Induced pluripotent stem cells from subjects with Lesch-Nyhan disease

Autor: Diane J. Sutcliffe, Ashok R. Dinasarapu, Jasper E. Visser, Joery den Hoed, Fatemeh Seifar, Piyush Joshi, Irene Ceballos-Picot, Tejas Sardar, Ellen J. Hess, Yan V. Sun, Zhexing Wen, Michael E. Zwick, H. A. Jinnah

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)

Abstract Lesch-Nyhan disease (LND) is an inherited disorder caused by pathogenic variants in the HPRT1 gene, which encodes the purine recycling enzyme hypoxanthine–guanine phosphoribosyltransferase (HGprt). We generated 6 induced pluripotent stem c

Externí odkaz: https://doaj.org/article/957b5bb790da4d86aa190f7843f35d1e

Role of the Basal Ganglia in Balance Control

Autor: Jasper E. Visser, Bastiaan R. Bloem

Publikováno v: Neural Plasticity, Vol 12, Iss 2-3, Pp 161-174 (2005)

In this review paper, we summarize the important contributions of the basal ganglia to the regulation of postural control. After a brief overview of basal ganglia circuitries, the emphasis is on clinical observations in patients with focal lesions in

Externí odkaz: https://doaj.org/article/c2b037dac5e444e8949384c26f871355

Deep brain stimulation in Lesch-Nyhan disease: outcomes from the patient's perspective

Autor: Gastón Schechtmann, Kristina Tedroff, David J. Schretlen, Hyder A. Jinnah, Jocelyne Bloch, Adam C. Cotton, Diana Djurfeldt, Jasper E. Visser, Laura Cif, Victoria Gonzalez

Publikováno v: Developmental Medicine & Child Neurology, 63, 963-968
Developmental medicine and child neurology, vol. 63, no. 8, pp. 963-968
Developmental medicine and child neurology
Developmental Medicine & Child Neurology, 63, 8, pp. 963-968

Contains fulltext : 238526.pdf (Publisher’s version ) (Open Access) AIM: To provide insight into outcome and long-term safety and efficacy of deep brain stimulation (DBS), from the perspective of individuals with Lesch-Nyhan disease (LND) and their

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e94613a1d5631f81630f72f6d1b72c8
http://hdl.handle.net/2066/238526

Physical Exercise Modulates L-DOPA-Regulated Molecular Pathways in the MPTP Mouse Model of Parkinson's Disease

Autor: Jasper E. Visser, Helena Xicoy, Gerard J.M. Martens, Geert Poelmans, Cornelius J. H. M. Klemann, Bas R. Bloem

Publikováno v: Molecular Neurobiology, 55, 7, pp. 5639-5657
Molecular Neurobiology, 55, 5639-5657

Parkinson's disease (PD) is characterized by the degeneration of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNpc), resulting in motor and non-motor dysfunction. Physical exercise improves these symptoms in PD patients. To explor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0149184c86217d7174f15816cba52310
https://hdl.handle.net/2066/192477

Integrated molecular landscape of Parkinson's disease

Autor: Ole Isacson, Marijn B. Martens, Manu Sharma, Gerard J.M. Martens, Jasper E. Visser, Thomas Gasser, Cornelius J. H. M. Klemann, Geert Poelmans

Publikováno v: NPJ Parkinson's Disease, 3, pp. 14-14
npj Parkinson's Disease 3(1), 14 (2017). doi:10.1038/s41531-017-0015-3
NPJ Parkinson's Disease
npj Parkinson's Disease, Vol 3, Iss 1, Pp 1-7 (2017)
NPJ Parkinson's Disease, 3, 14-14

Parkinson’s disease is caused by a complex interplay of genetic and environmental factors. Although a number of independent molecular pathways and processes have been associated with familial Parkinson’s disease, a common mechanism underlying esp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b97dad5954807d25ed65a03f52a961e7
https://hdl.handle.net/2066/175952