Il sistema universitario olandese, tra 'polder' e mercato

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dris___00893::ed82565fad79f1e90a61e884c2487d1c

Il sistema universitario olandese, tra polder e mercato

Autor: Marin, L, Palermo, F.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::da0bb18ca3761d9f53f4e4aacc18650e
http://hdl.handle.net/11562/337313

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation

Autor: Hamilton, Em, Polder, E, Vanderver, A, Naidu, S, Schiffmann, R, Fisher, K, Raguz, Ab, Blumkin, L, H-ABC Research Group, Battini, R, Van Berkel CG, Waisfisz, Q, Simons, C, Taft, Rj, Abbink, Te, Wolf, Ni, Van Der Knaap MS

Publikováno v: Brain, 137, 1921-1930. Oxford University Press
Hamilton, E M C, Polder, E, Vanderver, A, Naidu, S, Schiffmann, R, Fisher, K, Raguz, A B, Blumkin, L, van Berkel, C G M, Waisfisz, Q, Simons, C, Taft, R J, Abbink, G E M, Wolf, N I & van der Knaap, M S 2014, ' Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation ', Brain, vol. 137, pp. 1921-1930 . https://doi.org/10.1093/brain/awu110

Hypomyelination with atrophy of the basal ganglia and cerebellum is a rare leukoencephalopathy that was identified using magnetic resonance imaging in 2002. In 2013, whole exome sequencing of 11 patients with the disease revealed that they all had th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bef6647507c694811c8414282d539971
https://europepmc.org/articles/PMC4345790/

Vanishing white matter: deregulated integrated stress response as therapy target.

Autor: Abbink TEM; Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands., Wisse LE; Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands., Jaku E; Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands., Thiecke MJ; Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands., Voltolini-González D; Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands., Fritsen H; Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands., Bobeldijk S; Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands., Ter Braak TJ; Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands., Polder E; Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands., Postma NL; Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands., Bugiani M; Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands.; Department of Pathology, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands., Struijs EA; Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands., Verheijen M; Department of Molecular and Cellular Neurobiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands., Straat N; Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands., van der Sluis S; Complex Trait Genetics, Department of Clinical Genetics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands., Thomas AAM; Developmental Biology, Utrecht University, Utrecht, The Netherlands., Molenaar D; Systems Bioinformatics, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands., van der Knaap MS; Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands.; Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands.

Publikováno v: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2019 Aug; Vol. 6 (8), pp. 1407-1422. Date of Electronic Publication: 2019 Jul 18.

Human post-mortem organotypic brain slice cultures: a tool to study pathomechanisms and test therapies.

Autor: Plug, Bonnie C.^1,2 (AUTHOR), Revers, Ilma M.^1,2 (AUTHOR), Breur, Marjolein^1,2 (AUTHOR), González, Gema Muñoz³ (AUTHOR), Timmerman, Jaap A.⁴ (AUTHOR), Meijns, Niels R.C.³ (AUTHOR), Hamberg, Daniek^1,2 (AUTHOR), Wagendorp, Jikke^1,2 (AUTHOR), Nutma, Erik⁵ (AUTHOR), Wolf, Nicole I.^1,2 (AUTHOR), Luchicchi, Antonio³ (AUTHOR), Mansvelder, Huibert D.⁴ (AUTHOR), van Til, Niek P.^1,2,4 (AUTHOR), van der Knaap, Marjo S.^1,2,4 (AUTHOR), Bugiani, Marianna^1,2,5 (AUTHOR) m.bugiani@amsterdamumc.nl

Publikováno v: Acta Neuropathologica Communications. 5/31/2024, Vol. 12 Issue 1, p1-17. 17p.