Friedreich’s ataxia: clinical features, pathogenesis and management

Por Cook, A, Giunti, P
Publicado no Br Med Bull (2017)

Preliminary Characterisation of Cognition and Social Cognition in Spinocerebellar Ataxia Types 2, 1, and 7

Por Sokolovsky, N., Cook, A., Hunt, H., Giunti, P., Cipolotti, L.
Publicado no Behav Neurol (2010)

A Preliminary Characterisation of Cognition and Social Cognition in Spinocerebellar Ataxia Types 2, 1, and 7

Por Sokolovsky, N., Cook, A., Hunt, H., Giunti, P., Cipolotti, L.
Publicado no Behav Neurol (2010)

Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation.

Por Giunti, P, Stevanin, G, Worth, P F, David, G, Brice, A, Wood, N W
Publicado em 1999

Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

Por Worth, P F, Giunti, P, Gardner-Thorpe, C, Dixon, P H, Davis, M B, Wood, N W
Publicado em 1999

Clusters of non-truncating mutations of P/Q type Ca(2+) channel subunit Ca(v)2.1 causing episodic ataxia 2

Por Mantuano, E, Veneziano, L, Spadaro, M, Giunti, P, Guida, S, Leggio, M, Verriello, L, Wood, N, Jodice, C, Frontali, M
Publicado em 2004

Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.

Por Jodice, C., Malaspina, P., Persichetti, F., Novelletto, A., Spadaro, M., Giunti, P., Morocutti, C., Terrenato, L., Harding, A. E., Frontali, M.
Publicado em 1994

'Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich's ataxia'

Por Abeti, R, Parkinson, M H, Hargreaves, I P, Angelova, P R, Sandi, C, Pook, M A, Giunti, P, Abramov, A Y
Publicado no Cell Death Dis (2016)

Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series

Por van de Leemput, J, Wavrant-De Vrièze, F, Rafferty, I, Bras, JM, Giunti, P, Fisher, EMC, Hardy, J, Singleton, AB, Houlden, H
Publicado em 2010

The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus.

Por David, G., Giunti, P., Abbas, N., Coullin, P., Stevanin, G., Horta, W., Gemmill, R., Weissenbach, J., Wood, N., Cunha, S., Drabkin, H., Harding, A. E., Agid, Y., Brice, A.
Publicado em 1996

A panel of nine cerebrospinal fluid biomarkers may identify patients with atypical parkinsonian syndromes

Por 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
Publicado no J Neurol Neurosurg Psychiatry (2015)

Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study

Por 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.
Publicado em 2001

The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: A 2-year follow-up study

Por Jacobi, H., Bauer, P., Giunti, P., Labrum, R., Sweeney, M.G., Charles, P., Dürr, A., Marelli, C., Globas, C., Linnemann, C., Schöls, L., Rakowicz, M., Rola, R., Zdzienicka, E., Schmitz-Hübsch, T., Fancellu, R., Mariotti, C., Tomasello, C., Baliko, L., Melegh, B., 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., Depondt, C., Pandolfo, M., Kang, J.-S., Ratzka, S., Schulz, J., Tezenas du Montcel, S., Klockgether, T.
Publicado em 2011