Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis
Kousi, Maria, Siintola, Eija, Dvorakova, Lenka, Vlaskova, Hana, Turnbull, Julie, Topcu, Meral, Yuksel, Deniz, Gokben, Sarenur, Minassian, Berge A., Elleder, Milan, Mole, Sara E., Lehesjoki, Anna-Elina
Published in Brain (London, England : 1878) (01.03.2009)
Published in Brain (London, England : 1878) (01.03.2009)
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The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter
Siintola, Eija, Topcu, Meral, Aula, Nina, Lohi, Hannes, Minassian, Berge A., Paterson, Andrew D., Liu, Xiao-Qing, Wilson, Callum, Lahtinen, Ulla, Anttonen, Anna-Kaisa, Lehesjoki, Anna-Elina
Published in American journal of human genetics (01.07.2007)
Published in American journal of human genetics (01.07.2007)
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Molecular genetics of the NCLs — status and perspectives
Siintola, Eija, Lehesjoki, Anna-Elina, Mole, Sara E
Published in Biochimica et biophysica acta (01.10.2006)
Published in Biochimica et biophysica acta (01.10.2006)
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Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10)
Fritchie, Karen, Siintola, Eija, Armao, Diane, Lehesjoki, Anna-Elina, Marino, Thomas, Powell, Cynthia, Tennison, Michael, Booker, Jessica M., Koch, Sabine, Partanen, Sanna, Suzuki, Kinuko, Tyynelä, Jaana, Thorne, Leigh B.
Published in Acta neuropathologica (01.02.2009)
Published in Acta neuropathologica (01.02.2009)
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Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome
ANTTONEN, Anna-Kaisa, SIINTOLA, Eija, TRANEBJAERG, Lisbeth, IWATA, Nobue K, BIJISMA, Emilia K, MEGURO, Hiroyuki, ICHIKAWA, Yaeko, GOTO, Jun, KOPRA, Outi, LEHESJOKI, Anna-Elina
Published in European journal of human genetics : EJHG (01.08.2008)
Published in European journal of human genetics : EJHG (01.08.2008)
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Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells
Lonka, Liina, Salonen, Tarja, Siintola, Eija, Kopra, Outi, Lehesjoki, Anna-Elina, Jalanko, Anu
Published in Journal of neuroscience research (15.06.2004)
Published in Journal of neuroscience research (15.06.2004)
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Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
Siintola, Eija, Partanen, Sanna, Strömme, Petter, Haapanen, Aleksi, Haltia, Matti, Maehlen, Jan, Lehesjoki, Anna-Elina, Tyynelä, Jaana
Published in Brain (London, England : 1878) (01.06.2006)
Published in Brain (London, England : 1878) (01.06.2006)
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ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss
Anttonen, Anna-Kaisa, Laari, Anni, Kousi, Maria, Yang, Yawei J, Jääskeläinen, Tiina, Somer, Mirja, Siintola, Eija, Jakkula, Eveliina, Muona, Mikko, Tegelberg, Saara, Lönnqvist, Tuula, Pihko, Helena, Valanne, Leena, Paetau, Anders, Lun, Melody P, Hästbacka, Johanna, Kopra, Outi, Joensuu, Tarja, Katsanis, Nicholas, Lehtinen, Maria K, Palvimo, Jorma J, Lehesjoki, Anna-Elina
Published in Brain (London, England : 1878) (01.05.2017)
Published in Brain (London, England : 1878) (01.05.2017)
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Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjoegren syndrome
Anttonen, Anna-Kaisa, Siintola, Eija, Tranebjaerg, Lisbeth, Iwata, Nobue K, Bijlsma, Emilia K, Meguro, Hiroyuki, Ichikawa, Yaeko, Goto, Jun, Kopra, Outi, Lehesjoki, Anna-Elina
Published in European journal of human genetics : EJHG (01.08.2008)
Published in European journal of human genetics : EJHG (01.08.2008)
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