Friedreich's ataxia: clinical features, pathogenesis and management von Cook, A, Giunti, P

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EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood von van de Warrenburg, B. P. C., van Gaalen, J., Boesch, S., Burgunder, J.-M., Dürr, A., Giunti, P., Klockgether, T., Mariotti, C., Pandolfo, M., Riess, O.

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A panel of nine cerebrospinal fluid biomarkers may identify patients with atypical parkinsonian syndromes von Magdalinou, N K, Paterson, R W, Schott, J M, Fox, N C, Mummery, C, Blennow, K, Bhatia, K, Morris, H R, Giunti, P, Warner, T T, de Silva, R, Lees, A J, Zetterberg, H

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Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich’s ataxia von Abeti, R, Parkinson, M H, Hargreaves, I P, Angelova, P R, Sandi, C, Pook, M A, Giunti, P, Abramov, A Y

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Scale for the assessment and rating of ataxia : Development of a new clinical scale von SCHMITZ-HÜBSCH, T, TEZENAS DU MONTCEL, S, KREMER, B, MARIOTTI, C, MELEGH, B, PANDOLFO, M, RAKOWICZ, M, RIBAI, P, ROLA, R, SCHOLS, L, SZYMANSKI, S, VAN DE WARRENBURG, B. P, BALIKO, L, DÜRR, A, KLOCKGETHER, T, BERCIANO, J, BOESCH, S, DEPONDT, C, GIUNTI, P, GLOBAS, C, INFANTE, J, KANG, J.-S

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Inventory of Non-Ataxia Signs (INAS): Validation of a New Clinical Assessment Instrument von Jacobi, H., Rakowicz, M., Rola, R., Fancellu, R., Mariotti, C., Charles, P., Dürr, A., Küper, M., Timmann, D., Linnemann, C., Schöls, L., Kaut, O., Schaub, C., Filla, A., Baliko, L., Melegh, B., Kang, J.-S., Giunti, P., van de Warrenburg, B. P. C., Fimmers, R., Klockgether, T.

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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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Spinocerebellar ataxia types 1, 2, 3, and 6 : Disease severity and nonataxia symptoms von SCHMITZ-HÜBSCH, T, COUDERT, M, RIBAI, P, SZYMANSKI, S, INFANTE, J, VAN DE WARRENBURG, B. P. C, DÜRR, A, TIMMANN, D, BOESCH, S, FANCELLU, R, ROLA, R, DEPONDT, C, BAUER, P, SCHÖLS, L, ZDIENICKA, E, KANG, J.-S, DÖHLINGER, S, KREMER, B, STEPHENSON, D. A, MELEGH, B, PANDOLFO, M, DI DONATO, S, TEZENAS DU MONTCEL, S, GIUNTI, P, KLOCKGETHER, T, GLOBAS, C, BALIKO, L, FILLA, A, MARIOTTI, C, RAKOWICZ, M, CHARLES, P

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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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A preliminary characterisation of cognition and social cognition in spinocerebellar ataxia types 2, 1, and 7 von Sokolovsky, N, Cook, A, Hunt, H, Giunti, P, Cipolotti, L

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Cognitive and social cognitive functioning in spinocerebellar ataxia: A preliminary characterization von Garrard, P., Martin, N. H., Giunti, P., Cipolotti, L.

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A preliminary characterisation of cognition and social cognition in spinocerebellar ataxia types 2, 1, and 7 von Sokolovsky, N, Cook, A, Hunt, H, Giunti, P, Cipolotti, L

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SCA Functional Index : A useful compound performance measure for spinocerebellar ataxia von SCHMITZ-HÜBSCH, T, GIUNTI, P, VAN DE WARRENBURG, B. P. C, TIMMANN, D, FANCELLU, R, FROLA, R, DEPONDT, C, SCHÖLS, L, ZDZIENICKA, E, KANG, J.-S, DOHLINGER, S, KREMER, B, STEPHENSON, D. A, MELEGH, B, FILLA, A, KLOCKGETHER, T, GLOBAS, C, BALIKO, L, SACCA, F, MARIOTTI, C, RAKOWICZ, M, SZYMANSKI, S, INFANTE, J

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Prospective Analysis of Falls in Dominant Ataxias von Fonteyn, E.M.R., Schmitz-Hübsch, T., Verstappen, C.C.P., Baliko, L., Bloem, B.R., Boesch, S., Bunn, L., Giunti, P., Globas, C., Klockgether, T., Melegh, B., Pandolfo, M., Schöls, L., Timmann, D., van de Warrenburg, B.P.C.

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The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group von Kamm, C., Healy, D. G., Quinn, N. P., Wüllner, U., Moller, J. C., Schols, L., Geser, F., Burk, K., Børglum, A. D., Pellecchia, M. T., Tolosa, E., del Sorbo, F., Nilsson, C., Bandmann, O., Sharma, M., Mayer, P., Gasteiger, M., Haworth, A., Ozawa, T., Lees, A. J., Short, J., Giunti, P., Holinski-Feder, E., Illig, T., Wichmann, H. E., Wenning, G. K., Wood, N. W., Gasser, T.

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Autosomal Dominant Cerebellar Ataxia Type III: Linkage in a Large British Family to a 7.6-cM Region on Chromosome 15q14-21.3 von Worth, P.F., Giunti, P., Gardner-Thorpe, C., Dixon, P.H., Davis, M.B., Wood, N.W.

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Andersen-Tawil syndrome : New potassium channel mutations and possible phenotypic variation von DAVIES, N. P, IMBRICI, P, GIUNTI, P, PARSONS, L. M, THOMAS, M, MANZUR, A. Y, JURKAT-ROTT, K, LEHMANN-HORN, F, CHINNERY, P. F, ROSE, M, KULLMANN, D. M, HANNA, M. G, FIALHO, D, HERD, C, BILSLAND, L. G, WEBER, A, MUELLER, R, HILTON-JONES, D, EALING, J, BOOTHMAN, B. R

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Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases von PANG, Joanna T, GIUNTI, Paola, CHAMBERLAIN, Susan, AN, Shu F, VITALIANI, Roberta, SCARAVILLI, Tomaso, MARTINIAN, Lillian, WOOD, Nicholas W, SCARAVILLI, Francesco, ANSORGE, Olaf

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Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study von Gaspar, C., Lopes-Cendes, I., Hayes, S., Goto, J., Arvidsson, K., Dias, A., Silveira, I., Maciel, P., Coutinho, P., Lima, M., Zhou, Y.-X., Soong, B.-W., Watanabe, M., Giunti, P., Stevanin, G., Riess, O., Sasaki, H., Hsieh, M., Nicholson, G.A., Brunt, E., Higgins, J.J., Lauritzen, M., Tranebjaerg, L., Volpini, V., Wood, N., Ranum, L., Tsuji, S., Brice, A., Sequeiros, J., Rouleau, G.A.

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Molecular and Clinical Study of 18 Families with ADCA Type II: Evidence for Genetic Heterogeneity and De Novo Mutation von Giunti, P., Stevanin, G., Worth, P.F., David, G., Brice, A., Wood, N.W.

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