Works by Lehesjoki, Anna‐Elina

Results: 70

Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A.

Published in:

Epileptic Disorders, 2017, v. 19, n. 2, p. 147, doi. 10.1684/epd.2017.0911

By:

Özkara, Çiğdem;
Gündüz, Ayşegül;
Coşkun, Tülin;
Alpaslan, Bengi Gül;
Zeydan, Burcu;
Delil, Şakir;
Muona, Mikko;
Lehesjoki, Anna-Elina;
Kızıltan, Meral E.

Publication type:

Article

PRRT2 Mutations are the major cause of benign familial infantile seizures.

Published in:

Human Mutation, 2012, v. 33, n. 10, p. 1439, doi. 10.1002/humu.22126

By:

Schubert, Julian;
Paravidino, Roberta;
Becker, Felicitas;
Berger, Andrea;
Bebek, Nerses;
Bianchi, Amedeo;
Brockmann, Knut;
Capovilla, Giuseppe;
Dalla Bernardina, Bernardo;
Fukuyama, Yukio;
Hoffmann, Georg F.;
Jurkat-Rott, Karin;
Anttonen, Anna-Kaisa;
Kurlemann, Gerhard;
Lehesjoki, Anna-Elina;
Lehmann-Horn, Frank;
Mastrangelo, Massimo;
Mause, Ulrike;
Müller, Stephan;
Neubauer, Bernd

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 42, doi. 10.1002/humu.21624

By:

Kousi, Maria;
Lehesjoki, Anna-Elina;
Mole, Sara E.

Publication type:

Article

Novel mutations in the TRIM37 gene in Mulibrey Nanism.

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 522, doi. 10.1002/humu.9233

By:

Hämäläinen, Riikka H.;
Avela, Kristiina;
Lambert, Julie A.;
Kallijärvi, Jukka;
Eyaid, Wafaa;
Gronau, Jürgen;
Ignaszewski, Andrew P.;
McFadden, Deborah;
Sorge, Giovanni;
Lipsanen-Nyman, Marita;
Lehesjoki, Anna-Elina

Publication type:

Article

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

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 300, doi. 10.1002/humu.20018

By:

Ranta, Susanna;
Topcu, Meral;
Tegelberg, Saara;
Tan, Hüseyin;
Üstübütün, Alp;
Saatci, Isil;
Dufke, Andreas;
Enders, Herbert;
Pohl, Keith;
Alembik, Yves;
Mitchell, Wayne A.;
Mole, Sara E.;
Lehesjoki, Anna-Elina

Publication type:

Article

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 961, doi. 10.1038/ejhg.2008.22

By:

Anttonen, Anna-Kaisa;
Siintola, Eija;
Tranebjaerg, Lisbeth;
Iwata, Nobue K;
Bijlsma, Emilia K;
Meguro, Hiroyuki;
Ichikawa, Yaeko;
Goto, Jun;
Kopra, Outi;
Lehesjoki, Anna-Elina

Publication type:

Article

Linkage and association analysis of CACNG3 in childhood absence epilepsy.

Published in:

2008

By:

Everett, Kate;
Chioza, Barry;
Aicardi, Jean;
Aschauer, Harald;
Brouwer, Oebele;
Callenbach, Petra;
Covanis, Athanasios;
Dulac, Olivier;
Eeg-Olofsson, Orvar;
Feucht, Martha;
Friis, Mogens;
Goutieres, Françoise;
Guerrini, Renzo;
Heils, Armin;
Kjeldsen, Marianne;
Lehesjoki, Anna-Elina;
Makoff, Andrew;
Nabbout, Rima;
Olsson, Ingrid;
Sander, Thomas

Publication type:

Erratum

Linkage and association analysis of CACNG3 in childhood absence epilepsy.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 4, p. 463, doi. 10.1038/sj.ejhg.5201783

By:

Everett, Kate V.;
Chioza, Barry;
Aicardi, Jean;
Aschauer, Harald;
Brouwer, Oebele;
Callenbach, Petra;
Covanis, Athanasios;
Dulac, Olivier;
Eeg-Olofsson, Orvar;
Feucht, Martha;
Friis, Mogens;
Goutieres, Françoise;
Guerrini, Renzo;
Heils, Armin;
Kjeldsen, Marianne;
Lehesjoki, Anna-Elina;
Makoff, Andrew;
Nabbout, Rima;
Olsson, Ingrid;
Sander, Thomas

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 185, doi. 10.1038/sj.ejhg.5201723

By:

Joensuu, Tarja;
Kuronen, Mervi;
Alakurtti, Kirsi;
Tegelberg, Saara;
Hakala, Paula;
Aalto, Antti;
Huopaniemi, Laura;
Aula, Nina;
Michellucci, Roberto;
Eriksson, Kai;
Lehesjoki, Anna-Elina

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 435, doi. 10.1038/sj.ejhg.5201355

By:

Painter, Jodie N.;
Savander, Miia;
Ropponen, Anne;
Nupponen, Nina;
Riikonen, Seija;
Ylikorkala, Olavi;
Lehesjoki, Anna-Elina;
Aittomäki, Kristiina

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 2, p. 208, doi. 10.1038/sj.ejhg.5201300

By:

Alakurtti, Kirsi;
Weber, Ekkehard;
Rinne, Riitta;
Theil, Gerit;
de Haan, Gerrit-Jan;
Lindhout, Dick;
Salmikangas, Paula;
Saukko, Pekka;
Lahtinen, Ulla;
Lehesjoki, Anna-Elina

Publication type:

Article

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

Published in:

2005

By:

Alakurtti, Kirsi;
Weber, Ekkehard;
Rinne, Riitta;
Theil, Gerit;
de Haan, Gerrit-Jan;
Lindhout, Dick;
Salmikangas, Paula;
Saukko, Pekka;
Lahtinen, Ulla;
Lehesjoki, Anna-Elina

Publication type:

Correction Notice

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 6, p. 339, doi. 10.1038/sj.ejhg.5200831

By:

Adato, Avital;
Vreugde, Sarah;
Joensuu, Tarja;
Avidan, Nili;
Hamalainen, Riikka;
Belenkiy, Olga;
Olender, Tsviya;
Bonne-Tamir, Batsheva;
Ben-Asher, Edna;
Espinos, Carmen;
Millan, Jose M.;
Lehesjoki, Anna-Elina;
Flannery, John G.;
Avraham, Karen B.;
Pietrokovski, Shmuel;
Sankila, Eeva-Marja;
Beckmann, Jacques S.;
Lancet, Doron

Publication type:

Article

Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 5, p. 381, doi. 10.1038/sj.ejhg.5200440

By:

Ranta, Susanna;
Zhang, Yonghui;
Ross, Barbara;
Takkunen, Elina;
Hirvasniemi, Aune;
de la Chapelle, Albert;
Gilliam, T Conrad;
Lehesjoki, Anna-Elina

Publication type:

Article

Rare gene deletions in genetic generalized and Rolandic epilepsies.

Published in:

PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0202022

By:

Jabbari, Kamel;
Bobbili, Dheeraj R.;
Lal, Dennis;
Reinthaler, Eva M.;
Schubert, Julian;
Wolking, Stefan;
Sinha, Vishal;
Motameny, Susanne;
Thiele, Holger;
Kawalia, Amit;
Altmüller, Janine;
Toliat, Mohammad Reza;
Kraaij, Robert;
van Rooij, Jeroen;
Uitterlinden, André G.;
Ikram, M. Arfan;
null, null;
Zara, Federico;
Lehesjoki, Anna-Elina;
Krause, Roland

Publication type:

Article

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

Published in:

Nature Genetics, 2015, v. 47, n. 4, p. 393, doi. 10.1038/ng.3239

By:

Syrbe, Steffen;
Bertsche, Astrid;
Bernhard, Matthias K;
Merkenschlager, Andreas;
Kiess, Wieland;
Serratosa, José M;
Nothnagel, Michael;
May, Patrick;
Krause, Roland;
Dorn, Thomas;
Vogt, Heinrich;
Krämer, Günter;
Mullis, Primus E;
Linnankivi, Tarja;
Lehesjoki, Anna-Elina;
Sterbova, Katalin;
Craiu, Dana C;
Hoffman-Zacharska, Dorota;
Hedrich, Ulrike B S;
Müller, Stephan

Publication type:

Article

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.

Published in:

Nature Genetics, 2005, v. 37, n. 12, p. 1309, doi. 10.1038/ng1677

By:

Anttonen, Anna-Kaisa;
Mahjneh, Ibrahim;
Hämäläinen, Riikka H.;
Lagier-Tourenne, Clotilde;
Kopra, Outi;
Waris, Laura;
Anttonen, Mikko;
Joensuu, Tarja;
Kalimo, Hannu;
Paetau, Anders;
Tranebjaerg, Lisbeth;
Chaigne, Denys;
Koenig, Michel;
Eeg-Olofsson, Orvar;
Udd, Bjarne;
Somer, Mirja;
Somer, Hannu;
Lehesjoki, Anna-Elina

Publication type:

Article

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism.

Published in:

Nature Genetics, 2000, v. 25, n. 3, p. 298, doi. 10.1038/77053

By:

Avela, Kristiina;
Lipsanen-Nyman, Marita;
Idänheimo, Niina;
Seemanová, Eva;
Rosengren, Sally;
Mäkelä, Tomi P.;
Perheentupa, Jaakko;
Chapelle, Albert de la;
Lehesjoki, Anna-Elina

Publication type:

Article

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.

Published in:

Nature Genetics, 1999, v. 23, n. 2, p. 233, doi. 10.1038/13868

By:

Ranta, Susanna;
Zhang, Yonghui;
Ross, Barbara;
Lonka, Liina;
Takkunen, Elina;
Messer, Anne;
Sharp, Julie;
Wheeler, Ruth;
Kusumi, Kenro;
Mole, Sara;
Liu, Wencheng;
Soares, Marcelo Bento;
de Fatima Bonaldo, Maria;
Hirvasniemi, Aune;
Chapelle, Albert de la;
Gilliam, T. Conrad;
Lehesjoki, Anna-Elina

Publication type:

Article

Myopathy is a prominent feature in Marinesco-Sjögren syndrome.

Published in:

Journal of Neurology, 2006, v. 253, n. 3, p. 301, doi. 10.1007/s00415-005-0983-9

By:

Mahjneh, Ibrahim;
Anttonen, Anna-Kaisa;
Somer, Mirja;
Paetau, Anders;
Lehesjoki, Anna-Elina;
Somer, Hannu;
Udd, Bjarne

Publication type:

Article

Tissue expression of the mulibrey nanism-associated Trim37 protein in embryonic and adult mouse tissues.

Published in:

Histochemistry & Cell Biology, 2006, v. 126, n. 3, p. 325, doi. 10.1007/s00418-006-0162-9

By:

Kallijärvi, Jukka;
Hämäläinen, Riikka;
Karlberg, Niklas;
Sainio, Kirsi;
Lehesjoki, Anna-Elina

Publication type:

Article

Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).

Published in:

2009

By:

Fritchie, Karen;
Siintola, Eija;
Armao, Diane;
Lehesjoki, Anna-Elina;
Marino, Thomas;
Powell, Cynthia;
Tennison, Michael;
Booker, Jessica;
Koch, Sabine;
Partanen, Sanna;
Suzuki, Kinuko;
Tyynelä, Jaana;
Thorne, Leigh

Publication type:

Report

Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy.

Published in:

Annals of Medicine, 2002, v. 34, n. 5, p. 380, doi. 10.1080/078538902320772124

By:

Rinne, Riitta;
Saukko, Pekka;
Järvinen, Mikko;
Lehesjoki, Anna-Elina

Publication type:

Article

Clinical features and genetics of progressive myoclonus epilepsy of the Unverricht-Lundborg type.

Published in:

Annals of Medicine, 1998, v. 30, n. 5, p. 474, doi. 10.3109/07853899809002489

By:

Lehesjoki, Anna-Elina;
Koskiniemi, Marjaleena

Publication type:

Article

Progressive Volume Loss and White Matter Degeneration in Cstb-Deficient Mice: A Diffusion Tensor and Longitudinal Volumetry MRI Study.

Published in:

PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090709

By:

Manninen, Otto;
Laitinen, Teemu;
Lehtimäki, Kimmo K.;
Tegelberg, Saara;
Lehesjoki, Anna-Elina;
Gröhn, Olli;
Kopra, Outi

Publication type:

Article

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

Published in:

PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0089321

By:

Joensuu, Tarja;
Tegelberg, Saara;
Reinmaa, Eva;
Segerstråle, Mikael;
Hakala, Paula;
Pehkonen, Heidi;
Korpi, Esa R.;
Tyynelä, Jaana;
Taira, Tomi;
Hovatta, Iiris;
Kopra, Outi;
Lehesjoki, Anna-Elina

Publication type:

Article

Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort.

Published in:

Brain Communications, 2024, v. 6, n. 3, p. 1, doi. 10.1093/braincomms/fcae142

By:

Järvelä, Irma;
Paetau, Ritva;
Rajendran, Yasmin;
Acharya, Anushree;
Bharadwaj, Thashi;
Leal, Suzanne M;
Lehesjoki, Anna-Elina;
Palomäki, Maarit;
Schrauwen, Isabelle

Publication type:

Article

Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-54866-4

By:

Lehtonen, Johanna;
Sulonen, Anna-Maija;
Almusa, Henrikki;
Lehtokari, Vilma-Lotta;
Johari, Mridul;
Palva, Aino;
Hakonen, Anna H.;
Wartiovaara, Kirmo;
Lehesjoki, Anna-Elina;
Udd, Bjarne;
Wallgren-Pettersson, Carina;
Pelin, Katarina;
Savarese, Marco;
Saarela, Janna

Publication type:

Article

Low density lipoprotein receptor-related protein 5 ( LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia.

Published in:

Clinical Endocrinology, 2010, v. 72, n. 4, p. 481, doi. 10.1111/j.1365-2265.2009.03680.x

By:

Saarinen, Anne;
Saukkonen, Tero;
Kivelä, Tero;
Lahtinen, Ulla;
Laine, Christine;
Somer, Mirja;
Toiviainen-Salo, Sanna;
Cole, William G.;
Lehesjoki, Anna-Elina;
Mäkitie, Outi

Publication type:

Article

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4483, doi. 10.1093/hmg/ddv171

By:

Damiano, John A.;
Afawi, Zaid;
Bahlo, Melanie;
Mauermann, Monika;
Misk, Adel;
Arsov, Todor;
Oliver, Karen L.;
Dahl, Hans-Henrik M.;
Shearer, A. Eliot;
Smith, Richard J. H.;
Hall, Nathan E.;
Mahmood, Khalid;
Leventer, Richard J.;
Scheffer, Ingrid E.;
Muona, Mikko;
Lehesjoki, Anna-Elina;
Korczyn, Amos D.;
Herrmann, Harald;
Berkovic, Samuel F.;
Hildebrand, Michael S.

Publication type:

Article

Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype.

Published in:

Clinical Genetics, 2020, v. 98, n. 5, p. 493, doi. 10.1111/cge.13827

By:

Knuutinen, Oula;
Pyle, Angela;
Suo‐Palosaari, Maria;
Duff, Jennifer;
Froukh, Tawfiq;
Lehesjoki, Anna‐Elina;
Kangas, Salla M.;
Cassidy, James;
Maraqa, Latifa;
Keski‐Filppula, Riikka;
Kokkonen, Hannaleena;
Uusimaa, Johanna;
Horvath, Rita;
Vieira, Päivi

Publication type:

Article

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

Published in:

2022

By:

Knoop, Marieke M van der;
Maroofian, Reza;
Fukata, Yuko;
Ierland, Yvette van;
Karimiani, Ehsan G;
Lehesjoki, Anna Elina;
Muona, Mikko;
Paetau, Anders;
Miyazaki, Yuri;
Hirano, Yoko;
Selim, Laila;
França, Marina de;
Fock, Rodrigo Ambrosio;
Beetz, Christian;
Ruivenkamp, Claudia A L;
Eaton, Alison J;
Morneau-Jacob, Francois D;
Sagi-Dain, Lena;
Shemer-Meiri, Lilach;
Peleg, Amir

Publication type:

journal article

Kufs or not Kufs: challenging diagnostics of a rare adult-onset neurodegenerative disease.

Published in:

2019

By:

Tyynelä, Jaana;
Lehesjoki, Anna-Elina

Publication type:

journal article

Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

Published in:

2017

By:

Anttonen, Anna-Kaisa;
Lehesjoki, Anna-Elina

Publication type:

Letter

CHD2 variants are a risk factor for photosensitivity in epilepsy.

Published in:

Brain: A Journal of Neurology, 2015, v. 138, n. 5, p. 1198, doi. 10.1093/brain/awv052

By:

Galizia, Elizabeth C.;
Myers, Candace T.;
Leu, Costin;
de Kovel, Carolien G. F.;
Afrikanova, Tatiana;
Cordero-Maldonado, Maria Lorena;
Martins, Teresa G.;
Jacmin, Maxime;
Drury, Suzanne;
Krishna Chinthapalli, V.;
Muhle, Hiltrud;
Pendziwiat, Manuela;
Sander, Thomas;
Ruppert, Ann-Kathrin;
Møller, Rikke S.;
Thiele, Holger;
Krause, Roland;
Schubert, Julian;
Lehesjoki, Anna-Elina;
Nürnberg, Peter

Publication type:

Article

Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.

Published in:

Annals of Neurology, 2021, v. 89, n. 2, p. 402, doi. 10.1002/ana.25941

By:

Mazzola, Laure;
Oliver, Karen L.;
Labalme, Audrey;
Baykan, Betül;
Muona, Mikko;
Joensuu, Tarja H.;
Courage, Carolina;
Chatron, Nicolas;
Borsani, Giuseppe;
Alix, Eudeline;
Ramond, Francis;
Touraine, Renaud;
Bahlo, Melanie;
Bebek, Nerses;
Berkovic, Samuel F.;
Lehesjoki, Anna‐Elina;
Lesca, Gaetan

Publication type:

Article

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.

Published in:

2016

By:

Helbig, Katherine L.;
Hedrich, Ulrike B.S.;
Shinde, Deepali N.;
Krey, Ilona;
Teichmann, Anne‐Christin;
Hentschel, Julia;
Schubert, Julian;
Chamberlin, Adam C.;
Huether, Robert;
Lu, Hsiao‐Mei;
Alcaraz, Wendy A.;
Tang, Sha;
Jungbluth, Chelsy;
Dugan, Sarah L.;
Vainionpää, Leena;
Karle, Kathrin N.;
Synofzik, Matthis;
Schöls, Ludger;
Schüle, Rebecca;
Lehesjoki, Anna‐Elina

Publication type:

journal article

Unverricht-Lundborg Disease in Turkey: Delineating The Phenotype Between Cystatin B Mutation Positive and Negative Cases.

Published in:

Journal of Neurological Sciences, 2010, v. 27, n. 1, p. 1

By:

Erdınç, Oğuz Osman;
Joensuu, Tarja;
İlğen-Uslu, Ferda;
Bebek, Nerses;
Özkara, Çiğdem;
Tutkavul, Kemal;
Gündüz, Ayşegül;
Lehesjoki, Anna-Elina;
Baykan, Betül

Publication type:

Article

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 5, p. 568, doi. 10.1002/mgg3.235

By:

Kovel, Carolien G.F.;
Brilstra, Eva H.;
Kempen, Marjan J.A.;
Slot, Ruben;
Nijman, Isaac J.;
Afawi, Zaid;
De Jonghe, Peter;
Djémié, Tania;
Guerrini, Renzo;
Hardies, Katia;
Helbig, Ingo;
Hendrickx, Rik;
Kanaan, Moine;
Kramer, Uri;
Lehesjoki, Anna‐Elina E.;
Lemke, Johannes R.;
Marini, Carla;
Mei, Davide;
Møller, Rikke S.;
Pendziwiat, Manuela

Publication type:

Article

The GENCODE exome: sequencing the complete human exome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 827, doi. 10.1038/ejhg.2011.28

By:

Coffey, Alison J.;
K.okocinski, Felix;
Calafato, Maria S.;
Scott, Carol E.;
Palta, Priit;
Drury, Eleanor;
Joyce, Christopher J;
LeProust, Emily M.;
Harrow, Jen;
Hunt, Sarah;
Lehesjoki, Anna-Elina;
Turner, Daniel J.;
Hubbard, Tim J.;
Palotie, Aarno

Publication type:

Article

Seizures induce widespread upregulation of cystatin B, the gene mutated in progressive myoclonus epilepsy, in rat forebrain neurons.

Published in:

European Journal of Neuroscience, 2000, v. 12, n. 5, p. 1687, doi. 10.1046/j.1460-9568.2000.00058.x

By:

D'amato, Elena;
Kokaia, Zaal;
Nanobashvili, Avtandil;
Reeben, Mati;
Lehesjoki, Anna‐Elina;
Saarma, Mart;
Lindvall, Olle

Publication type:

Article

Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults.

Published in:

Journal of Bone & Mineral Research, 2016, v. 31, n. 9, p. 1734, doi. 10.1002/jbmr.2841

By:

Mäkitie, Riikka E;
Haanpää, Maria;
Valta, Helena;
Pekkinen, Minna;
Laine, Christine M;
Lehesjoki, Anna-Elina;
Schalin-Jäntti, Camilla;
Mäkitie, Outi

Publication type:

Article

A Novel Splice Mutation in PLS3 Causes X-linked Early Onset Low-Turnover Osteoporosis.

Published in:

Journal of Bone & Mineral Research, 2015, v. 30, n. 3, p. 437, doi. 10.1002/jbmr.2355

By:

Pekkinen, Minna;
Lehesjoki, Anna-Elina;
Laine, Christine M;
Wessman, Maija;
Kaunisto, Mari A;
Mäkitie, Outi;
Toiviainen-Salo, Sanna;
Mäyränpää, Mervi K;
Laine, Tero;
Kröger, Heikki;
Välimäki, Ville-Valtteri;
Välimäki, Matti J

Publication type:

Article

Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study.

Published in:

Journal of Neurochemistry, 2005, v. 95, n. 3, p. 609, doi. 10.1111/j.1471-4159.2005.03376.x

By:

Hermansson, Martin;
Käkel, Reijo;
Berghäll, Maria;
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Clinical Genetics, 1990, v. 38, n. 3, p. 187, doi. 10.1111/j.1399-0004.1990.tb03570.x

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Frontiers in Molecular Neuroscience, 2023, p. 1, doi. 10.3389/fnmol.2023.1175851

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