Resultats de la cerca - Anna‐Elina Lehesjoki

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  1. 1
    Molecular background of EPM1—Unverricht–Lundborg disease

    Molecular background of EPM1—Unverricht–Lundborg disease per Tarja Joensuu, Anna‐Elina Lehesjoki, Outi Kopra

    Publicat 2007
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  2. 2
    Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

    Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses per Maria Kousi, Anna‐Elina Lehesjoki, Sara Mole

    Publicat 2011
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  3. 3
    Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population‐based study

    Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population‐based study per Eija Gaily, Markus Lommi, Risto Lapatto, Anna‐Elina Lehesjoki

    Publicat 2016
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  4. 4
    Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy

    Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy per Jodie N. Painter, Miia Savander, Anne Ropponen, Nina N. Nupponen, Seija Riikonen, Olavi Ylikorkala, Anna‐Elina Lehesjoki, Kristiina Aittomäki

    Publicat 2005
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  5. 5
    Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping

    Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping per Bru Cormand, Kristiina Avela, Helena Pihko, Pirkko Santavuori, Beril Talim, Haluk Topaloğlu, Albert de la Chapelle, Anna‐Elina Lehesjoki

    Publicat 1999
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  6. 6
    Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults

    Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults per Riikka E. Mäkitie, Maria K. Haanpää, Helena Valta, Minna Pekkinen, Christine Lainé, Anna‐Elina Lehesjoki, Camilla Schalin‐Jäntti, Outi Mäkitie

    Publicat 2016
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  7. 7
    Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations

    Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations per Kirsi Alakurtti, Ekkehard Weber, Riitta Rinne, Gerit Theil, Gerrit‐Jan de Haan, Dick Lindhout, Paula Salmikangas, Pekka Saukko, Ulla Lahtinen, Anna‐Elina Lehesjoki

    Publicat 2004
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  8. 8
    Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients

    Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients per Tarja Joensuu, Mervi Kuronen, Kirsi Alakurtti, Saara Tegelberg, Paula Hakala, Antti Aalto, Laura Huopaniemi, Nina Aula, Roberto Michellucci, Kai Eriksson, Anna‐Elina Lehesjoki

    Publicat 2006
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  9. 9
    Mutations in CTC1 , Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts

    Mutations in CTC1 , Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts per Anne Polvi, Tarja Linnankivi, Tero Kivelä, Riitta Herva, James Keating, Outi Mäkitie, Davide Pareyson, Leena Vainionpää, Jenni Lahtinen, Iiris Hovatta, Helena Pihko, Anna-Elina Lehesjoki

    Publicat 2012
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  10. 10
    Cystatin B Deficiency Sensitizes Neurons to Oxidative Stress in Progressive Myoclonus Epilepsy, EPM1

    Cystatin B Deficiency Sensitizes Neurons to Oxidative Stress in Progressive Myoclonus Epilepsy, EPM1 per Maria K. Lehtinen, Saara Tegelberg, Hyman M. Schipper, Haixiang Su, Hillel Zukor, Otto Manninen, Outi Kopra, Tarja Joensuu, Paula Hakala, Azad Bonni, Anna‐Elina Lehesjoki

    Publicat 2009
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  11. 11
    Gene Expression Alterations in the Cerebellum and Granule Neurons of Cstb−/− Mouse Are Associated with Early Synaptic Changes and Inflammation

    Gene Expression Alterations in the Cerebellum and Granule Neurons of Cstb−/− Mouse Are Associated with Early Synaptic Changes and Inflammation per Tarja Joensuu, Saara Tegelberg, Eva Reinmaa, Mikael Segerstråle, Paula Hakala, Heidi Pehkonen, Esa R. Korpi, Jaana Tyynelä, Tomi Taira, Iiris Hovatta, Outi Kopra, Anna‐Elina Lehesjoki

    Publicat 2014
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  12. 12
    The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter

    The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter per Eija Siintola, Meral Topçu, Nina Aula, Hannes Lohi, Berge A. Minassian, Andrew D. Paterson, Xiaoqing Liu, Callum Wilson, Ulla Lahtinen, Anna-Kaisa Anttonen, Anna-Elina Lehesjoki

    Publicat 2007
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  13. 13
    Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

    Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis per Maria Kousi, Eija Siintola, Lenka Dvořáková, Hana Vlášková, Julie Turnbull, Meral Topçu, Deniz Yüksel, Sarenur Gökben, Berge A. Minassian, M. Elleder, Sara Mole, Anna-Elina Lehesjoki

    Publicat 2009
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  14. 14
    Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy

    Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy per Susanna Ranta, Meral Topçu, Saara Tegelberg, Hüseyin Tan, Alp Üstübütün, Işıl Saatçi, Andreas Dufke, H. Enders, Keith Pohl, Yves Alembik, Wayne Mitchell, Sara Mole, Anna‐Elina Lehesjoki

    Publicat 2004
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  15. 15
    A Novel Splice Mutation in <i>PLS3</i> Causes X-linked Early Onset Low-Turnover Osteoporosis

    A Novel Splice Mutation in <i>PLS3</i> Causes X-linked Early Onset Low-Turnover Osteoporosis per Christine Lainé, Maija Wessman, Sanna Toiviainen‐Salo, Mari Kaunisto, Mervi K Mäyränpää, Tero Laine, Minna Pekkinen, Heikki Kröger, Ville‐Valtteri Välimäki, Matti Välimäki, Anna‐Elina Lehesjoki, Outi Mäkitie

    Publicat 2014
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  16. 16
    Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3

    Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3 per Tarja Joensuu, Riikka H. Hämäläinen, Bo Yuan, Cheryl K.H. Johnson, Saara Tegelberg, Paolo Gasparini, Leopoldo Zelante, Ulla Pirvola, Leenamaija Pakarinen, Anna‐Elina Lehesjoki, Albert de la Chapelle, Eeva‐Marja Sankila

    Publicat 2001
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  17. 17
    Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

    Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport per Juha Kolehmainen, Graeme Black, Anne Saarinen, Kate Chandler, Jill Clayton‐Smith, Ann‐Liz Träskelin, Rahat Perveen, Satu Kivitie‐Kallio, Reijo Norio, Mette Warburg, Jean‐Pierre Fryns, Albert de la Chapelle, Anna‐Elina Lehesjoki

    Publicat 2003
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  18. 18
    Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis

    Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis per Azita Sharifi, Maria Kousi, Corinne Sagné, Gian Carlo Bellenchi, Lydie Morel, Michèle Darmon, Helena Hůlková, Raquel Ruivo, Cécile Debacker, Salah El Mestikawy, M. Elleder, Anna‐Elina Lehesjoki, Anu Jalanko, Bruno Gasnier, Aija Kyttälä

    Publicat 2010
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  19. 19
    The GENCODE exome: sequencing the complete human exome

    The GENCODE exome: sequencing the complete human exome per Alison J Coffey, Felix Kokocinski, Maria S Calafato, Carol Scott, Priit Palta, Eleanor Drury, Christopher J. Joyce, Emily M LeProust, Jennifer Harrow, Sarah Hunt, Anna-Elina Lehesjoki, Daniel J. Turner, Tim Hubbard, Aarno Palotie

    Publicat 2011
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  20. 20
    Novel mutations consolidate<i>KCTD7</i>as a progressive myoclonus epilepsy gene

    Novel mutations consolidate<i>KCTD7</i>as a progressive myoclonus epilepsy gene per Maria Kousi, Verneri Anttila, Angela Schulz, Stella Calafato, Eveliina Jakkula, Erik Riesch, Liisa Myllykangas, Hannu Kalimo, Meral Topçu, Sarenur Gökben, Füsun Alehan, Johannes R. Lemke, Michael Alber, Aarno Palotie, Outi Kopra, Anna‐Elina Lehesjoki

    Publicat 2012
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