Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis
Gall, Kimberly, Izzo, Emanuela, Seppälä, Eija H, Alakurtti, Kirsi, Koskinen, Lotta, Saarinen, Inka, Singh, Akashdeep, Myllykangas, Samuel, Koskenvuo, Juha, Alastalo, Tero-Pekka
Published in PloS one (01.09.2021)
Published in PloS one (01.09.2021)
Get full text
Journal Article
RAB23 regulates musculoskeletal development and patterning
Hasan, Md Rakibul, Koskenranta, Anna, Alakurtti, Kirsi, Takatalo, Maarit, Rice, David P
Published in Frontiers in cell and developmental biology (23.02.2023)
Published in Frontiers in cell and developmental biology (23.02.2023)
Get full text
Journal Article
P622: Genetic results in a cohort of 489 patients with inherited myopathies
Gall, Kim, Hathaway, Julie, Koskinen, Lotta, Alakurtti, Kirsi, Hagström, Äsa, Segura, Monica, Kuisma, Heli, Seppala, Eija, Djupsjöbacka, Janica, Muona, Mikko, Pietila, Tuuli, Salmenperä, Pertteli, Saarinen, Inka, Veeraraghavan, Ray, Myllykangas, Samuel, Koskenvuo, Juha
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
Get full text
Journal Article
P554: A case series of 17 patients with VEXAS syndrome due to UBA1 Met41 variants
Scocchia, Alicia, Sluyters, Allison, Andreevskaya, Margarita, Alakurtti, Kirsi, Kokkonen, Paivi, Gall, Kimberly, Hathaway, Julie, Howell, Victoria, Koskinen, Lotta, Djupsjöbacka, Janica, Gentile, Massimiliano, Salmenperä, Pertteli, Paananen, Jussi, Myllykangas, Samuel, Koskenvuo, Juha
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
Get full text
Journal Article
Prevention of Premature Fusion of Calvarial Suture in GLI-Kruppel Family Member 3 (Gli3)-deficient Mice by Removing One Allele of Runt-related Transcription Factor 2 (Runx2)
Tanimoto, Yukiho, Veistinen, Lotta, Alakurtti, Kirsi, Takatalo, Maarit, Rice, David P.C.
Published in The Journal of biological chemistry (15.06.2012)
Published in The Journal of biological chemistry (15.06.2012)
Get full text
Journal Article
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2
Gall, Kimberly, Izzo, Emanuela, Seppälä, Eija H, Alakurtti, Kirsi, Koskinen, Lotta, Saarinen, Inka, Singh, Akashdeep, Myllykangas, Samuel, Koskenvuo, Juha, Alastalo, Tero-Pekka
Published in PloS one (01.09.2021)
Published in PloS one (01.09.2021)
Get full text
Journal Article
Utility of gene panel testing in children with seizure onset after 2 years of age: Results from a European and Middle Eastern epilepsy genetic testing program
Izzo, Emanuela, Gall, Kimberly, Alakurtti, Kirsi, Seppala, Eija H., Koskinen, Lotta, Koskenvuo, Juha, Alastalo, Tero-Pekka
Published in Molecular genetics and metabolism (01.02.2020)
Published in Molecular genetics and metabolism (01.02.2020)
Get full text
Journal Article
OP086 - Diagnostic yield and clinical utility of genetic testing in children with seizure onset after 2 years of age: an update
Liaquat, Khalida, Gall, Kim, Izzo, Emmanuela, Singh, Akashdeep, Alakurtti, Kirsi, Seppala, Eija, Koskinen, Lotta, Koskenvuo, Juha, Alastalo, Tero-Pekka
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
Get full text
Journal Article
Diagnostic yield and clinical utility of genetic testing in children with seizure onset after 2 years of age: an update
Liaquat, Khalida, Gall, Kim, Izzo, Emmanuela, Singh, Akashdeep, Alakurtti, Kirsi, Seppala, Eija, Koskinen, Lotta, Koskenvuo, Juha, Alastalo, Tero-Pekka
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
Get full text
Journal Article
Diagnostic yield and clinical utility of genetic testing in children with seizure onset after two years of age: Update over 2 1/2-year program in Europe and the Middle East
Singh, Akashdeep, Gall, Kimberly, Izzo, Emanuela, Alakurtti, Kirsi, Seppala, Eija H., Koskinen, Lotta, Koskenvuo, Juha, Alastalo, Tero-Pekka
Published in Molecular genetics and metabolism (01.02.2021)
Published in Molecular genetics and metabolism (01.02.2021)
Get full text
Journal Article
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1
ANTTILA, Verneri, STEFANSSON, Hreinn, ARTTO, Ville, INOUYE, Michael, ALAKURTTI, Kirsi, KAUNISTO, Mari A, HÄMÄLÄINEN, Eija, DE VRIES, Boukje, STAM, Anine H, WELLER, Claudia M, HEINZE, Axel, HEINZE-KUHN, Katja, KALLELA, Mikko, GOEBEL, Ingrid, BORCK, Guntram, GÖBEL, Hartmut, STEINBERG, Stacy, WOLF, Christiane, BJÖRNSSON, Asgeir, GUDMUNDSSON, Gretar, KIRCHMANN, Malene, HAUGE, Anne, WERGE, Thomas, TODT, Unda, SCHOENEN, Jean, ERIKSSON, Johan G, HAGEN, Knut, STOVNER, Lars, WICHMANN, H-Erich, MEITINGER, Thomas, ALEXANDER, Michael, MOEBUS, Susanne, SCHREIBER, Stefan, AULCHENKO, Yurii S, TERWINDT, Gisela M, BRETELER, Monique M. B, UITTERLINDEN, Andre G, HOFMAN, Albert, VAN DUIJN, Cornelia M, TIKKA-KLEEMOLA, Päivi, VEPSÄLÄINEN, Salli, LUCAE, Susanne, TOZZI, Federica, MUGLIA, Pierandrea, BARRETT, Jeffrey, STELLA CALAFATO, M, KAPRIO, Jaakko, FÄRKKILÄ, Markus, PELTONEN, Leena, STEFANSSON, Kari, ZWART, John-Anker, FERRARI, Michel D, OLESEN, Jes, DALY, Mark, WESSMAN, Maija, VAN DEN MAAGDENBERG, Arn M.j M, NYHOLT, Dale R, DIMAS, Antigone S, FREILINGER, Tobias, MÜLLER-MYHSOK, Bertram
Published in Nature genetics (01.10.2010)
Published in Nature genetics (01.10.2010)
Get full text
Journal Article
Web Resource
Noggin null allele mice exhibit a microform of holoprosencephaly
Lana-Elola, Eva, Tylzanowski, Przemko, Takatalo, Maarit, Alakurtti, Kirsi, Veistinen, Lotta, Mitsiadis, Thimios A., Graf, Daniel, Rice, Ritva, Luyten, Frank P., Rice, David P.
Published in Human molecular genetics (15.10.2011)
Published in Human molecular genetics (15.10.2011)
Get full text
Journal Article
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies
Accogli, Andrea, Zaki, Maha S, Al-Owain, Mohammed, Otaif, Mansour Y, Jackson, Adam, Argilli, Emanuela, Chandler, Kate E, De Goede, Christian G E L, Cora, Tülün, Alvi, Javeria Raza, Eslahi, Atieh, Asl Mohajeri, Mahsa Sadat, Ashtiani, Setareh, Au, P Y Billie, Scocchia, Alicia, Alakurtti, Kirsi, Pagnamenta, Alistair T, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Mojarrad, Majid, Arab, Fatemeh, Duymuş, Fahrettin, Scantlebury, Morris H, Yeşil, Gözde, Rosenfeld, Jill Anne, Türkyılmaz, Ayberk, Sağer, Safiye Güneş, Sultan, Tipu, Ashrafzadeh, Farah, Zahra, Tatheer, Rahman, Fatima, Maqbool, Shazia, Abdel-Hamid, Mohamed S, Issa, Mahmoud Y, Efthymiou, Stephanie, Bauer, Peter, Zifarelli, Giovanni, Salpietro, Vincenzo, Al-Hassnan, Zuhair, Banka, Siddharth, Sherr, Elliot H, Gleeson, Joseph G, Striano, Pasquale, Houlden, Henry, Severino, Mariasavina, Maroofian, Reza
Published in Brain communications (2023)
Published in Brain communications (2023)
Get full text
Journal Article
A high-density association screen of 155 ion transport genes for involvement with common migraine
Nyholt, Dale R., LaForge, K. Steven, Kallela, Mikko, Alakurtti, Kirsi, Anttila, Verneri, Färkkilä, Markus, Hämaläinen, Eija, Kaprio, Jaakko, Kaunisto, Mari A., Heath, Andrew C., Montgomery, Grant W., Göbel, Hartmut, Todt, Unda, Ferrari, Michel D., Launer, Lenore J., Frants, Rune R., Terwindt, Gisela M., de Vries, Boukje, Verschuren, W.M. Monique, Brand, Jan, Freilinger, Tobias, Pfaffenrath, Volker, Straube, Andreas, Ballinger, Dennis G., Zhan, Yiping, Daly, Mark J., Cox, David R., Dichgans, Martin, van den Maagdenberg, Arn M.J.M., Kubisch, Christian, Martin, Nicholas G., Wessman, Maija, Peltonen, Leena, Palotie, Aarno
Published in Human molecular genetics (01.11.2008)
Published in Human molecular genetics (01.11.2008)
Get full text
Journal Article
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)
Get full text
Journal Article
Functional interaction of AIRE with PIAS1 in transcriptional regulation
Ilmarinen, Tanja, Kangas, Hannele, Kytömaa, Taina, Eskelin, Petra, Saharinen, Juha, Seeler, Jacob-S., Tanhuanpää, Kimmo, Chan, Fiona Yih-Ling, Slattery, Robyn Maree, Alakurtti, Kirsi, Palvimo, Jorma J., Ulmanen, Ismo
Published in Molecular immunology (01.04.2008)
Published in Molecular immunology (01.04.2008)
Get full text
Journal Article
Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations
Alakurtti, Kirsi, Weber, Ekkehard, Rinne, Riitta, Theil, Gerit, de Haan, Gerrit-Jan, Lindhout, Dick, Salmikangas, Paula, Saukko, Pekka, Lahtinen, Ulla, Lehesjoki, Anna-Elina
Published in European journal of human genetics : EJHG (01.02.2005)
Published in European journal of human genetics : EJHG (01.02.2005)
Get full text
Journal Article
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)
Get full text
Journal Article
Erratum: Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations
Alakurtti, Kirsi, Weber, Ekkehard, Rinne, Riitta, Theil, Gerit, de Haan, Gerrit-Jan, Lindhout, Dick, Salmikangas, Paula, Saukko, Pekka, Lahtinen, Ulla, Lehesjoki, Anna-Elina
Published in European journal of human genetics : EJHG (20.01.2005)
Published in European journal of human genetics : EJHG (20.01.2005)
Get full text
Journal Article