Výsledky vyhledávání - "R A I, de Vos"

Spinocerebellar ataxia type 6 (SCA6)

Autor: Helenius J. Schelhaas, Elisabeth Petrasch-Parwez, Thomas Deller, P. F. Ippel, Ludger Schöls, W. F. A. den Dunnen, Ewout R. Brunt, Rupert Egensperger, K. Gierga, Udo Rüb, W. Scherzed, Kay Seidel, R. A. I. de Vos

Publikováno v: Neuropathology and Applied Neurobiology, 35(5), 515-527. WILEY-BLACKWELL
Neuropathology and Applied Neurobiology, 35, 515-27
Neuropathology and Applied Neurobiology, 35, 5, pp. 515-27

Contains fulltext : 81519.pdf (Publisher’s version ) (Closed access) AIMS: Spinocerebellar ataxia type 6 (SCA6) is a late onset autosomal dominantly inherited ataxic disorder, which belongs to the group of CAG repeat, or polyglutamine, diseases. Al

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1216c0f4f99b7a0aefae1b9a5cef8350
https://doi.org/10.1111/j.1365-2990.2009.01015.x

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Involvement of the auditory brainstem system in spinocerebellar ataxia type 2 (SCA2), type 3 (SCA3) and type 7 (SCA7)

Autor: Franziska Hoche, R. A. I. de Vos, Kay Seidel, W. F. A. den Dunnen, Georg Auburger, Ludger Schöls, Rupert Egensperger, Ewout R. Brunt, Katrin Bürk, K. Gierga, Udo Rüb, I. Bechmann, C. Van Broeckhoven, Thomas Deller

Publikováno v: Neuropathology and applied neurobiology
Neuropathology and Applied Neurobiology, 34(5), 479-491. WILEY-BLACKWELL

Aims: The spinocerebellar ataxia type 2 (SCA2), type 3 (SCA3) and type 7 (SCA7) are clinically characterized by progressive and severe ataxic symptoms, dysarthria, dysphagia, oculomotor impairments, pyramidal and extrapyramidal manifestations and sen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::100d897e820b0add9d096f55d1e152ec
https://doi.org/10.1111/j.1365-2990.2007.00933.x

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Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult-onset patient with progressive visual impairments in comparison with an adult-onset patient without visual impairments

Autor: Thomas Deller, Ewout R. Brunt, A. R. La Spada, M. Kettner, C. M. Mooy, R. A. I. de Vos, Udo Rüb, I. Bechmann, C. Van Broeckhoven, Kay Seidel, W. F. A. den Dunnen, Ludger Schöls, K. Gierga

Publikováno v: Neuropathology and Applied Neurobiology, 34(2), 155-168. Wiley-Blackwell Publishing Ltd
Neuropathology and Applied Neurobiology, 34(2), 155-168. WILEY-BLACKWELL
Neuropathology and applied neurobiology

Spinocerebellar ataxia type 7 (SCA7) represents a rare and severe autosomal dominantly inherited ataxic disorder and is among the known CAG-repeat, or polyglutamine, diseases. In contrast to other currently known autosomal dominantly inherited ataxic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f2c44ce56128e5d3666f2ac0b69e104
https://doi.org/10.1111/j.1365-2990.2007.00882.x

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Molecular misreading: the occurrence of frameshift proteins in different diseases

Autor: R. A. I. de Vos, F. Van Leeuwen, W. Kamphorst, C. van Schravendijk, J.M. Kros

Publikováno v: Biochemical Society Transactions, 34, 738-742. Portland Press, Ltd.

Neuronal homoeostasis requires a constant balance between biosynthetic and catabolic processes. Eukaryotic cells primarily use two distinct mechanisms for degradation: the proteasome and autophagy of aggregates by the lysosomes. We focused on the UPS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5907cb6b1ec221a56c7af93dd5643ca4
https://doi.org/10.1042/bst0340738

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Cognitive status correlates with neuropathologic stage in Parkinson disease

Autor: K. Del Tredici, R. A. I. de Vos, E.N.H. Jansen Steur, Udo Rüb, Heiko Braak

Publikováno v: Neurology. 64:1404-1410

To study the association of cognitive status with the stages of a published neuropathologic staging procedure for sporadic Parkinson disease (PD) in a cohort of 88 patients with PD from a single neurologic unit. None had received the clinical diagnos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67996dd6bb97f15582d0274b7d16efc0
https://doi.org/10.1212/01.wnl.0000158422.41380.82

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Degeneration of the central vestibular system in spinocerebellar ataxia type 3 (SCA3) patients and its possible clinical significance

Autor: K. Gierga, Katrin Bürk, D. Del Turco, Estifanos Ghebremedhin, R. A. I. de Vos, Georg Auburger, Udo Rüb, Ewout R. Brunt, Christian Schultz, Heiko Braak, K. Del Tredici

Publikováno v: Neuropathology and Applied Neurobiology. 30:402-414

Although the vestibular complex represents an important component of the neural circuits crucial for the maintenance of truncal and postural stability, and it is integrated into specialized oculomotor circuits, knowledge regarding the extent of the i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0b89c6ffb3c3bf5462f6ebfd685ae1a8
https://doi.org/10.1111/j.1365-2990.2004.00554.x

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Anatomically based guidelines for systematic investigation of the central somatosensory system and their application to a spinocerebellar ataxia type 2 (SCA2) patient

Autor: K. Gierga, Carola Seifried, Guido Reifenberger, Udo Rüb, Christian Schultz, Georg Auburger, Heiko Braak, K. Del Tredici, R. A. I. de Vos

Publikováno v: Neuropathology and Applied Neurobiology. 29:418-433

Dysfunctions of the somatosensory system are among the clinical signs that characterize a variety of polyglutamine or CAG-repeat diseases. Deficits within this system may hinder the perception of potential threats, be detrimental to somatomotor funct

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::80d4cb56605620323a65e9962603c6ae
https://doi.org/10.1046/j.1365-2990.2003.00504.x

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Thalamic involvement in a spinocerebellar ataxia type 2 (SCA2) and a spinocerebellar ataxia type 3 (SCA3) patient, and its clinical relevance

Autor: R. A. I. de Vos, Ewout R. Brunt, Udo Rüb, Christian Schultz, K. Del Tredici, Heiko Braak, D. Del Turco, Carola Seifried, Georg Auburger, Guido Reifenberger

Publikováno v: Brain, 126, 2257-2272. Oxford University Press

In spite of the considerable progress in clinical and molecular research, knowledge regarding brain damage in spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3) still is limited and the extent to which the thalamus is involved in both diseases is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc50c86bcb0baee332d6986d126f949f
https://doi.org/10.1093/brain/awg234

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Guidelines for the pathoanatomical examination of the lower brain stem in ingestive and swallowing disorders and its application to a dysphagic spinocerebellar ataxia type 3 patient

Autor: Heiko Braak, K. Gierga, Udo Rüb, Henry L. Paulson, D. Del Turco, Ewout R. Brunt, R. A. I. de Vos

Publikováno v: Neuropathology and Applied Neurobiology. 29:1-13

Despite the fact that considerable progress has been made in the last 20 years regarding the three-phase process of ingestion and the lower brain stem nuclei involved in it, no comprehensive descriptions of the ingestion-related lower brain stem nucl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d92045dd0034c489bc13b4ee00a5ead0
https://doi.org/10.1046/j.1365-2990.2003.00437.x

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The nucleus raphe interpositus in spinocerebellar ataxia type 3 (Machado-Joseph disease)

Autor: R. A. I. de Vos, Udo Rüb, Henry L. Paulson, Ewout R. Brunt, Christian Schultz, K. Gierga, Heiko Braak

Publikováno v: Journal of Chemical Neuroanatomy, 25(2), 115-127

The nucleus raphe interpositus (RIP) plays an important role in the premotor network for saccades. Its omnipause neurons gate the activity of the burst neurons for vertical saccades lying within the rostral interstitial nucleus of the medial longitud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fa664d413b258058544c6b58db73313
https://hdl.handle.net/11370/c5e8eb2b-dbfe-4e8e-81fb-6a3e7b60b372

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