Zobrazeno 1 - 10
of 123
pro vyhledávání: '"Pirkko Santavuori"'
Autor:
Pirkko Santavuori, Christina Raitta
Publikováno v:
Acta Ophthalmologica. 51:755-763
The ophthalmological findings in 16 children with infantile type of neuronal ceroid lipofuscinosis are presented. All patients showed signs of a progressive encephalopathy with onset at the age of 8–18 months. Visual failure, ataxia, muscular hypot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4a9f447089524b5873b13d03be66bc1
https://doi.org/10.1111/j.1755-3768.1973.tb06044.x
https://doi.org/10.1111/j.1755-3768.1973.tb06044.x
Publikováno v:
Developmental Medicine & Child Neurology. 39:456-463
Sixteen children with infantile neuronal ceroid-lipofuscinosis (INCL), age range 0.5 to 5.4 years, were studied using EEG, electroretinograms (ERG), visual evoked potentials (VEP) and somatosensory evoked potentials (SEP). Electroencephalography was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07de58904ca03f1e32d2790fa76b5a75
https://doi.org/10.1111/j.1469-8749.1997.tb07465.x
https://doi.org/10.1111/j.1469-8749.1997.tb07465.x
Autor:
Tuomo Polvikoski, Taina Autti, Pirkko Santavuori, Johanna Puranen, Anders Paetau, Beathe Sitter, Tone Frost Bathen, Ursula Sonnewald, Matti Haltia, Jaana Tyynelä, Ingrid S. Gribbestad, Anna-Maija Häkkinen
Publikováno v:
Journal of Neuroscience Research. 77:762-769
The neuronal ceroid lipofuscinoses (NCLs) are among the most severe inherited progressive neurodegenerative disorders of children. The purpose of this study was to compare the in vivo 1.5-T 1H magnetic resonance (MR) and ex vivo 14.3-T high-resolutio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8cd0f798243c491308ae42443d01faae
https://doi.org/10.1002/jnr.20123
https://doi.org/10.1002/jnr.20123
Autor:
Kirsi Sainio, Jukka Huttunen, Leena Lauronen, Erika Kirveskari, Pirkko Santavuori, Heidi Wikström, Taina Autti
Publikováno v:
Clinical Neurophysiology. 113:1491-1500
Objectives : To examine in detail the activation of the primary (SI) and secondary (SII) somatosensory cortex in CLN5, the Finnish variant of late infantile neuronal ceroid lipofuscinoses (NCL). Methods : Somatory evoked magnetic fields were recorded
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07b1d90861e113a552ce6ff02bc74684
https://doi.org/10.1016/s1388-2457(02)00200-6
https://doi.org/10.1016/s1388-2457(02)00200-6
Publikováno v:
Neuropediatrics. 33:138-141
We studied striatal dopamine D1 and D2 receptors in patients with juvenile neuronal ceroid lipofuscinosis (JNCL) with positron emission tomography (PET) using a dopamine D1 receptor antagonist [ 11 C]NNC 756 and a dopamine D2 receptor antagonist [ 11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5984745f7cd423197dbd2d9be9c1b58
https://doi.org/10.1055/s-2002-33677
https://doi.org/10.1055/s-2002-33677
Autor:
Pirkko Santavuori, Ulla M. Saarinen-Pihkala, Taina Autti, Tuula Lönnqvist, Kim Vettenranta, S-L. Vanhanen, Juhani Rapola
Publikováno v:
University of Helsinki
Objective: To study the effect of allogeneic hematopoietic stem cell transplantation (SCT) on the clinical course of infantile neuronal ceroid lipofuscinosis (INCL), a lysosomal storage disease. Background: INCL is a progressive encephalopathy with s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d9ba33fdd90815a85359d99d3dd0006
https://doi.org/10.1212/wnl.57.8.1411
https://doi.org/10.1212/wnl.57.8.1411
Publikováno v:
Journal of Child Neurology. 16:707-713
To examine the nature of sleep disturbance in patients with a variant form of late infantile neuronal ceroid lipofuscinosis (CLNS), we studied 12 patients (age range 7-32 years). We used a sleep questionnaire to assess sleep and its disturbances quan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7d36c550afe30e2e1d60cfd453627a7
https://doi.org/10.1177/088307380101601001
https://doi.org/10.1177/088307380101601001
Autor:
Pirkko Santavuori, L. Åberg, R. Moren, Sirkka Lamminranta, Taina Autti, T. Laine, J. Kaukoranta
Publikováno v:
Journal of Intellectual Disability Research. 45:8-17
The aim of the present study was to develop a neuropsychological test battery for patients with juvenile neuronal ceroid lipofuscinosis (JNCL) and to study the development of cognitive functions during the first 5 years after diagnosis. Fourteen pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43c384895659a6dadaf9e2303c10a7c5
https://doi.org/10.1046/j.1365-2788.2001.00288.x
https://doi.org/10.1046/j.1365-2788.2001.00288.x
Autor:
Mona-Lisa Engman, Gunilla Malm, Pirkko Santavuori, Jan Ygge, Mikael Mosskin, Kristina Teär Fahnehjelm
Publikováno v:
Acta Ophthalmologica Scandinavica. 79:72-75
Purpose: To describe a child with Muscle-Eye-Brain disease (MEB), one of three types of congenital muscular dystrophy associated with ocular abnormalities. Methods: Case report. Results: The child showed severe visual impairment due to progressive my
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60a71c2a85350962478a7ce14c992b38
https://doi.org/10.1034/j.1600-0420.2001.079001072.x
https://doi.org/10.1034/j.1600-0420.2001.079001072.x
Publikováno v:
European Journal of Paediatric Neurology. 5:179-183
Fourteen patients with a confirmed diagnosis of juvenile neuronal ceroid lipofuscinosis (JNCL) (aged 6–12.5 years at the beginning of the study) were prospectively followed for 5 years. An electroencephalogram (EEG) was recorded and analysed both v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16cfa829c90f92e1f20ab7fc9d46b1a9
https://doi.org/10.1053/ejpn.2000.0458
https://doi.org/10.1053/ejpn.2000.0458