Von Schantz, Carina, Saharinen, Juha, Kopra, Outi, Cooper, Jonathan D, Gentile, Massimiliano, Hovatta, Iiris, ...
Abstract Background The neuronal ceroid lipofuscinoses (NCL) are a group of children's inherited neurodegenerative disorders, characterized by blindness, early dementia and pronounced cortical...
Lyly, Annina, Marjavaara, Sanna K., Kyttälä, Aija, Uusi-Rauva, Kristiina, Luiro, Kaisu, Kopra, Outi, ...
Infantile neuronal ceroid lipofuscinosis (INCL) is a severe neurodegenerative disease caused by deficiency of palmitoyl protein thioesterase 1 (PPT1). INCL results in dramatic loss of thalamocortical...
Lyly, Annina, Von Schantz, Carina, Salonen, Tarja, Kopra, Outi, Saarela, Jani, Jauhiainen, Matti, ...
Abstract Background Neuronal ceroid lipofuscinoses (NCLs) are collectively the most common type of recessively inherited childhood encephalopathies. The most severe form of NCL, infantile neuronal...
Lonka, Liina, Aalto, Antti, Kopra, Outi, Kuronen, Mervi, Kokaia, Zaal, Saarma, Mart, ...
Abstract Background The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by accumulation of autofluorescent material in many tissues,...
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1 (2005)
Mee, Lisa, Honkala, Heli, Kopra, Outi, Vesa, Jouni, Finnilä, Saara, Visapää, Ilona, ...
Hydrolethalus syndrome (HLS) is an autosomal recessive lethal malformation syndrome characterized by multiple developmental defects of fetus. We have earlier mapped and restricted the HLS region to a...
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1 (2005)
Mee, Lisa, Honkala, Heli, Kopra, Outi, Vesa, Jouni, Finnilä, Saara, Visapää, Ilona, ...
Hydrolethalus syndrome (HLS) is an autosomal recessive lethal malformation syndrome characterized by multiple developmental defects of fetus. We have earlier mapped and restricted the HLS region to a...
Kopra, Outi, Vesa, Jouni, Von Schantz, Carina, Manninen, Tuula, Minye, Helena, Fabritius, Anna-Liisa, ...
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...
Kopra, Outi, Vesa, Jouni, Von Schantz, Carina, Manninen, Tuula, Minye, Helena, Fabritius, Anna-Liisa, ...
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...
Kopra, Outi, Vesa, Jouni, Von Schantz, Carina, Manninen, Tuula, Minye, Helena, Fabritius, Anna-Liisa, ...
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...
MOLECULAR DEFECT OF THE RAPADILINO SYNDROME EXPANDS THE PHENOTYPE SPECTRUM OF RECQL DISEASES (2003)
Siitonen, H. Annika, Kopra, Outi, Kääriäinen, Helena, Haravuori, Henna, Winter, Robin M., Säämänen, Anna-Marja, ...
The RECQL4 helicase gene is a member of the RECQL gene family, mutated in some Rothmund-Thomson syndrome (RTS) patients. Other members of this gene family are BLM mutated in Bloom syndrome, WRN...
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases (2003)
Siitonen, H. Annika, Kopra, Outi, Kääriäinen, Helena, Haravuori, Henna, Winter, Robin M., Säämänen, Anna-Marja, ...
The RECQL4 helicase gene is a member of the RECQL gene family, mutated in some Rothmund–Thomson syndrome (RTS) patients. Other members of this gene family are BLM mutated in Bloom syndrome, WRN...
MOLECULAR DEFECT OF THE RAPADILINO SYNDROME EXPANDS THE PHENOTYPE SPECTRUM OF RECQL DISEASES (2003)
Siitonen, H. Annika, Kopra, Outi, Kääriäinen, Helena, Haravuori, Henna, Winter, Robin M., Säämänen, Anna-Marja, ...
The RECQL4 helicase gene is a member of the RECQL gene family, mutated in some Rothmund-Thomson syndrome (RTS) patients. Other members of this gene family are BLM mutated in Bloom syndrome, WRN...
Luiro, Kaisu, Kopra, Outi, Lehtovirta, Maarit, Jalanko, Anu
Batten disease (juvenile neuronal ceroid lipofuscinosis, JNCL), the most common neurodegenerative disease of childhood, is caused by mutations in the CLN3 gene encoding a putative transmembrane...