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152. New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism.

Author

Rawal, N., Periquet, M., Lohmann, E., Lucking, C.B., Teive, H., Ambrosio, G., Raskin, S., Lincoln, S., Hattori, N., Guimaraes, J., Horstink, M.W.I.M., Santos Bele, W. Dos, Brousolle, E., Destee, A., Mizuno, Y., Farrer, M., Deleuze, J.F., Michele, G. de, Agid, Y., Durr, A., Brice, A., Rawal, N., Periquet, M., Lohmann, E., Lucking, C.B., Teive, H., Ambrosio, G., Raskin, S., Lincoln, S., Hattori, N., Guimaraes, J., Horstink, M.W.I.M., Santos Bele, W. Dos, Brousolle, E., Destee, A., Mizuno, Y., Farrer, M., Deleuze, J.F., Michele, G. de, Agid, Y., Durr, A., and Brice, A.

Abstract

Item does not contain fulltext, The frequency of parkin mutations was evaluated in 30 families of highly diverse geographic origin with early-onset autosomal recessive parkinsonism. Twelve different mutations, six of which were new, were found in 10 families from Europe and Brazil. Patients with parkin mutations had significantly longer disease duration than patients without the mutation but with similar severity of disease, suggesting a slower disease course. Two patients with parkin mutations had atypical clinical presentation at onset, with predominant tremor when standing.

Published
2003

155. Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

Author

Lesage, Suzanne, primary, Anheim, Mathieu, additional, Condroyer, Christel, additional, Pollak, Pierre, additional, Durif, Franck, additional, Dupuits, Céline, additional, Viallet, François, additional, Lohmann, Ebba, additional, Corvol, Jean-Christophe, additional, Honoré, Aurélie, additional, Rivaud, Sophie, additional, Vidailhet, Marie, additional, Dürr, Alexandra, additional, Brice, Alexis, additional, Agid, Y., additional, Bonnet, A.-M., additional, Borg, M., additional, Brice, A., additional, Broussolle, E., additional, Damier, Ph., additional, Destée, A., additional, Dürr, A., additional, Durif, F., additional, Lesage, S., additional, Lohmann, E., additional, Martinez, M., additional, Pollak, P., additional, Rascol, O., additional, Tison, F., additional, Tranchant, C., additional, Troiano, A., additional, Vérin, M., additional, Viallet, F., additional, and Vidailhet, M., additional

Published
2010
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159. Are dopaminergic neurons selectively vulnerable to Parkinson's disease?

Author

Agid Y, Ruberg M, Javoy-Agid F, Etienne Hirsch, Raisman-Vozari R, Vyas S, Faucheux B, Michel P, Kastner A, and Blanchard V

Subjects
Cell Death, Risk Factors, Dopamine, Nerve Degeneration, Brain, Humans, Cell Count, Parkinson Disease, Environmental Exposure, Receptors, Dopamine
Published
1993

161. Lateral visually-guided saccades in progressive supranuclear palsy

Author

Pierrot-Deseilligny, C., Rivaud, S., Pillon, B., Fournier, E., and Agid, Y.

Subjects
Eyelids -- Abnormalities, Vision -- Abnormalities, Progressive supranuclear palsy, Health
Abstract

Progressive supranuclear palsy is a degenerative disease of the central nervous system resulting in a growing paralysis of the facial muscles. Patients with this disease were given an eye-movement test in order to increase understanding of exactly which areas of the eye control system are affected by the disease. On average, the palsy patients were just as fast at shifting their gaze from one object to another as patients without this paralysis. But the lengths of time they took varied more than the normal subjects. When asked to look not towards but away from a new object which had just become visible, the patients who responded fastest also looked the wrong way most frequently. The implications are that fast responses may be caused by severe damage to the part of the brain that suppresses rapid shifts of gaze (saccades). Slow responses may be caused by damage to nerve systems outside the eye itself or to the systems responsible for changes of visual attention. At the beginning of the study patients had widely varying scores, some being particularly fast and some particularly slow, but after several months the scores of all the patients were much closer together. This gradual change over time may be due to interaction between damage to the part of the brain that suppresses shifts of gaze and damage to the circuits responsible for shifts of gaze.

Published
1989

162. Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.

Author

Periquet, M., Lucking, C.B., Vaughan, J.R., Bonifati, V., Durr, A., Michele, G. de, Horstink, M.W.I.M., Farrer, M., Illarioshkin, S.N., Pollak, P., Borg, M., Brefel-Courbon, C., Denefle, P., Meco, G., Gasser, T., Breteler, M.M.B., Wood, N.W., Agid, Y., Brice, A., Periquet, M., Lucking, C.B., Vaughan, J.R., Bonifati, V., Durr, A., Michele, G. de, Horstink, M.W.I.M., Farrer, M., Illarioshkin, S.N., Pollak, P., Borg, M., Brefel-Courbon, C., Denefle, P., Meco, G., Gasser, T., Breteler, M.M.B., Wood, N.W., Agid, Y., and Brice, A.

Abstract

Item does not contain fulltext, A wide variety of mutations in the parkin gene, including exon deletions and duplications, as well as point mutations, result in autosomal recessive early-onset parkinsonism. Interestingly, several of these anomalies were found repeatedly in unrelated patients and may therefore result from recurrent, de novo mutational events or from founder effects. In the present study, haplotype analysis, using 10 microsatellite markers covering a 4.7-cM region known to contain the parkin gene, was performed in 48 families, mostly from European countries, with early-onset autosomal recessive parkinsonism. The patients carried 14 distinct mutations in the parkin gene, and each mutation was detected in more than one family. Our results support the hypothesis that exon rearrangements occurred independently, whereas some point mutations, found in families from different geographic origins, may have been transmitted by a common founder.

Published
2001

166. Distribution of ataxin-7 in normal human brain and retina.

Author

Cancel, G, Duyckaerts, C, Holmberg, M, Zander, C, Yvert, G, Lebre, A S, Ruberg, M, Faucheux, B, Agid, Y, Hirsch, E, Brice, A, Cancel, G, Duyckaerts, C, Holmberg, M, Zander, C, Yvert, G, Lebre, A S, Ruberg, M, Faucheux, B, Agid, Y, Hirsch, E, and Brice, A

Published
2000

173. Efficacité des effets moteurs et non moteurs de la stimulation pallidale bilatérale dans la dystonie généralisée primaire : trois ans d’évolution

Author

Vidailhet, M., primary, Houeto, J., additional, Vercueil, L., additional, Lagrange, C., additional, Krystkowiak, P., additional, Ardouin, C., additional, Pillon, B., additional, Dujardin, K., additional, Fraix, V., additional, Grabli, D., additional, Welter, M., additional, Benabid, A., additional, Navarro, S., additional, Blond, S., additional, Destée, A., additional, Agid, Y., additional, Yelnik, J., additional, and Pollak, P., additional

Published
2007
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175. Neurosurgery at an earlier stage of Parkinson disease: A randomized, controlled trial

Author

Schupbach, W.M.M., primary, Maltete, D., additional, Houeto, J. L., additional, du Montcel, S. T., additional, Mallet, L., additional, Welter, M. L., additional, Gargiulo, M., additional, Behar, C., additional, Bonnet, A. M., additional, Czernecki, V., additional, Pidoux, B., additional, Navarro, S., additional, Dormont, D., additional, Cornu, P., additional, and Agid, Y., additional

Published
2006
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179. The nigrostriatal system in Parkinson's disease

Author

Am, Graybiel, Etienne Hirsch, and Agid Y

Subjects
Substantia Nigra, Brain Mapping, Neurotransmitter Agents, Nerve Degeneration, Animals, Humans, Parkinson Disease, Corpus Striatum, Receptors, Dopamine, Receptors, Neurotransmitter
Abstract

Patterns of dopaminergic cell loss in the midbrain and patterns of mesostriatal fiber loss in the caudate nucleus and putamen are described for cases of idiopathic Parkinson's disease. Neither cell loss nor fiber loss is homogeneous. In the midbrain, quantitative analysis points to a selective vulnerability of neurons in the most heavily pigmented dopaminergic cell groups. In the striatum, a dorsolateral-to-ventromedial gradient of loss appears to characterize both the caudate nucleus and the putamen. These patterns of loss and sparing have implications both for analysis of the clinical symptoms of Parkinson's disease and for study of the etiology of this disease.

Published
1990

181. Parkinson disease, brain volumes, and subthalamic nucleus stimulation

Author

Bonneville, F., primary, Welter, M. L., additional, Elie, C., additional, du Montcel, S. T., additional, Hasboun, D., additional, Menuel, C., additional, Houeto, J. L., additional, Bonnet, A. M., additional, Mesnage, V., additional, Pidoux, B., additional, Navarro, S., additional, Cornu, P., additional, Agid, Y., additional, and Dormont, D., additional

Published
2005
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190. Faut-il opérer les patients parkinsoniens précocement ?

Author

Welter, M.-L, primary, Maltete, D., additional, Houeto, J.-L., additional, Schupbach, M., additional, Mallet, L., additional, Gargiulo, M., additional, Behar, C., additional, Bonnet, A.-M., additional, Mesnage, V., additional, Pidoux, B., additional, Dormont, D., additional, Cornu, P., additional, Navarro, S., additional, and Agid, Y., additional

Published
2004
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192. New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism

Author

Rawal, N., primary, Periquet, M., additional, Lohmann, E., additional, Lucking, C.B., additional, Teive, H.A., additional, Ambrosio, G., additional, Raskin, S., additional, Lincoln, S., additional, Hattori, N., additional, Guimaraes, J., additional, Horstink, M.W.I.M., additional, Dos Santos Bele, W., additional, Brousolle, E., additional, Destee, A., additional, Mizuno, Y., additional, Farrer, M., additional, Deleuze, J.-F., additional, De Michele, G., additional, Agid, Y., additional, Durr, A., additional, and Brice, A., additional

Published
2003
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193. Subthalamic DBS replaces levodopa in Parkinson's disease: Two-year follow-up

Author

Lang, A.E., primary, Kleiner-Fisman, G., additional, Saint-Cyr, J.A., additional, Miyasaki, J., additional, Lozano, A., additional, Houeto, J.L., additional, Mesnage, V., additional, Welter, M.L., additional, Mallet, L., additional, Agid, Y., additional, Bejjani, B.P., additional, Berney, A., additional, Ghika, J., additional, Villemure, J.G., additional, and Vingerhoets, F.J. G., additional

Published
2003
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196. Parkinson's disease and sleepiness: An integral part of PD

Author

Arnulf, I., primary, Konofal, E., additional, Merino-Andreu, M., additional, Houeto, J. L., additional, Mesnage, V., additional, Welter, M. L., additional, Lacomblez, L., additional, Golmard, J. L., additional, Derenne, J. P., additional, and Agid, Y., additional

Published
2002
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