Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms von WALLACE, R. H, HODGSON, B. L, YAMAMOTO, T, ANDERMANN, E, MULLEY, J. C, BERKOVIC, S. F, SCHEFFER, I. E, GRINTON, B. E, GARDINER, R. M, ROBINSON, R, RODRIGUEZ-CASERO, V, SADLEIR, L, MORGAN, J, HARKIN, L. A, DIBBENS, L. M

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Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome von Munroe, Patricia B., Olgunturk, Rana O., Fryns, Jean-Pierre, Maldergem, Lionel Van, Ziereisen, France, Yuksel, Bulend, Gardiner, R. Mark, Chung, Eddie

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Loci for Classical and a Variant Late Infantile Neuronal Ceroid Lipofuscinosis Map to Chromosomes 11p15 and 15q21–23 von Sharp, J. D., Wheeler, R. B., Lake, B. D., Savukoski, M., Järvelä, I. E., Peltonen, L., Gardiner, R. M., Williams, R. E.

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Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates von Jeganathan, D, Chodhari, R, Meeks, M, Færoe, O, Smyth, D, Nielsen, K, Amirav, I, Luder, A S, Bisgaard, H, Gardiner, R M, Chung, E M K, Mitchison, H M

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Genome search for susceptibility loci of common idiopathic generalised epilepsies von SANDER, T, SCHULZ, H, VILLE, D, CIEUTA, C, PICARD, F, PRUD'HOMME, J.-F, BATE, L, SUNDQUIST, A, GARDINER, R. M, JANSSEN, G. A. M. A. J, DE HAAN, G.-J, KASTELEIJN-NOLST-TRENITE, D. G. A, SAAR, K, BADER, A, LINDHOUT, D, RIESS, O, WIENKER, T. F, JANZ, D, REIS, A, GENNARO, E, RIGGIO, M. C, BIANCHI, A, ZARA, F, LUNA, D, BULTEAU, C, KAMINSKA, A

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Genetic Mapping of a Major Susceptibility Locus for Juvenile Myoclonic Epilepsy on Chromosome 15q von Elmslie, Frances V., Rees, Michele, Williamson, Magali P., Kerr, Michael, Kjeldsen, Marianne J., An Pang, Kiang, Sundqvist, Anders, Friis, Mögens L., Chadwick, David, Richens, Alan, Covanis, Athanasios, Santos, Manuela, Arzimanoglou, Alexis, Panayiotopoulos, Chrysostomos P., Curtis, David, Whitehouse, William P., Gardiner, R. Mark

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A novel splice-site mutation in the γ subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families von STRAUTNIEKS, S. S, THOMPSON, R. J, GARDINER, R. M, CHUNG, E

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Impact of our understanding of the genetic aetiology of epilepsy von GARDINER, R. M

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Spectrum of Mutations in the Batten Disease Gene, CLN3 von Munroe, Patricia B., Mitchison, Hannah M., O'Rawe, Angela M., Anderson, John W., Boustany, Rose-Mary, Lerner, Terry J., Taschner, Peter E.M., Vos, Nanneke de, Breuning, Martijn H., Gardiner, R. Mark, Mole, Sara E.

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Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24 von STRAUTNIEKS, S. S, KAGALWALLA, A. F, TANNER, M. S, KNISELY, A. S, BULL, L, FREIMER, N, KOCOSHIS, S. A, GARDINER, R. M, THOMPSON, R. J

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A locus for primary ciliary dyskinesia maps to chromosome 19q von Meeks, M, Walne, A, Spiden, S, Simpson, H, Mussaffi-Georgy, H, Hamam, H D, Fehaid, E L, Cheehab, M, Al-Dabbagh, M, Polak-Charcon, S, Blau, H, O'Rawe, A, Mitchison, H M, Gardiner, R M, Chung, E

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Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis von LAURONEN, L, MUNROE, P. B, KIRVESKARI, E, SANTAVUORI, P, JÄRVELÄ, I, AUTTI, T, MITCHISON, H. M, O'RAWE, A. M, GARDINER, R. M, MOLE, S. E, PURANEN, J, HÄKKINEN, A.-M

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Mutations in the Palmitoyl-Protein Thioesterase Gene (PPT; CLN1) Causing Juvenile Neuronal Ceroid Lipofuscinosis with Granular Osmiophilic Deposits von Mitchison, Hannah M., Hofmann, Sandra L., Becerra, Carlos H. R., Munroe, Patricia B., Lake, Brian D., Crow, Yanick J., Stephenson, John B. P., Williams, Ruth E., Hofman, Irene L., Taschner, Peter E. M., Martin, Jean-Jacques, Philippart, Michel, Andermann, Eva, Andermann, Frederick, Mole, Sara E., Gardiner, R. Mark, O'Rawe, Angela M.

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Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity von Blouin, J L, Meeks, M, Radhakrishna, U, Sainsbury, A, Gehring, C, Saïl, G D, Bartoloni, L, Dombi, V, O'Rawe, A, Walne, A, Chung, E, Afzelius, B A, Armengot, M, Jorissen, M, Schidlow, D V, van Maldergem, L, Walt, H, Gardiner, R M, Probst, D, Guerne, P A, Delozier-Blanchet, C D, Antonarakis, S E

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A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis von Strautnieks, Sandra S., Bull, Laura N., Knisely, Alexander S., Kocoshis, Samuel A., Dahl, Niklas, Arnell, Henrik, Sokal, Etienne, Dahan, Karine, Childs, Sarah, Ling, Victor, Tanner, M. Stuart, Kagalwalla, Amir F., Németh, Antal, Pawlowska, Joanna, Baker, Alastair, Mieli-Vergani, Giorgina, Freimer, Nelson B., Gardiner, R. Mark, Thompson, Richard J.

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Ducky Mouse Phenotype of Epilepsy and Ataxia Is Associated with Mutations in the Cacna2d2 Gene and Decreased Calcium Channel Current in Cerebellar Purkinje Cells von Barclay, Jane, Balaguero, Nuria, Mione, Marina, Ackerman, Susan L, Letts, Verity A, Brodbeck, Jens, Canti, Carles, Meir, Alon, Page, Karen M, Kusumi, Kenro, Perez-Reyes, Edward, Lander, Eric S, Frankel, Wayne N, Gardiner, R. Mark, Dolphin, Annette C, Rees, Michele

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Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy : no evidence for an epilepsy lo... von WHITEHOUSE, W. P, REES, M, CURTIS, D, SUNDQVIST, A, PARKER, K, CHUNG, E, BARALLE, D, GARDINER, R. M

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The Human Genome Project: the next decade von Gardiner, R M

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Linkage analysis of juvenile myoclonic epilepsy and microsatellite loci spanning 61 cM of human chromosome 6p in 19 nuclear pedigrees provides no evidence for a susceptibility locu... von ELMSLIE, F. V, WILLIAMSON, M. P, WHITEHOUSE, W. P, GARDINER, R. M, REES, M, KERR, M, KJELDSEN, M. J, PANG, K. A, SUNDQVIST, A, FRIIS, M. L, RICHENS, A, CHADWICK, D

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Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis von Elmslie, F V, Hutchings, S M, Spencer, V, Curtis, A, Covanis, T, Gardiner, R M, Rees, M

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