Search Results - Anttonen, A-K

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  1. 1
    Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin

    Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin by Siintola, E, Topcu, M, Kohlschütter, A, Salonen, T, Joensuu, T, Anttonen, A-K, Lehesjoki, A-E

    Published in Clinical genetics
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  2. 2
    Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype

    Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype by Horvers, M, Anttonen, A.K, Lehesjoki, A.E, Morava, E, Wortmann, S, Vermeer, S, van de Warrenburg, B.P, Willemsen, M.A

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  3. 3
    Myopathy is a prominent feature in Marinesco-Sjögren syndrome : A muscle computed tomography study

    Myopathy is a prominent feature in Marinesco-Sjögren syndrome : A muscle computed tomography study by MAHJNEH, Ibrahim, ANTTONEN, Anna-Kaisa, SOMER, Mirja, PAETAU, Anders, LEHESJOKI, Anna-Elina, SOMER, Hannu, UDD, Bjarne

    Published in Journal of neurology
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  4. 4
    The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter

    The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter by 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

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  5. 5
    Marinesco-Sjoegren syndrome due to SIL1 mutations with a comment on the clinical phenotype

    Marinesco-Sjoegren syndrome due to SIL1 mutations with a comment on the clinical phenotype by Horvers, M, Anttonen, A K, Lehesjoki, A E, Morava, E, Wortmann, S, Vermeer, S, van de Warrenburg, BP, Willemsen, MA

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  6. 6
    Short Report: Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin

    Short Report: Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin by Siintola, E, Topcu, M, Kohlschütter, A, Salonen, T, Joensuu, T, A-K Anttonen, A-E Lehesjoki

    Published in Clinical genetics
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  7. 7
    FOG-2 and GATA-4 are coexpressed in the mouse ovary and can modulate müllerian-inhibiting substance expression

    FOG-2 and GATA-4 are coexpressed in the mouse ovary and can modulate müllerian-inhibiting substance expression by ANTTONEN, Mikko, KETOLA, Ilkka, PARVIAINEN, Helka, PUSA, Anna-Kaisa, HEIKINHEIMO, Markku

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