Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis von MATTHEWS, E, LABRUM, R, HANNA, M. G, SWEENEY, M. G, SUD, R, HAWORTH, A, CHINNERY, P. F, MEOLA, G, SCHORGE, S, KULLMANN, D. M, DAVIS, M. B

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The natural history of spinocerebellar ataxia type 1, 2, 3, and 6 A 2-year follow-up study von JACOBI, H, BAUER, P, SCHÖLS, L, RAKOWICZ, M, ROLA, R, ZDZIENICKA, E, SCHMITZ-HUBSCH, T, FANCELLU, R, MARIOTTI, C, TOMASELLO, C, BALIKO, L, MELEGH, B, GIUNTI, P, FILLA, A, RINALDI, C, VAN DE WARRENBURG, B. P, VERSTAPPEN, C. C. P, SZYMANSKI, S, BERCIANO, J, INFANTE, J, TIMMANN, D, BOESCH, S, HERING, S, LABRUM, R, DEPONDT, C, PANDOLFO, M, KANG, J.-S, RATZKA, S, SCHULZ, J, TEZENAS DU MONTCEL, S, KLOCKGETHER, T, SWEENEY, M. G, CHARLES, P, DÜRR, A, MARELLI, C, GLOBAS, C, LINNEMANN, C

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Responsiveness of different rating instruments in spinocerebellar ataxia patients von SCHMITZ-HÜBSCH, T, FIMMERS, R, FILLA, A, SALVATORE, E, INFANTE, J, GIUNTI, P, LABRUM, R, KREMER, B, VAN DE WARRENBURG, B. P. C, BALIKO, L, MELEGH, B, DEPONDT, C, RAKOWICZ, M, SCHULZ, J, DU MONTCEL, S. Tezenas, KLOCKGETHER, T, ROLA, R, ZDZIENICKA, E, FANCELLU, R, MARIOTTI, C, LINNEMANN, C, SCHÖLS, L, TIMMANN, D

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Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions von Fialho, D., Schorge, S., Pucovska, U., Davies, N. P., Labrum, R., Haworth, A., Stanley, E., Sud, R., Wakeling, W., Davis, M. B., Kullmann, D. M., Hanna, M. G.

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Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing von Labrum, R W, Rajakulendran, S, Graves, T D, Eunson, L H, Bevan, R, Sweeney, M G, Hammans, S R, Tubridy, N, Britton, T, Carr, L J, Ostergaard, J R, Kennedy, C R, Al-Memar, A, Kullmann, D M, Schorge, S, Temple, K, Davis, M B, Hanna, M G

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The molecular basis of Spinal Muscular Atrophy (SMA) in South African black patients von Labrum, R, Rodda, J, Krause, A

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Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology von Catarino, Claudia B., Liu, Joan Y.W., Liagkouras, Ioannis, Gibbons, Vaneesha S., Labrum, Robyn W., Ellis, Rachael, Woodward, Cathy, Davis, Mary B., Smith, Shelagh J., Cross, J. Helen, Appleton, Richard E., Yendle, Simone C., McMahon, Jacinta M., Bellows, Susannah T., Jacques, Thomas S., Zuberi, Sameer M., Koepp, Matthias J., Martinian, Lillian, Scheffer, Ingrid E., Thom, Maria, Sisodiya, Sanjay M.

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A PATIENT WITH EPISODIC ATAXIA AND PARAMYOTONIA CONGENITA DUE TO MUTATIONS IN KCNA1 AND SCN4A von RAJAKULENDRAN, S, TAN, S. V, MATTHEWS, E, TOMLINSON, S. E, LABRUM, R, SUD, R, KULLMANN, D. M, SCHORGE, S, HANNA, M. G

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PAW31 Clinical and genetic spectrum of the episodic ataxias: the UK perspective von Rajakulendran, S, Labrum, R W, Graves, T D, Tomlinson, S, Eunson, L H, Davis, M B, Schorge, S, Kullmann, D M, Hanna, M G

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P91 Using MRI as a diagnostic tool in the skeletal muscle channelopathies von Matthews, E, Sud, R, Labrum, R, Strycharczuk, L, Sinclair, C.D.J, Yousry, T.A, Hanna, M.G

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The molecular basis of cystic fibrosis in South Africa von Goldman, A, Labrum, R, Claustres, M, Desgeorges, M, Guittard, C, Wallace, A, Ramsay, M

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073 Hereditary spastic paraplegia caused by spastin (SPAST, SPG4) mutations is found more often in males: report of novel mutations from one centre, and review of published literat... von Proukakis, C, Moore, D, Labrum, R, Wood, N W, Houlden, H

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Sodium and chloride channelopathies with myositis: Coincidence or connection? von Matthews, Emma, Miller, James A.L., MacLeod, Malcolm R., Ironside, James, Ambler, Gareth, Labrum, Robin, Sud, Richa, Holton, Janice L., Hanna, Michael G.

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The natural history of spinocerebellar ataxia type 1, 2, 3, and 6 von Jacobi, H, Bauer, P, Giunti, P, Labrum, R, Sweeney, M G, Charles, P, Duerr, A, Marelli, C, Globas, C, Linnemann, C, Schoels, L, Rakowicz, M, Rola, R, Klockgether, T

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Genetic testing for spinal muscular atrophy (SMA) in South Africa von Labrum, R, Krause, A, Rodda, J

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Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients von Brown, AF, Parkinson, MH, Garcia-Moreno, H, Mudanohwo, E, Labrum, R, Sweeney, M, Giunti, P

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Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications von Macken, WL, Falabella, M, Pizzamiglio, C, Woodward, CE, Scotchman, E, Chitty, LS, Polke, JM, Bugiardini, E, Hanna, MG, Vandrovcova, J, Chandler, N, Labrum, R, Pitceathly, RDS

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Parkinson’s families project: a UK-wide study of early onset and familial Parkinson’s disease von Towns, C, Fang, Z.-H, Tan, M.M.X, Jasaityte, S, Schmaderer, T.M, Stafford, E.J, Pollard, M, Tilney, R, Hodgson, M, Wu, L, Labrum, R, Hehir, J, Polke, J, Lange, L.M, Schapira, A.H.V, Bhatia, K.P, Morris, H.R, Real, R, Jarman, P.R, Wood, N.W, Wakeman, E, Saifee, T, Arianayagam, S, Shaik, S, Molloy, S, Gregory, R, Wickremaratchi, M, Buccoliero, R, Bandmann, O, Paviour, D, Padiachy, D, Misbahuddin, A, Cosgrove, J, Guptha, S, Chaudhuri, R, Tai, Y, Asad, S, Funaki, A, Kunc, M, Brierley, C, Sheridan, R, Truscott, R, Dean, S, Vickers, C, Sophia, R, Jones, S, Capps, E, Archibald, N, Wiblin, L, Slaght, S.J, Jones, E, Barnes, C, D’Costa, D, Mann, C, Nath, U, Schrag, A, Williams, S, Webster, G, Sveinbjornsdottir, S, Strens, L, Hand, A, Walker, R, Crouch, R, Raw, J, Tuck, S, Amar, K, Wales, E, Gentilini, I, Nacorda, A, Hartley, L, Singleton, A.B, Blauwendraat, C, Klein, C, Houlden, H

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Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich's Ataxia in a Location Dependent Manner von Nethisinghe, S, Kesavan, M, Ging, H, Labrum, R, Polke, JM, Islam, S, Garcia-Moreno, H, Callaghan, MF, Cavalcanti, F, Pook, MA, Giunti, P

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The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia von Yau, WY, Raposo, M, Bettencourt, C, Labrum, R, Vasconcelos, J, Parkinson, MH, Giunti, P, Wood, NW, Lima, M, Houlden, H

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