Results 121 to 130 of about 27,164 (223)

Static and Abduction Versus Adduction Dynamic Ocular Motor Abnormalities in Spinocerebellar Ataxia Type 3 (Slides)

, 2020
Static [esotropia] and dynamic [gaze-evoked and optokinetic nystagmus (GEN; OKN), hypometric/hypermetric saccades, low gain pursuit and head impulse (HI)] ocular motor abnormalities (OMA) have all been described in spinocerebellar ataxia type 3 (SCA3 ...
Joao Lemos; Ana Novo; Cristina Duque; Joana Ribeiro; Cristina Januario
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Static and Abduction Versus Adduction Dynamic Ocular Motor Abnormalities in Spinocerebellar Ataxia Type 3 (PDF)

, 2020
Static [esotropia] and dynamic [gaze-evoked and optokinetic nystagmus (GEN; OKN), hypometric/hypermetric saccades, low gain pursuit and head impulse (HI)] ocular motor abnormalities (OMA) have all been described in spinocerebellar ataxia type 3 (SCA3 ...
Joao Lemos; Ana Novo; Cristina Duque; Joana Ribeiro; Cristina Januario
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Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings.

, 2011
To assess the clinical spectrum of ataxia and cerebellar oculomotor deficits in the most common spinocerebellar ataxias (SCAs), we analysed the baseline data of the EUROSCA natural history study, a multicentric cohort study of 526 patients with either ...
Klockgether, T., A. Dürr, Till-Karsten Hauser, Filla, A, P. Charles, Schoels, Ludger, Sandra Szymanski, Rafal Rola, Melegh, B., Bart P. C. van de Warrenburg, Dennis A. Stephenson, Bauer, P., Charles, P, Susanne Ratzka, Schmitz-Hübsch, T, Berry Kremer, Massimo Pandolfo, Schulz, Joerg B., Ludger Schöls, Boesch, S, van de Warrenburg, B P, Charles, Perine, Sylvia Boesch, Sophie Tezenas du Montcel, Zdzienicka, E., M. Rakowicz, Schmitz-Hubsch, T., T. Schmitz Hübsch, R. Rola, L. Schöls, Chantal Depondt, Giunti, P., B. P. C, Kang, Jun-Suk, Pascale Ribai, Mariotti, Christian, Béla Melegh, Paola Giunti, Pandolfo, Massimo, van de Warrenburg, Bart P. C., Warrenburg, B.P.C. van de, S. T. du, Stephenson, D A, P. Bauer, Baliko, L., L. Baliko, C. Globas, Dürr, Alexandra, H. Jacobi, Roberto Fancellu, B. Melegh, Caterina Mariotti, S. Ratzka, Giunti, P, Mariotti, C., Schols, L., S. Boesch, Thomas Klockgether, Jun-Suk Kang, Durr, A., Boesch, Sylvia, Melegh, Bela, Borkert, J., Kremer, Berry, Perine Charles, Infante, J., Ratzka, S., Johannes Borkert, Schöls, Lüdger, Filla, Alessandro, J. Infante, Infante, Jon, Kremer, B., Filla, A., Globas, C., Bauer, Peter, Jörg B. Schulz, du Montcel, S Tezenas, Zdzienicka, E, Jon Infante, Baliko, László, B. Kremer, Rola, R., Depondt, C., J. B. Schulz, Kang, J.S., Klockgether, T, P. Giunti, Schulz, Jörg Bernhard, Pandolfo, M., Schulz, J.B., du Montcel, Sophie Tezenas, Christoph Globas, Kremer, B, Tezenas du Montcel, S., van de Warrenburg, Bart P., P. Ribai, S. Szymanski, M. Pandolfo, Schmitz-Hübsch, Tanja, Dagmar Timmann, T. Klockgether, Hauser, Till-Karsten, Maria Rakowicz, Tezenas du Montcel, Sophie, C. Mariotti, László Baliko, Schulz, Jörg B., van de Warrenburg, Bart P.C., J. Borkert, Schulz B., Jörg, Rakowicz, M, Boesch, S., Rola, Rafal, Tanja Schmitz-Hübsch, Zdzienicka, Elzbieta, Stephenson, D.A., Duerr, Alexandra, Hauser, T.K., C. Depondt, Fancellu, Roberto, Jacobi, H., D. A. Stephenson, Balikó, Lazlo, Infante, J, Mariotti, Caterina, Kang, J-S, Giunti, Paola, D. Timmann, Ribaï, Pascale, Rola, R, Szymanski, Sandra, Klockgether, Thomas, Rakowicz, Maria, Alessandro Filla, Elzbieta Zdzienicka, Jacobi, Heike, Globas, C, Stephenson, Dennis A., Peter Bauer, Alexandra Dürr, Fancellu, R., J. Kang, Timmann, D, Depondt, Chantal, Charles, Perrine, R. Fancellu, Szymanski, S., Timmann, D., Ratzka, Susanne, Globas, Christoph, Ribai, P., Heike Jacobi, Rakowicz, M., Szymanski, S, T. Hauser, Schmitz-Huebsch, Tanja, Timmann, Dagmar, Borkert, Johannes, Charles, P., E. Zdzienicka   +160 more
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Static and Abduction Versus Adduction Dynamic Ocular Motor Abnormalities in Spinocerebellar Ataxia Type 3 (Video)

, 2020
Static [esotropia] and dynamic [gaze-evoked and optokinetic nystagmus (GEN; OKN), hypometric/hypermetric saccades, low gain pursuit and head impulse (HI)] ocular motor abnormalities (OMA) have all been described in spinocerebellar ataxia type 3 (SCA3 ...
Joao Lemos; Ana Novo; Cristina Duque; Joana Ribeiro; Cristina Januario
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The Importance Of Protein Context In Spinocerebellar Ataxia Type 3

, 2022
Spinocerebellar Ataxia Type 3 (SCA3) is a member of the family of polyglutamine (polyQ) neurodegenerative disorders that includes Huntington\u27s Disease and several other SCAs. SCA3, the most common dominant ataxia in the world, is caused by polyQ tract
Johnson, Sean Luis
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Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice

, 2017
Spinocerebellar ataxia type 3 (SCA3) is a currently incurable neurodegenerative disorder caused by a CAG triplet expansion in exon 10 of the ATXN3 gene.
Haico van Attikum, Toonen, L.J.A., Lodewijk J.A. Toonen, Frank Rigo, Attikum, H. van, Roon-Mom, W.M.C. van, Rigo, F., Willeke M.C. van Roon-Mom   +7 more
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Choroid plexus enlargement correlated with motor dysfunction in spinocerebellar ataxia type 3

Neurobiology of Disease
Objective: To investigate Choroid plexus (CP) structural changes using multimodal MRI, and assess the correlation between CP damage and motor dysfunction in SCA3 patients.
Zhiming Zhen, Peiling Ou, Yonghua Huang, Lihua Deng, Yue Chen, He Liu, Yanqiu Hua, Wei Chen, Huafu Chen, Peiyu Huang, Zhentao Zuo, Chen Liu   +11 more
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Genetic screening for SACS, ABHD12 and PRICKLE1 mutations in ataxia patients from Southern Italy

, 2011
Genetic screening for SACS, ABHD12 and PRICKLE1 mutations in ataxia patients from Southern Italy. INTRODUCTION Autosomal recessive (AR) spinocerebellar ataxias constitute a heterogeneous group of neurodegenerative disorders mainly characterized by ...
De Leva, Maria Fulvia
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Protein surveillance machinery in brains with spinocerebellar ataxia type 3: Redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions

, 2002
Intracellular aggregates commonly forming neuronal intranuclear inclusions are neuropathological hallmarks of spinocerebellar ataxia type 3 and of other disorders characterized by expanded polyglutamine-(poly-Q) tracts. To characterize cellular responses
Ludger Schöls, Schols, Ludger, Rechsteiner, M., Laccone, Franco A., Schmidt, T., Jochen Herms, Antje Krebs, Riess, Olaf, Olaf Riess, Herms, J., Franco Laccone, Martin Rechsteiner, Krebs, A., Katrin S. Lindenberg, Landwehrmeyer, G. B., G. Bernhard Landwehrmeyer, Thorsten Schmidt, Lindenberg, K. S.   +17 more
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Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease [PDF]

Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD) is a heritable proteinopathy disorder, whose causative gene, ATXN3, undergoes alternative splicing. Ataxin-3 protein isoforms differ in their toxicity, suggesting that certain ATXN3 splice
Faber, Jennifer, Santana, Magda M, Raposo, Mafalda, Giunti, Paola, Kay, Teresa, do Carmo Costa, Maria, European Spinocerebellar ataxia type 3/Machado-Joseph disease In, Klockgether, Thomas, de Vries, Jeroen J, Melo, Ana Rosa Vieira, Pires, Paula, Lima, Manuela, Infante, Jon, Garcia-Moreno, Hector, Admard, Jakob, Schöls, Ludger, Riess, Olaf, Hübener-Schmid, Jeannette, de Almeida, Luis Pereira, van de Warrenburg, Bart P, Ferreira, Ana F, Vasconcelos, João, Tagett, Rebecca, Casadei, Nicolas   +23 more
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