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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A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases
Verheijen, Frans W, Verbeek, Elly, Aula, Nina, Beerens, Cecile E.M.T, Havelaar, Adrie C, Joosse, Marijke, Peltonen, Leena, Aula, Pertti, Galjaard, Hans, van der Spek, Peter J, Mancini, Grazia M.S
Published in Nature genetics (01.12.1999)
Published in Nature genetics (01.12.1999)
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The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation
Aula, Nina, Salomäki, Pirjo, Timonen, Ritva, Verheijen, Frans, Mancini, Grazia, Månsson, Jan-Eric, Aula, Pertti, Peltonen, Leena
Published in American journal of human genetics (01.10.2000)
Published in American journal of human genetics (01.10.2000)
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Sialin expression in the CNS implicates extralysosomal function in neurons
Aula, Nina, Kopra, Outi, Jalanko, Anu, Peltonen, Leena
Published in Neurobiology of disease (01.03.2004)
Published in Neurobiology of disease (01.03.2004)
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Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients
JOENSUU, Tarja, KURONEN, Mervi, LEHESJOKI, Anna-Elina, ALAKURTTI, Kirsi, TEGELBERG, Saara, HAKALA, Paula, AALTO, Antti, HUOPANIEMI, Laura, AULA, Nina, MICHELLUCCI, Roberto, ERIKSSON, Kai
Published in European journal of human genetics : EJHG (01.02.2007)
Published in European journal of human genetics : EJHG (01.02.2007)
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Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients
Joensuu, Tarja, Kuronen, Mervi, Alakurtti, Kirsi, Tegelberg, Saara, Hakala, Paula, Aalto, Antti, Huopaniemi, Laura, Aula, Nina, Michellucci, Roberto, Eriksson, Kai, Lehesjoki, Anna-Elina
Published in European journal of human genetics : EJHG (01.02.2007)
Published in European journal of human genetics : EJHG (01.02.2007)
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Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families
Salomäki, Pirjo, Aula, Nina, Juvonen, Vesa, Renlund, Martin, Aula, Pertti
Published in Prenatal diagnosis (01.05.2001)
Published in Prenatal diagnosis (01.05.2001)
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