Zobrazeno 1 - 10 of 41 pro vyhledávání: '"Jeroen J. de Vries"'
1
Akademický článek
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease
Autor: Mafalda Raposo, Jeannette Hübener-Schmid, Rebecca Tagett, Ana F. Ferreira, Ana Rosa Vieira Melo, João Vasconcelos, Paula Pires, Teresa Kay, Hector Garcia-Moreno, Paola Giunti, Magda M. Santana, Luis Pereira de Almeida, Jon Infante, Bart P. van de Warrenburg, Jeroen J. de Vries, Jennifer Faber, Thomas Klockgether, Nicolas Casadei, Jakob Admard, Ludger Schöls, Olaf Riess, Maria do Carmo Costa, Manuela Lima
Publikováno v: Neurobiology of Disease, Vol 193, Iss , Pp 106456- (2024)
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 sp
Externí odkaz: https://doaj.org/article/55040c47afa6470abe2d27e0791d4080
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2
Akademický článek
A resting-state fMRI pattern of spinocerebellar ataxia type 3 and comparison with 18F-FDG PET
Autor: Harm J. van der Horn, Sanne K. Meles, Jelmer G. Kok, Victor M. Vergara, Shile Qi, Vince D. Calhoun, Jelle R. Dalenberg, Jeroen C.W. Siero, Remco J. Renken, Jeroen J. de Vries, Jacoba M. Spikman, Hubertus P.H. Kremer, Bauke M. De Jong
Publikováno v: NeuroImage: Clinical, Vol 34, Iss , Pp 103023- (2022)
Spinocerebellar ataxia type 3 (SCA3) is a rare genetic neurodegenerative disease. The neurobiological basis of SCA3 is still poorly understood, and up until now resting-state fMRI (rs-fMRI) has not been used to study this disease. In the current stud
Externí odkaz: https://doaj.org/article/4b6f9c067d1a4fd9a8fd2570b28a093f
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3
Akademický článek
The cerebral metabolic topography of spinocerebellar ataxia type 3
Autor: Sanne K. Meles, Jelmer G. Kok, Bauke M. De Jong, Remco J. Renken, Jeroen J. de Vries, Jacoba M. Spikman, Aaltje L. Ziengs, Antoon T.M. Willemsen, Harm J. van der Horn, Klaus L. Leenders, Hubertus P.H. Kremer
Publikováno v: NeuroImage: Clinical, Vol 19, Iss , Pp 90-97 (2018)
Introduction: We aimed to uncover the pattern of network-level changes in neuronal function in Spinocerebellar ataxia type 3 (SCA3). Methods: 17 genetically-confirmed SCA3 patients and 16 controls underwent structural MRI and static resting-state [18
Externí odkaz: https://doaj.org/article/cfa1543eb3cd48bdbeceddbc1335c461
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4
Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia
Autor: Fatemeh Ghorbani, Jelkje de Boer-Bergsma, Corien C. Verschuuren-Bemelmans, Maartje Pennings, Eddy N. de Boer, Berry Kremer, Els K. Vanhoutte, Jeroen J. de Vries, Raymond van de Berg, Erik-Jan Kamsteeg, Cleo C. van Diemen, Helga Westers, Bart P. van de Warrenburg, Dineke S. Verbeek
Publikováno v: Journal of Neurology, 269, 11, pp. 6086-6093
Journal of Neurology, 269(11), 6086-6093. Springer
Journal of Neurology, 269, 6086-6093
Journal of Neurology, 269. SPRINGER HEIDELBERG
Recently, an intronic biallelic (AAGGG)n repeat expansion in RFC1 was shown to be a cause of CANVAS and adult-onset ataxia in multiple populations. As the prevalence of the RFC1 repeat expansion in Dutch cases was unknown, we retrospectively tested 9
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfb2b2d8a088911455915fbe776cc272
https://hdl.handle.net/2066/287463
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5
A resting-state fMRI pattern of spinocerebellar ataxia type 3 and comparison with F-18-FDG PET
Autor: Harm J. van der Horn, Sanne K. Meles, Jelmer G. Kok, Victor M. Vergara, Shile Qi, Vince D. Calhoun, Jelle R. Dalenberg, Jeroen C.W. Siero, Remco J. Renken, Jeroen J. de Vries, Jacoba M. Spikman, Hubertus P.H. Kremer, Bauke M. De Jong
Publikováno v: NeuroImage. Clinical, 34:103023. ELSEVIER SCI LTD
Neuroimage. Clinical, 34. Elsevier B.V.
Spinocerebellar ataxia type 3 (SCA3) is a rare genetic neurodegenerative disease. The neurobiological basis of SCA3 is still poorly understood, and up until now resting-state fMRI (rs-fMRI) has not been used to study this disease. In the current stud
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41541b11f9c9cf9e426632dac138f7c1
https://research.rug.nl/en/publications/86d43628-1f50-46f7-94ee-66b81f859e01
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6
Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3
Autor: Roderick P.P.W.M. Maas, Steven Teerenstra, Manuela Lima, Paula Pires, Luís Pereira de Almeida, Judith van Gaalen, Dagmar Timmann, Jon Infante, Chiadi Onyike, Khalaf Bushara, Heike Jacobi, Kathrin Reetz, Magda M. Santana, Joana Afonso Ribeiro, Jeannette Hübener‐Schmid, Jeroen J. de Vries, Matthis Synofzik, Ludger Schöls, Hector Garcia‐Moreno, Paola Giunti, Jennifer Faber, Thomas Klockgether, Bart P.C. van de Warrenburg
Publikováno v: Movement disorders 37(9), 1850-1860 (2022). doi:10.1002/mds.29135
Mov Disord . 2022 Sep;37(9):1850-1860
Movement Disorders, 37, 9, pp. 1850-1860
Movement Disorders, 37(9), 1850-1860. Wiley
Movement Disorders, 37, 1850-1860
Movement disorders 37(9), 1850-1860 (2022). doi:10.1002/mds.29135
Published by Wiley, New York, NY
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1e30abfa6e57e80d609d542088721fc
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7
Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity
Autor: Matthis Synofzik, Khalaf Bushara, Hector Garcia-Moreno, Luís Pereira de Almeida, Magda M. Santana, Jon Infante, Patrick Silva, Jeannette Hübener-Schmid, Bart P.C. van de Warrenburg, Kathrin Reetz, Jennifer Faber, Heike Jacobi, Cristina Januário, Andreas Thieme, Ludger Schöls, Holger Hengel, Nita Solanky, Ana F. Ferreira, Jeremy D. Schmahmann, Paola Giunti, Manuela Lima, Peter Martus, Chiadi U. Onyike, Thomas Klockgether, Jeroen J de Vries
Publikováno v: Movement disorders 37(2), 405-410 (2022). doi:10.1002/mds.28844
Movement Disorders, 37, 405-410
Movement Disorders, 37(2), 405-410. Wiley
Movement Disorders, Vol. 37, No. 2, 2022
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Movement Disorders, 37, 2, pp. 405-410
Movement disorders 37(2), 405-410 (2022). doi:10.1002/mds.28844
Published by Wiley, New York, NY
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::909a4becb527c9823610491a2d178d3b
https://juser.fz-juelich.de/record/905218
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8
CAG Repeat Size Influences the Progression Rate of Spinocerebellar Ataxia Type 3
Autor: Eduardo Preusser de Mattos, Vanessa Bielefeldt Leotti, Ewout R. Brunt, Dineke S. Verbeek, Harm H. Kampinga, Laura Bannach Jardim, Camila Maria de Oliveira, Gerard J. te Meerman, Jeroen J de Vries
Publikováno v: Annals of Neurology, 66-73. Wiley
ISSUE=1;STARTPAGE=66;ENDPAGE=73;ISSN=0364-5134;TITLE=Annals of Neurology
Annals of Neurology, 89(1), 66. John Wiley and Sons Inc.
Objective In spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the expanded cytosine adenine guanine (CAG) repeat in ATXN3 is the causal mutation, and its length is the main factor in determining the age at onset (AO) of clinical sympt
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfd09c616cd955f07a1fad70fe821cdd
https://research.rug.nl/en/publications/48607cec-e4c9-479e-bfc3-437f3f6fcaa1
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10
How to detect late-onset inborn errors of metabolism in patients with movement disorders - A modern diagnostic approach
Autor: Fleur Vansenne, Lisette H. Koens, Tom J. de Koning, Jeroen J de Vries, Marina A. J. Tijssen
Publikováno v: Parkinsonismrelated disorders. 85
We propose a modern approach to assist clinicians to recognize and diagnose inborn errors of metabolism (IEMs) in adolescents and adults that present with a movement disorder. IEMs presenting in adults are still largely unexplored. These disorders re
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12761325002f6fd638b8b0ec6bb0cb6b
https://pubmed.ncbi.nlm.nih.gov/33745796
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