Zobrazeno 1 - 10
of 160
pro vyhledávání: '"Juhani Rapola"'
Autor:
Anu Jalanko, Jouni Vesa, Tuula Manninen, Carina von Schantz, Helena Minye, Anna-Liisa Fabritius, Tarja Salonen, Juhani Rapola, Massimiliano Gentile, Outi Kopra, Leena Peltonen
Publikováno v:
Neurobiology of Disease, Vol 18, Iss 1, Pp 226-241 (2005)
Infantile Neuronal Ceroid Lipofuscinosis (INCL) results from mutations in the palmitoyl protein thioesterase (PPT1, CLN1) gene and is characterized by dramatic death of cortical neurons. We generated Ppt1Δex4 mice by a targeted deletion of exon 4 of
Externí odkaz:
https://doaj.org/article/9f070bfc93fe462c91c2552ca1be77fa
Autor:
Judit Mäkinen, Juhani Rapola
Publikováno v:
Acta Pathologica Microbiologica Scandinavica Section A Pathology. :237-244
A ten-year series of renal tumours in children up to 14 years of age was collected from the files of the Finnish Cancer Register. After histological evaluation of the material, 74 cases were accepted as primary renal tumours. Fifty-eight of these wer
Autor:
Juhani Rapola, E. Pesonen
Publikováno v:
Acta Pathologica Microbiologica Scandinavica Section A Pathology. :286-296
The main branch of the left coronary artery of 14 autopsied newborn babies was studied both in light and electron microscopy. Intimal and medial changes of varying severity were found in most cases. The lesions show edema and suggest insudation of th
Publikováno v:
Clinical Genetics. 28:151-156
Two sisters, products of a consanguineous marriage (with a total of 12 children) showed muscle weakness at ages 7 and 6 yrs, respectively. The symptoms progressed rapidly and the patients were confined to wheelchairs at ages of 12 and 11 yrs, respect
Publikováno v:
Clinical Genetics. 18:1-5
During a 3-year period in which 1500 amniotic fluid samples were studied, six cases of sex chromosome abnoramlity were detected antenatally: two with XXX, three with XYY and one with XXXXY sex chromosome constitution. After careful counselling, the p
Autor:
Pertti Aula, Juhani Rapola
Publikováno v:
Clinical Genetics. 11:107-113
Placentas were studied from three interrupted pregnancies of a mother whose first liveborn child had I-cell disease (mucolipidosis II). I-cell disease of the fetus was shown by investigation of the amniotic fluid, fetal cells and the aborted fetus in
Autor:
Anna-Liisa Fabritius, Janna Saarela, Helena Minye, Otto P. van Diggelen, Carina von Schantz, Leena Peltonen, Anu Jalanko, Outi Kopra, Jouni Vesa, Juhani Rapola, Tuula Manninen
Publikováno v:
Human Molecular Genetics, 13(23), 2893-2906. Oxford University Press
Neuronal ceroid lipofuscinoses (NCL) comprise the most common group of childhood encephalopathies caused by mutations in eight genetic loci, CLN1-CLN8. Here, we have developed a novel mouse model for the human vLINCL (CLN5) by targeted deletion of ex
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
Autor:
Hannu Somer, Pirkko Santavuori, S Soinila, Matti Haltia, Ismo Virtanen, Helena Pihko, I. Leivo, Juhani Rapola, Mari Auranen, Hannu Kalimo, L.V.B. Anderson
Publikováno v:
Neuromuscular Disorders. 10:16-23
Muscle-eye-brain disease belongs to congenital muscular dystrophies with central nervous system abnormalities. The etiology of MEB is still unknown, but abnormal immunoreactivity for laminin-2 has been reported. To evaluate disease progression in mus
Publikováno v:
Prenatal Diagnosis. 19:685-688
The first prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCLFinnish; CLN5) is reported. The disease belongs to the group of progressive encephalopathies in children with psycho-motor deterioration, visual failure and