Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit

Sleep Medicine & Life Sciences
Brain Medicine & Life Sciences
Parkinson Disease Medicine & Life Sciences
Stroke Medicine & Life Sciences
Neurons Medicine & Life Sciences
Amyotrophic Lateral Sclerosis Medicine & Life Sciences
Mutation Medicine & Life Sciences
Primary Progressive Aphasia Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Profiles

No photo of Sabra Margaret Abbott
20032018
No photo of Senda Ajroud-Driss

Senda Ajroud-Driss

Person: Academic

19982018
No photo of Angel A Alvarez

Angel A Alvarez

Person: Academic

20062018

Research Output 1964 2018

Acid ceramidase inhibition ameliorates α-synuclein accumulation upon loss of GBA1 function

Kim, M. J., Jeon, S., Burbulla, L. F. & Krainc, D. Jun 1 2018 In : Human molecular genetics. 27, 11, p. 1972-1988 17 p.

Research output: Contribution to journalArticle

Acid Ceramidase
alpha-Synuclein
Ceramides
Glucosylceramidase
Parkinson Disease

A Community-Partnered Approach to Inform a Culturally Relevant Health Promotion Intervention for Stroke

Eisenstein, A. R., Song, S., Mason, M., Kandula, N. R., Richards, C., Aggarwal, N. T. & Prabhakaran, S. K. Jan 1 2018 (Accepted/In press) In : Health Education and Behavior.

Research output: Contribution to journalArticle

Health Promotion
Stroke
Focus Groups
Education
Vulnerable Populations

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Jansen, S. , Hoischen, A. , Coe, B. P. , Carvill, G. L. , Van Esch, H. , Bosch, D. G. M. , Andersen, U. A. , Baker, C. , Bauters, M. , Bernier, R. A. , Van Bon, B. W. , Claahsen-Van Der Grinten, H. L. , Gecz, J. , Gilissen, C. , Grillo, L. , Hackett, A. , Kleefstra, T. , Koolen, D. , Kvarnung, M. , Larsen, M. J. & 21 others Marcelis, C., McKenzie, F., Monin, M. L., Nava, C., Schuurs-Hoeijmakers, J. H., Pfundt, R., Steehouwer, M., Stevens, S. J. C., Stumpel, C. T., Vansenne, F., Vinci, M., Van De Vorst, M., Vries, P. D., Witherspoon, K., Veltman, J. A., Brunner, H. G., Mefford, H. C., Romano, C., Vissers, L. E. L. M., Eichler, E. E. & De Vries, B. B. A. Jan 1 2018 In : European Journal of Human Genetics. 26, 1, p. 54-63 10 p.

Research output: Contribution to journalArticle

Haploinsufficiency
Intellectual Disability
Genotype
Phenotype
Medical Genetics