Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency von GRAPP, M, JUST, I. A, LINNANKIVI, T, WOLF, P, LÜCKE, T, HÄUSLER, M, GÄRTNER, J, STEINFELD, R

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POLG1 manifestations in childhood von ISOHANNI, P, HAKONEN, A. H, UUSIMAA, J, LÖNNQVIST, T, SUOMALAINEN, A, PIHKO, H, EURO, L, PAETAU, I, LINNANKIVI, T, LIUKKONEN, E, WALLDEN, T, LUOSTARINEN, L, VALANNE, L, PAETAU, A

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DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis von Isohanni, P, Linnankivi, T, Buzkova, J, Lönnqvist, T, Pihko, H, Valanne, L, Tienari, P J, Elovaara, I, Pirttilä, T, Reunanen, M, Koivisto, K, Marjavaara, S, Suomalainen, A

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PP03.4 – 2660: Recurrent metabolic crises and mitochondrial encephalocardiomyopathy due to mutations in LRPPRC von Isohanni, P, Linnankivi, T, Honarmand, S, Lapatto, R, Lönnqvist, T, Shoubridge, E, Wartiovaara, A. Suomalainen

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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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Hypomyelination with atrophy of the basal ganglia and cerebellum : Follow-up and pathology von VAN DER KNAAP, M. S, LINNANKIVI, T, BROCKMANN, K, SCHIFFMANN, R, BLASER, S, PAETAU, A, FEIGENBAUM, A, WAKUSAWA, K, HAGINOYA, K, KÖHLER, W, HENNEKE, M, DINOPOULOS, A, GRATTAN-SMITH, P

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Cerebroretinal microangiopathy with calcifications and cysts von LINNANKIVI, T, VALANNE, L, VANNINEN, R, HERVA, R, PIHKO, H, PAETAU, A, ALAFUZOFF, I, HAKUMÄKI, J. M, KIVELÄ, T, LÖNNQVIST, T, MÄKITIE, O, PÄÄKKÖNEN, L, VAINIONPÄÄ, L

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Five new cases of a recently described leukoencephalopathy with high brain lactate von LINNANKIVI, T, LUNDBOM, N, PIHKO, H, AUTTI, T, HÄKKINEN, A.-M, KOILLINEN, H, KUUSI, T, LONNQVIST, T, SAINIO, K, VALANNE, L, ÄÄRIMAA, T

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18q− Syndrome: Brain MRI shows poor differentiation of gray and white matter on T2-weighted images von Linnankivi, Tarja T., Autti, Taina H., Pihko, S. Helena, Somer, Mirja S., Tienari, Pentti J., Wirtavuori, Kari O., Valanne, Leena K.

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

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Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3-q23); report of familial cryptic chromosome t(18q; 10p) translocations von Dostal, A., Linnankivi, T., Somer, M., Kähkönen, M., Litzman, J., Tienari, P.

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A case of Salla disease with involvement of the cerebellar white matter von LINNANKIVI, T, LÖNNQVIST, T, AUTTI, T

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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy von Helbig, Ingo, Lopez-Hernandez, Tania, Shor, Oded, Galer, Peter, Ganesan, Shiva, Pendziwiat, Manuela, Rademacher, Annika, Ellis, Colin A., Hümpfer, Nadja, Schwarz, Niklas, Seiffert, Simone, Peeden, Joseph, Shen, Joseph, Štěrbová, Katalin, Hammer, Trine Bjørg, Møller, Rikke S., Shinde, Deepali N., Tang, Sha, Smith, Lacey, Poduri, Annapurna, Krause, Roland, Benninger, Felix, Helbig, Katherine L., Haucke, Volker, Weber, Yvonne G., Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Guerrini, Renzo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby P.C., Komarek, Vladimir, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Muhle, Hiltrud, Pal, Deb K., Palotie, Aarno, Rosenow, Felix, Schubert-Bast, Susanne, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weckhuysen, Sarah, Zara, Federico, Avillach, Paul, Bartels, Anna, Biswas, Sawona, Bourgeois, Florence, Devkota, Batsal, Glauser, Tracy, Hallinan, Barbara, Heath, Allison, Hirschhorn, Joel, Kilbourn, Judson, Kong, Sek Won, Krantz, Ian, Lee, In-Hee, Mandl, Kenneth D., Marsh, Eric, Sund, Kristen, Taylor, Deanne, White, Peter

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Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation von Linnankivi, Tarja, Mäkitie, Outi, Valanne, Leena, Toiviainen-Salo, Sanna

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Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype―phenotype correlation von HAMILTON, Eline M, POLDER, Emiel, SIMONS, Cas, TAFT, Ryan J, ABBINK, Truus E. M, WOLF, Nicole I, VAN DER KNAAP, Marjo S, VANDERVER, Adeline, NAIDU, Sakkubai, SCHIFFMANN, Raphael, FISHER, Kate, RAGUZ, Ana Boban, BLUMKIN, Luba, VAN BERKEL, Carola G. M, WAISFISZ, Quinten

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Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders von Lal, Dennis, May, Patrick, Perez-Palma, Eduardo, Samocha, Kaitlin E, Kosmicki, Jack A, Robinson, Elise B, Møller, Rikke S, Krause, Roland, Nürnberg, Peter, Weckhuysen, Sarah, De Jonghe, Peter, Guerrini, Renzo, Niestroj, Lisa M, Du, Juliana, Marini, Carla, Ware, James S, Kurki, Mitja, Gormley, Padhraig, Tang, Sha, Wu, Sitao, Biskup, Saskia, Poduri, Annapurna, Neubauer, Bernd A, Koeleman, Bobby P C, Helbig, Katherine L, Weber, Yvonne G, Helbig, Ingo, Majithia, Amit R, Palotie, Aarno, Daly, Mark J

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A recessive ataxia diagnosis algorithm for the next generation sequencing era von Renaud, Mathilde, Tranchant, Christine, Martin, Juan Vicente Torres, Mochel, Fanny, Synofzik, Matthis, van de Warrenburg, Bart, Pandolfo, Massimo, Koenig, Michel, Kolb, Stefan A., Anheim, Mathieu, Alonso, Isabel, Azzedine, Hamid, Barbot, Clara, Bereau, Matthieu, Berkovic, Sam, Bernard, Geneviéve, Bindoff, Laurence A., Bompaire, Flavie, Bonneau, Dominique, Bonneau, Patrizia, Boycott, Kym M., Bras, Jose, Brais, Bernard, Brigatti, Karlla W., Cameron, Jillian, Chamova, Teodora, Choquet, Karine, Delague, Valérie, Denizeau, Philippe, Dotti, Maria Teresa, El‐Euch, Ghada, Elmalik, Salah A., Federico, Antonio, Fiskerstrand, Torunn, Gagnon, Cynthia, Guerreiro, Rita, Guissart, Claire, Hassin‐Baer, Sharon, Heimdal, Ketil Riddervold, Héron, Bénédicte, Isohanni, Pirjo, Kalaydijeva, Luba, Kawarai, Toshitaka, Koht, Jeanette Aimee, Lai, Szu‐Chia, Piana, Roberta La, Lecocq, Claire, Linnankivi, Tarja, Lönnqvist, Tuula, Lu, Chin‐Song, Maas, Roderick, Mahlaoui, Nizar, Mallaret, Martial, Marelli, Cecilia, Mariotti, Caterina, Mathieu, Jean, Méneret, Aurélie, Mignarri, Andrea, Monin, Marie Lorraine, Montaut, Solveig, Nanetti, Lorenzo, Nadjar, Yann, Poujois, Aurélia, Salih, Mustafa A., Sousa, Sergio, Stanier, Philip, Stoppa‐Lyonnet, Dominique, Strauss, Kevin, Tallaksen, Chantal, Tarnopolsky, Mark, Tinant, Nadége, Tournev, Ivailo, Topaloglu, Haluk, Varhaug, Kristin Nielsen, Woimant, France, Wolf, Nicole I., Yahalom, Gilad, Yoon, Grace, Young, Millie

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18q deletions: Clinical, molecular, and brain MRI findings of 14 individuals von Linnankivi, Tarja, Tienari, Pentti, Somer, Mirja, Kähkönen, Marketta, Lönnqvist, Tuula, Valanne, Leena, Pihko, Helena

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Coats' reaction and angiomas of the retina from mutations affecting telomere maintenance von KIVELÄ, T, LINDAHL, P, POLVI, A, MAJANDER, A, MÄKITIE, O, LEHESJOKI, AE, LINNANKIVI, T

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Cerebroretinal microangiopathy with calcifications and cysts: Characterization of the skeletal phenotype von Toiviainen-Salo, Sanna, Linnankivi, Tarja, Saarinen, Anne, Mäyränpää, Mervi K., Karikoski, Riitta, Mäkitie, Outi

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