Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Bart P, van de Warrenburg"'
Autor:
Nienke J.H. van Os, Mayke Oosterloo, Janneke P.C. Grutters, Brigitte A.B. Essers, Bart P.C. van de Warrenburg
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background Although genetic interventions are on the horizon for some polyglutamine expansion diseases, such as subtypes of spinocerebellar ataxia (SCA) and Huntington’s disease (HD), the patients’ preferences regarding these new therapi
Externí odkaz:
https://doaj.org/article/f9fdc0429758438588a7708e8923affc
Autor:
Linde F. Bouwman, Milou E.M. Joosen, Ronald A.M. Buijsen, Linda M. van der Graaf, Barry A. Pepers, Bas J.B. Voesenek, Erwin Brosens, Bart P.C. van de Warrenburg, Willeke M.C. van Roon-Mom
Publikováno v:
Stem Cell Research, Vol 78, Iss , Pp 103462- (2024)
Spinocerebellar Ataxia Type 7 (SCA7) is an autosomal dominantly inherited disorder, primarily characterized by cerebellar ataxia and visual loss. SCA7 is caused by a CAG repeat expansion in exon 3 of the ATXN7 gene. We generated human induced pluripo
Externí odkaz:
https://doaj.org/article/86fe66bc57d249828c2aae4cc8264041
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
Publikováno v:
EBioMedicine, Vol 100, Iss , Pp 104994- (2024)
Externí odkaz:
https://doaj.org/article/121012618f2545fba8c4777735d98672
Autor:
Roderick P.P.W.M. Maas, Dennis J.L.G. Schutter, Ivan Toni, Dagmar Timmann, Bart P.C. van de Warrenburg
Publikováno v:
Brain Stimulation, Vol 15, Iss 3, Pp 806-813 (2022)
Background: Delay eyeblink conditioning is an extensively studied motor learning paradigm that critically depends on the integrity of the cerebellum. In healthy individuals, modulation of cerebellar excitability using transcranial direct current stim
Externí odkaz:
https://doaj.org/article/5a18dbd46df947008fdd8ff1b10588ea
Publikováno v:
Brain Stimulation, Vol 14, Iss 2, Pp 351-357 (2021)
Background: Cerebellar ataxia generally results from a lesion disrupting the corticopontocerebellar or cerebellothalamocortical tract. The cerebellar inhibition (CBI) paradigm represents a dual-coil transcranial magnetic stimulation protocol that int
Externí odkaz:
https://doaj.org/article/b145e6e08f32493b94e22544fa7b3d4d
Autor:
Marina P. Hommersom, Chantal Bijnagte-Schoenmaker, Silvia Albert, Bart P.C. van de Warrenburg, Nael Nadif Kasri, Hans van Bokhoven
Publikováno v:
Stem Cell Research, Vol 61, Iss , Pp 102730- (2022)
CACNA1A encodes a P/Q-type voltage-gated calcium channel. Heterozygous loss-of-function variants in this gene have been associated with episodic ataxia type 2. In this study, we used CRISPR/Cas9 to generate isogenic human induced pluripotent stem cel
Externí odkaz:
https://doaj.org/article/991103de1b1a4ac192016a198332ae2d
Autor:
Freek Nieuwhof, Ivan Toni, Michiel F. Dirkx, Cecile Gallea, Marie Vidailhet, Arthur W.G. Buijink, Anne-Fleur van Rootselaar, Bart P.C. van de Warrenburg, Rick C. Helmich
Publikováno v:
NeuroImage: Clinical, Vol 33, Iss , Pp 102919- (2022)
Dystonic tremor syndromes are highly burdensome and treatment is often inadequate. This is partly due to poor understanding of the underlying pathophysiology. Several lines of research suggest involvement of the cerebello-thalamo-cortical circuit and
Externí odkaz:
https://doaj.org/article/2d905d787c9e406dacfdc3267af21864
Publikováno v:
Brain Stimulation, Vol 14, Iss 2, Pp 284-286 (2021)
Externí odkaz:
https://doaj.org/article/a1ad3c25acd2465fa07e3144213cf81e
Autor:
Bas J.H. van Lith, Jasper den Boer, Bart P.C. van de Warrenburg, Vivian Weerdesteyn, Alexander C. Geurts
Publikováno v:
Journal of Rehabilitation Medicine, Vol 51, Iss 6, Pp 434-441 (2019)
Objective: To investigate the functional effects of bilateral botulinum toxin A treatment and subsequent stretching of spastic hip adductors on gait and reactive lateral stepping responses in patients with pure hereditary spastic paraplegia. Design:
Externí odkaz:
https://doaj.org/article/6de8420791c14430b6de5db80e455e92