SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain von LIAO, Y, ANTTONEN, A.-K, LEHESJOKI, A.-E, LIUKKONEN, E, GAILY, E, MALJEVIC, S, SCHUBERT, S, BELLAN-KOCH, A, PETROU, S, AHONEN, V. E, LERCHE, H

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Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia von 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.

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GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy von STRIANO, P, WEBER, Y. G, POLVI, A, ROBBIANO, A, SERRATOSA, J. M, GUERRINI, R, NÜRNBERG, P, SANDER, T, ZARA, F, LERCHE, H, MARINI, C, TOLIAT, M. R, SCHUBERT, J, LEU, C, CHAIMANA, R, BAULAC, S, GUERRERO, R, LEGUERN, E, LEHESJOKI, A.-E

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

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

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SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure von 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.

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Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome von 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

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Shared loci for migraine and epilepsy on chromosomes 14q12-q23 and 12q24.2-q24.3 von Polvi, A, Siren, A, Kallela, M, Rantala, H, Artto, V, Sobel, E M, Palotie, A, Lehesjoki, A-E, Wessman, M

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Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease von CORMAND, B, PIHKO, H, VOIT, T, TOPALOGLU, H, DOBYNS, W. B, LEHESJOKI, A.-E, BAYES, M, VALANNE, L, SANTAVUORI, P, TALIM, B, GERSHONI-BARUCH, R, AHMAD, A, VAN BOKHOVEN, H, BRUNNER, H. G

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Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy von Savander, M, Ropponen, A, Avela, K, Weerasekera, N, Cormand, B, Hirvioja, M-L, Riikonen, S, Ylikorkala, O, Lehesjoki, A-E, Williamson, C, Aittomäki, K

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Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome von Chandler, K E, Kidd, A, Al-Gazali, L, Kolehmainen, J, Lehesjoki, A-E, Black, G C M, Clayton-Smith, J

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Motor cortex and thalamic atrophy in Unverricht-Lundborg disease: Voxel-based morphometric study von KOSKENKORVA, P, KHYUPPENEN, J, NISKANEN, E, KÖNÖNEN, M, BENDEL, P, MERVAALA, E, LEHESJOKI, A. E, KÄLVIÄINEN, R, VANNINEN, R

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Cerebroretinal microangiopathy with calcifications and cysts, Revesz syndrome and aplastic anemia von Linnankivi, T, Polvi, A, Mäkitie, O, Lehesjoki, A-E, Kivelä, T

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Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1) von 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.

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Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism von Avela, Kristiina, Lipsanen-Nyman, Marita, Idänheimo, Niina, Seemanová, Eva, Rosengren, Sally, Mäkelä, Tomi P, Perheentupa, Jaakko, Chapelle, Albert de la, Lehesjoki, Anna-Elina

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Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3 von 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

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The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum von LONKA, L, KYTTÄLÄ, A, RANTA, S, JALANKO, A, LEHESJOKI, A.-E

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WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta von Laine, Christine M, Joeng, Kyu Sang, Campeau, Philippe M, Kiviranta, Riku, Tarkkonen, Kati, Grover, Monica, Lu, James T, Pekkinen, Minna, Wessman, Maija, Heino, Terhi J, Nieminen-Pihala, Vappu, Aronen, Mira, Laine, Tero, Kröger, Heikki, Cole, William G, Lehesjoki, Anna-Elina, Nevarez, Lisette, Krakow, Deborah, Curry, Cynthia J.R, Cohn, Daniel H, Gibbs, Richard A, Lee, Brendan H, Mäkitie, Outi

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

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Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1 von Chapelle, Albert de la, Dieguez-Lucena, José L, Myers, Richard M, Pennacchio, Len A, Koskiniemi, Marjaleena, Tassinari, Carlo A, D'Amato, Elena, Michelucci, Roberto, Omer, Salah, Avanzini, Giuliano, Franceschetti, Silvana, Krahe, Ralf, Lehesjoki, Anna-Elina, Norio, Reijo, Miao, Jinmin, Virtaneva, Kimmo

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