Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Jasper E. Visser"'
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
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
Publikováno v:
JOURNAL OF NEUROGENETICS, 36, 81-87
JOURNAL OF NEUROGENETICS, 36, 2-3, pp. 81-87
JOURNAL OF NEUROGENETICS, 36, 2-3, pp. 81-87
Item does not contain fulltext Lesch-Nyhan disease (LND) is a neurodevelopmental disorder caused by variants in the HPRT1 gene, which encodes the enzyme hypoxanthine-guanine phosphoribosyl transferase (HGprt). HGprt deficiency provokes numerous metab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcd9f85ee610ee2b9a51a707b8d79b7d
http://hdl.handle.net/2066/287485
http://hdl.handle.net/2066/287485
Autor:
Michael E. Zwick, Piyush Joshi, Fatemeh Seifar, Yan V. Sun, Joery den Hoed, Ashok Reddy Dinasarapu, Zhexing Wen, Jasper E. Visser, Irène Ceballos-Picot, Tejas Sardar, Diane J. Sutcliffe, Ellen J. Hess, H.A. Jinnah
Publikováno v:
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
Scientific Reports, 11, 1
Scientific Reports, 11
Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
Scientific Reports, 11, 1
Scientific Reports, 11
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 cell (iPSC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c89a5f69130423392350ac1d8ea8e1d0
https://hdl.handle.net/21.11116/0000-0008-55CC-321.11116/0000-0008-55CE-121.11116/0000-0008-55CF-0
https://hdl.handle.net/21.11116/0000-0008-55CC-321.11116/0000-0008-55CE-121.11116/0000-0008-55CF-0
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
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
http://hdl.handle.net/2066/238526
Autor:
Cornelius J. H. M. Klemann, L. Van Den Bosch, Jasper E. Visser, Geert Poelmans, Gerard J.M. Martens
Publikováno v:
Brain Pathology. 28:203-211
Amyotrophic lateral sclerosis (ALS) is a severe, progressive and ultimately fatal motor neuron disease caused by a combination of genetic and environmental factors, but its underlying mechanisms are largely unknown. To gain insight into the etiology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d19d81da8f1edc802dbe16de52fd7299
https://doi.org/10.1111/bpa.12485
https://doi.org/10.1111/bpa.12485
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
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
https://hdl.handle.net/2066/192477
Publikováno v:
Molecular Neurobiology, 53, 1625-1636
Molecular Neurobiology, 53, 3, pp. 1625-1636
Molecular Neurobiology
Molecular Neurobiology, 53, 3, pp. 1625-1636
Molecular Neurobiology
Parkinson’s disease (PD) is characterized by dopaminergic (DA) neuron death in the substantia nigra (SN) and subsequent striatal adaptations. Mice treated with the neurotoxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyrimidine (MPTP) are widely used as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98a2bf2fe08d351d91c36177fc62542a
https://doi.org/10.1007/s12035-015-9103-8
https://doi.org/10.1007/s12035-015-9103-8
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
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
https://hdl.handle.net/2066/175952
Autor:
Marla Gearing, Hong Pang, Hyder A. Jinnah, Diane J. Sutcliffe, Cecília N. Prudente, Martin Göttle, Jonathan D. Glass, Rong Fu, Jasper E. Visser, Emir Veledar, Deborah S. Cooper
Publikováno v:
Annals of Neurology. 76:95-107
Lesch–Nyhan disease (LND) is an inherited disorder with a characteristic neurobehavioral phenotype that includes a movement disorder dominated by generalized dystonia, intellectual disability, and recurrent self-injurious behavior.1–4 The disorde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dba7ff4cfe7406577641290091713c30
https://doi.org/10.1002/ana.24191
https://doi.org/10.1002/ana.24191