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1

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

2

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

3

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

4

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

5

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

6

Extensive cerebral white matter abnormality without clinical symptoms: A new hereditary condition?

T. Autti, M. Muttilainen, R. Raininko, H. Heiskala, J. Puranen, A.-M. Häkkinen, P. Tienari, P. Santavuori, P. Suominen, M. Somer

Journal:

Annals of Neurology

Year:

1999

Language:

english

File:

PDF, 1.38 MB

english, 1999

7

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

8

Palcental pathology and prenatal diagnosis of infantile type of neuronal ceroid-lipofuscinosis

Dr. Juhani Rapola, Prikko Santavuori, Hannu Heiskala, John M. Opitz, James F. Reynolds, Raju K. Pullarkat

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 501 KB

english, 1988

9

Experience over 17 years with antioxidant treatment in Spielmeyer-Sjögren disease

Pirkko Santavuori, Hannu Heiskala, Tuomas Westermarck, Kimmo Sainio, Riitta Moren, John M. Opitz, James F. Reynolds, Raju K. Pullarkat

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 608 KB

english, 1988

10

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

11

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

12

Palmitate oxidation in muscle mitochondria of patients with the juvenile form of neuronal ceroid-lipofuscinosis

Anna Majander, Dr. Helena Pihko, Pirkko Santavuori

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 290 KB

english, 1995

13

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

14

Muscle—eye—brain disease: A neuropathological study

Dr M. Haltia, I. Leivo, H. Somer, H. Pihko, A. Paetau, T. Kivelä, A. Tarkkanen, F. Tomé, E. Engvall, P. Santavuori

Journal:

Annals of Neurology

Year:

1997

Language:

english

File:

PDF, 940 KB

english, 1997

15

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

16

High-resolution magic angle spinning and 1H magnetic resonance spectroscopy reveal significantly altered neuronal metabolite profiles in CLN1 but not in CLN3

Beathe Sitter, Taina Autti, Jaana Tyynelä, Ursula Sonnewald, Tone F. Bathen, Johanna Puranen, Pirkko Santavuori, Matti J. Haltia, Anders Paetau, Tuomo Polvikoski, Ingrid S. Gribbestad, Anna-Maija Häkk

Journal:

Journal of Neuroscience Research

Year:

2004

Language:

english

File:

PDF, 148 KB

english, 2004

17

A child with Muscle-Eye-Brain disease : Ophthalmological and neurological characteristics

Kristina Teär Fahnehjelm, Jan Ygge, Mona-Lisa Engman, Mikael Mosskin, Pirkko Santavuori, Gunilla Malm

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2001

Language:

english

File:

PDF, 151 KB

english, 2001

18

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

ML Hämäläinen, K Hoppu, PR Santavuori

Journal:

Year:

1995

Language:

english

File:

PDF, 105 KB

english, 1995

19

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

20

Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi

Dr. Juhani Rapola, Riitta Salonen, Pirkko Ämmälä, Pirkko Santavuori

Journal:

Prenatal Diagnosis

Year:

1990

Language:

english

File:

PDF, 664 KB

english, 1990

21

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

22

Hormonal background of the hypertension and fluid derangements associated with adrenocorticotrophic hormone treatment of infants

R. Riikonen, O. Simell, L. Dunkel, P. Santavuori, J. Perheentupa

Journal:

European Journal of Pediatrics

Year:

1989

Language:

english

File:

PDF, 464 KB

english, 1989

23

MRI of the brain in muscle-eye-brain (MEB) disease

L. Valanne, H. Pihko, K. Katevuo, P. Karttunen, H. Somer, P. Santavuori

Journal:

Year:

1994

Language:

english

File:

PDF, 937 KB

english, 1994

24

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

25

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

26

Infantile type of so-called neuronal ceroid-lipofuscinosis

Matti Haltia, Juhani Rapola, Pirkko Santavuori

Journal:

Acta Neuropathologica

Year:

1973

Language:

english

File:

PDF, 2.55 MB

english, 1973

27

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

28

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

29

Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis, INCL: Morphological aspects

J. Rapola, R. Salonen, P. Ämmälä, P. Santavuori

Journal:

Journal of Inherited Metabolic Disease

Year:

1993

Language:

english

File:

PDF, 609 KB

english, 1993

30

Refined assignment of the infantile neuronal ceroid-lipofuscinosis (INCL) locus at 1p32 and the current status of prenatal and carrier diagnostics

E. Hellsten, J. Vesa, I. Järvelä, T. P. Mäkelä, P. Santavuori, L. Peltonen

Journal:

Journal of Inherited Metabolic Disease

Year:

1993

Language:

english

File:

PDF, 220 KB

english, 1993

31

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

32

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

33

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

34

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

35

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

36

Lamotrigine Therapy in Juvenile Neuronal Ceroid Lipofuscinosis

L. Åberg, E. Kirveskari, P. Santavuori

Journal:

Year:

1999

Language:

english

File:

PDF, 406 KB

english, 1999

37

Epilepsy and Antiepileptic Drug Therapy in Juvenile Neuronal Ceroid Lipofuscinosis

L. E. Åberg, M. Bäckman, E. Kirveskari, P. Santavuori

Journal:

Year:

2000

Language:

english

File:

PDF, 650 KB

english, 2000

38

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

Vesa, Jouni, Hellsten, Elina, Verkruyse, Linda A., Camp, Laura A., Rapola, Juhani, Santavuori, Pirkko, Hofmann, Sandra L., Peltonen, Leena

Journal:

Year:

1995

File:

PDF, 1.01 MB

1995

39

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

40

10.1038/sj.jid.5700389

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

Journal:

The Journal of Investigative Dermatology

Year:

2006

Language:

english

File:

PDF, 39 KB

english, 2006

41

10.1038/sj.ijir.3900541

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

Journal:

International Journal of Impotence Research

Year:

2000

File:

PDF, 23 KB

2000

42

10.1053/cn.2001.v25.0102512

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

Journal:

Current Problems in Cancer

Year:

2001

File:

PDF, 25 KB

2001

43

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

44

039 Hormonal changes in girls with juvenile neuronal ceroid lipofuscinosis

L.E. Åberg, A. Tiitinen, T. Autti, P. Santavuori

Journal:

European Journal of Paediatric Neurology

Year:

1999

Language:

english

File:

PDF, 133 KB

english, 1999

45

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

46

040 Stem cell transplantation in infantile neuronal ceroid-lipofuscinosis

S.-L. Vanhanen, U. Pihkala, O. Salonen, T. Autti, T. Lönnqvist, A.-M. Häkkinen, K. Liewendahl, P. Nikkinen, O.P. Van Diggelen, P. Santavuori

Journal:

European Journal of Paediatric Neurology

Year:

1999

Language:

english

File:

PDF, 134 KB

english, 1999

47

Electroencephalography in juvenile neuronal ceroid lipofuscinosis: visual and quantitative analysis

Andreo Larsen, Kimmo Sainio, Laura berg, Pirkko Santavuori

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 356 KB

english, 2001

48

Northern epilepsy syndrome (NES, CLN8) — MRI and electrophysiological studies

L. Lauronen, P. Santavuori, A. Hirvasniemi, E. Kirveskari, J. Huttunen, T. Autti

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 1.18 MB

english, 2001

49

Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders

Pirkko Santavuori, Sanna-Leena Vanhanen, Taina Autti

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 412 KB

english, 2001

50

New antidepressive and antipsychotic drugs in juvenile neuronal ceroid lipofuscinoses — a pilot study

Maria L. Bäckman, Laura E. berg, Eeva T. Aronen, Pirkko R. Santavuori

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 324 KB

english, 2001

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