinavica

Year:

1983

Language:

english

File:

PDF, 323 KB

english, 1983

50

Management of NCL patients

Pirkko Santavuori

Journal:

Pediatric Neurology

Year:

1994

Language:

english

File:

PDF, 254 KB

english, 1994

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