SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain
Liao, Y, Anttonen, A-K, Liukkonen, E, Gaily, E, Maljevic, S, Schubert, S, Bellan-Koch, A, Petrou, S, Ahonen, V E, Lerche, H, Lehesjoki, A-E
Published in Neurology (19.10.2010)
Published in Neurology (19.10.2010)
Get more information
Journal Article
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia
Schwarz, N., Hahn, A., Bast, T., Müller, S., Löffler, H., Maljevic, S., Gaily, E., Prehl, I., Biskup, S., Joensuu, T., Lehesjoki, A.-E., Neubauer, B. A., Lerche, H., Hedrich, U. B. S.
Published in Journal of neurology (01.02.2016)
Published in Journal of neurology (01.02.2016)
Get full text
Journal Article
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy
Striano, P, Weber, Y G, Toliat, M R, Schubert, J, Leu, C, Chaimana, R, Baulac, S, Guerrero, R, LeGuern, E, Lehesjoki, A-E, Polvi, A, Robbiano, A, Serratosa, J M, Guerrini, R, Nürnberg, P, Sander, T, Zara, F, Lerche, H, Marini, C
Published in Neurology (21.02.2012)
Published in Neurology (21.02.2012)
Get more information
Journal Article
Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis
Sharifi, A., Kousi, M., Sagné, C., Bellenchi, G.C., Morel, L., Darmon, M., Hůlková, H., Ruivo, R., Debacker, C., El Mestikawy, S., Elleder, M., Lehesjoki, A.-E., Jalanko, A., Gasnier, B., Kyttälä, A.
Published in Human molecular genetics (15.11.2010)
Published in Human molecular genetics (15.11.2010)
Get full text
Journal Article
Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults
Mäkitie, Riikka E, Haanpää, Maria, Valta, Helena, Pekkinen, Minna, Laine, Christine M, Lehesjoki, Anna‐Elina, Schalin‐Jäntti, Camilla, Mäkitie, Outi
Published in Journal of bone and mineral research (01.09.2016)
Published in Journal of bone and mineral research (01.09.2016)
Get full text
Journal Article
Shared loci for migraine and epilepsy on chromosomes 14q12-q23 and 12q24.2-q24.3
Polvi, A, Siren, A, Kallela, M, Rantala, H, Artto, V, Sobel, E M, Palotie, A, Lehesjoki, A-E, Wessman, M
Published in Neurology (17.01.2012)
Published in Neurology (17.01.2012)
Get more information
Journal Article
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease
Cormand, B, Pihko, H, Bayés, M, Valanne, L, Santavuori, P, Talim, B, Gershoni-Baruch, R, Ahmad, A, van Bokhoven, H, Brunner, H G, Voit, T, Topaloglu, H, Dobyns, W B, Lehesjoki, A E
Published in Neurology (24.04.2001)
Published in Neurology (24.04.2001)
Get more information
Journal Article
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome
Balikova, I, Lehesjoki, A.E, de Ravel, T.J.L, Thienpont, B, Chandler, K.E, Clayton-Smith, J, Träskelin, A.L, Fryns, J.P, Vermeesch, J.R
Published in Human mutation (01.09.2009)
Published in Human mutation (01.09.2009)
Get full text
Journal Article
Motor cortex and thalamic atrophy in Unverricht-Lundborg disease: voxel-based morphometric study
Koskenkorva, P, Khyuppenen, J, Niskanen, E, Könönen, M, Bendel, P, Mervaala, E, Lehesjoki, A E, Kälviäinen, R, Vanninen, R
Published in Neurology (25.08.2009)
Published in Neurology (25.08.2009)
Get more information
Journal Article
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure
Dibbens, L.M., Michelucci, R., Gambardella, A., Andermann, F., Rubboli, G., Bayly, M.A., Joensuu, T., Vears, D.F., Franceschetti, S., Canafoglia, L., Wallace, R., Bassuk, A.G., Power, D.A., Tassinari, C.A., Andermann, E., Lehesjoki, A.E., Berkovic, S.F.
Published in Annals of neurology (01.10.2009)
Published in Annals of neurology (01.10.2009)
Get full text
Journal Article
Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome
Chandler, K E, Kidd, A, Al-Gazali, L, Kolehmainen, J, Lehesjoki, A-E, Black, G C M, Clayton-Smith, J
Published in Journal of medical genetics (01.04.2003)
Published in Journal of medical genetics (01.04.2003)
Get full text
Journal Article
Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy
Savander, M, Ropponen, A, Avela, K, Weerasekera, N, Cormand, B, Hirvioja, M-L, Riikonen, S, Ylikorkala, O, Lehesjoki, A-E, Williamson, C, Aittomäki, K
Published in Gut (01.07.2003)
Published in Gut (01.07.2003)
Get full text
Journal Article
Cerebroretinal microangiopathy with calcifications and cysts, Revesz syndrome and aplastic anemia
Linnankivi, T, Polvi, A, Mäkitie, O, Lehesjoki, A-E, Kivelä, T
Published in Bone marrow transplantation (Basingstoke) (01.01.2013)
Published in Bone marrow transplantation (Basingstoke) (01.01.2013)
Get full text
Journal Article
Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism
Avela, Kristiina, Lipsanen-Nyman, Marita, Idänheimo, Niina, Seemanová, Eva, Rosengren, Sally, Mäkelä, Tomi P, Perheentupa, Jaakko, Chapelle, Albert de la, Lehesjoki, Anna-Elina
Published in Nature genetics (01.07.2000)
Published in Nature genetics (01.07.2000)
Get full text
Journal Article
Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)
Pennacchio, Len A., Lehesjoki, Anna-Elina, Stone, Nancy E., Willour, Virginia L., Virtaneva, Kimmo, Miao, Jinmin, D'Amato, Elena, Ramirez, Lucia, Faham, Malek, Koskiniemi, Marjaleena, Warrington, Janet A., Norio, Reijo, de la Chapelle, Albert, Cox, David R., Myers, Richard M.
Published in Science (American Association for the Advancement of Science) (22.03.1996)
Published in Science (American Association for the Advancement of Science) (22.03.1996)
Get full text
Journal Article
The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum
LONKA, L, KYTTÄLÄ, A, RANTA, S, JALANKO, A, LEHESJOKI, A.-E
Published in Human molecular genetics (01.07.2000)
Published in Human molecular genetics (01.07.2000)
Get full text
Journal Article
Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3
Joensuu, Tarja, Hämäläinen, Riikka, Yuan, Bo, Johnson, Cheryl, Tegelberg, Saara, Gasparini, Paolo, Zelante, Leopoldo, Pirvola, Ulla, Pakarinen, Leenamaija, Lehesjoki, Anna-Elina, de la Chapelle, Albert, Sankila, Eeva-Marja
Published in American journal of human genetics (01.10.2001)
Published in American journal of human genetics (01.10.2001)
Get full text
Journal Article
Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model Cln8mnd: implications to delayed myelination and oligodendrocyte maturation
Kuronen, M., Hermansson, M., Manninen, O., Zech, I., Talvitie, M., Laitinen, T., Gröhn, O., Somerharju, P., Eckhardt, M., Cooper, J. D., Lehesjoki, A.-E., Lahtinen, U., Kopra, O.
Published in Neuropathology and applied neurobiology (01.08.2012)
Published in Neuropathology and applied neurobiology (01.08.2012)
Get full text
Journal Article
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8
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
Published in Nature genetics (01.10.1999)
Published in Nature genetics (01.10.1999)
Get full text
Journal Article
Efficacy of levetiracetam in a patient with Unverricht-Lundborg progressive myoclonic epilepsy
Kinrions, P, Ibrahim, N, Murphy, K, Lehesjoki, A-E, Järvela, I, Delanty, N
Published in Neurology (22.04.2003)
Published in Neurology (22.04.2003)
Get more information
Journal Article