Report from the Edge of Neuroscience: Investigating an RNA Polymerase III related leukodystrophy using patient-derived iPSCs, neural cells, and mini-brains

Autor: Holmes, D.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::49d32cc548e312b89d62a20dff95b585
https://research.vu.nl/en/publications/d917fc97-22c2-4b52-b2d4-185106a9abcf

Report from the Edge of Neuroscience:Investigating an RNA Polymerase III related leukodystrophy using patient-derived iPSCs, neural cells, and mini-brains

Autor: Holmes, D.B.

Publikováno v: Holmes, D 2018, ' Report from the Edge of Neuroscience : Investigating an RNA Polymerase III related leukodystrophy using patient-derived iPSCs, neural cells, and mini-brains ', Doctor of Philosophy, Vrije Universiteit Amsterdam .
Holmes, D B 2018, ' Report from the Edge of Neuroscience : Investigating an RNA Polymerase III related leukodystrophy using patient-derived iPSCs, neural cells, and mini-brains ', PhD, Vrije Universiteit Amsterdam .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::361f79831f006da8b449e47ab9a0e0b0
https://research.vumc.nl/en/publications/d67f0589-9b36-4c6a-ad50-828a4b201143

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

Autor: Gutierrez, Mariana, Thiffault, Isabelle, Guerrero, Kether, Martos-Moreno, Gabriel Á, Tran, Luan T, Benko, William, van der Knaap, Marjo S, van Spaendonk, Rosalina M L, Wolf, Nicole I, Bernard, Geneviève

Publikováno v: Orphanet Journal of Rare Diseases, 10:69. BioMed Central
Gutierrez, M, Thiffault, I, Guerrero, K, Martos-Moreno, G A, Tran, L T, Benko, W, Knaap, M, van Spaendonk, R M L, Wolf, N I & Bernard, G 2015, ' Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy ', Orphanet Journal of Rare Diseases, vol. 10, 69 . https://doi.org/10.1186/s13023-015-0279-9
Gutierrez, M, Thiffault, I, Guerrero, K, Martos-Moreno, G A, Tran, L T, Benko, W, Knaap, M, van Spaendonk, R M L, Wolf, N I & Bernard, G 2015, ' Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy ', Orphanet journal of rare diseases, vol. 10, 69 . https://doi.org/10.1186/s13023-015-0279-9
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 10. BioMed Central
Orphanet journal of rare diseases, 10:69. BioMed Central
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

POLR3-related (or 4H) leukodystrophy is an autosomal recessive disorder caused by mutations in POLR3A or POLR3B and is characterized by neurological and non-neurological features. In a small proportion of patients, no mutation in either gene or only

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f4a882163ede02c11153c1bcb2f2c19f
https://research.vumc.nl/en/publications/d79a3923-45df-4063-8fda-aecd9e7aaf78