Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Eija Siintola"'
Autor:
Anna-Elina Lehesjoki, Maria Kousi, Mikko Muona, Melody P. Lun, Saara Tegelberg, Jorma J. Palvimo, Yawei J. Yang, Eija Siintola, Nicholas Katsanis, Anna-Kaisa Anttonen, Tiina Jääskeläinen, Maria K. Lehtinen, Outi Kopra, Tuula Lönnqvist, Tarja Joensuu, Anni Laari, Leena Valanne, Anders Paetau, Helena Pihko, Eveliina Jakkula, Johanna Hästbacka, Mirja Somer
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy (PEHO) syndrome is an early childhood onset, severe autosomal recessive encephalopathy characterized by extreme cerebellar atrophy due to almost total granule neuron loss. By c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e57c728af294d212877994fa5b02cfe
http://hdl.handle.net/10138/304497
http://hdl.handle.net/10138/304497
Autor:
Meral Topçu, Sarenur Gökben, Milan Elleder, Sara E. Mole, Berge A. Minassian, Hana Vlaskova, Julie Turnbull, Eija Siintola, Anna-Elina Lehesjoki, Deniz Yüksel, Maria Kousi, Lenka Dvorakova
Publikováno v:
Brain. 132:810-819
WOS: 000264889000024
PubMed ID: 19201763
The neuronal ceroid lipofuscinoses (NCLs), the most common neurodegenerative disorders of childhood, are characterized by the accumulation of autofluorescent storage material mainly in neurons. Altho
PubMed ID: 19201763
The neuronal ceroid lipofuscinoses (NCLs), the most common neurodegenerative disorders of childhood, are characterized by the accumulation of autofluorescent storage material mainly in neurons. Altho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79424c3603c1c855154d8642246ab5a3
https://doi.org/10.1093/brain/awn366
https://doi.org/10.1093/brain/awn366
Autor:
Cynthia M. Powell, Anna-Elina Lehesjoki, Jaana Tyynelä, Sabine Koch, Jessica M. Booker, Michael B. Tennison, Karen J. Fritchie, Diane Armao, Thomas Marino, Kinuko Suzuki, Leigh B. Thorne, Sanna Partanen, Eija Siintola
Publikováno v:
Acta Neuropathologica. 117:201-208
The neuronal ceroid lipofuscinoses (NCLs) are autosomal recessively inherited disorders collectively considered to be one among the most common pediatric neurodegenerative lysosomal storage diseases. Four main clinical subtypes have been described ba
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e690d98659b51465ef944dc7ec4098ec
https://doi.org/10.1007/s00401-008-0426-7
https://doi.org/10.1007/s00401-008-0426-7
Autor:
Eija Siintola, Nina Aula, Hannes Lohi, Xiao-Qing Liu, Meral Topçu, Ulla Lahtinen, Callum Wilson, Anna-Kaisa Anttonen, Andrew D. Paterson, Berge A. Minassian, Anna-Elina Lehesjoki
Publikováno v:
The American Journal of Human Genetics. 81:136-146
The late-infantile-onset forms are the most genetically heterogeneous group among the autosomal recessively inherited neurodegenerative disorders, the neuronal ceroid lipofuscinoses (NCLs). The Turkish variant was initially considered to be a distinc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c49b5ed87574cb239dc4a7a116900b9
https://doi.org/10.1086/518902
https://doi.org/10.1086/518902
Autor:
Jan Maehlen, Aleksi Haapanen, Anna-Elina Lehesjoki, Jaana Tyynelä, Petter Strømme, Sanna Partanen, Matti Haltia, Eija Siintola
Publikováno v:
Brain. 129:1438-1445
Congenital neuronal ceroid-lipofuscinosis (NCL) is a devastating inherited neurodegenerative disorder of unknown metabolic basis. Eight patients with this rare disorder, all with similar clinical and neuropathological findings, have been reported, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68fddb4ff53b136f004e75c21ff2f03e
https://doi.org/10.1093/brain/awl107
https://doi.org/10.1093/brain/awl107
Autor:
Tarja Salonen, Anna-Elina Lehesjoki, Anna-Kaisa Anttonen, Meral Topçu, Alfried Kohlschütter, Tarja Joensuu, Eija Siintola
Publikováno v:
Clinical Genetics. 68:167-173
Neuronal ceroid lipofuscinoses (NCLs) are the most common neurodegenerative childhood-onset disorders characterized by autosomal recessive inheritance, epileptic seizures, progressive psychomotor deterioration, visual failure, and premature death. At
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6a262ff90fd983c38635dd6f6f7695f1
https://doi.org/10.1111/j.1399-0004.2005.00471.x
https://doi.org/10.1111/j.1399-0004.2005.00471.x
Publikováno v:
Journal of Neuroscience Research. 76:862-871
Neuronal ceroid lipofuscinoses (NCLs) are a group of childhood-onset neurodegenerative disorders characterized by accumulation of autofluorescent lipopigment in many tissues, especially in neurons. Mutations in the CLN8 gene underlie Northern epileps
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c1ff9e7f348cd249deb23703d91f4ca
https://doi.org/10.1002/jnr.20133
https://doi.org/10.1002/jnr.20133
Autor:
Outi Kopra, Anna-Kaisa Anttonen, Emilia K. Bijlsma, Hiroyuki Meguro, Eija Siintola, Lisbeth Tranebjærg, Yaeko Ichikawa, Jun Goto, Anna-Elina Lehesjoki, Nobue K. Iwata
Publikováno v:
European journal of human genetics : EJHG. 16(8)
Marinesco-Sjogren syndrome (MSS) is a rare autosomal recessively inherited neurodegenerative disorder characterized by cerebellar ataxia, cataracts, mental retardation, and progressive myopathy. Recently, mutations in the SIL1 gene, which encodes an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffe08f155678c9fc60ccedbd85ace308
https://pubmed.ncbi.nlm.nih.gov/18285827
https://pubmed.ncbi.nlm.nih.gov/18285827
Autor:
Eija Siintola, Sanna Partanen
Publikováno v:
Brain: A Journal of Neurology; Jun2006, Vol. 129 Issue 6, p1438-1445, 8p
Publikováno v:
Journal of Neuroscience Research; 6/15/2004, Vol. 76 Issue 6, p862-871, 10p