The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1

Autor: Sánchez-Lijarcio O, Yubero-Siles D, Leal F, Couce ML, González Gutiérrez-Solana L, López-Laso E, Garcia-Cazorla A, Pias-Peleteiro LD, de Azua Brea B, Ibáñez-Micó S, Mateo-Martínez G, Troncoso-Schifferli M, Witting-Enriquez S, Ugarte M, Artuch-Iriberri R, Pérez-Dueñas B

Publikováno v: CLINICAL GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1) leading to defective glucose transport across the blood-brain barrier. This work descri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::6e22da944f17137f9fd604b39dd4c69f
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21389

Childhood-Onset Chorea Caused by a Recurrent De Novo DRD2 Variant

Autor: Mencacci, N.E. Steel, D. Magrinelli, F. Hsu, J. Keller Sarmiento, I.J. Troncoso Schifferli, M. Muñoz, D. Stefanis, L. Lubbe, S.J. Wood, N.W. Kurian, M.A. Stamelou, M.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::cda411468e2083255754253fb1242fc6
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997128

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Inferring Viral Transmission Pathways from Within-Host Variation.

Autor: Specht IOA; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Harvard College, Faculty of Arts and Sciences, Harvard University, Cambridge, MA 02138, USA., Petros BA; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Harvard-MIT Program in Health Sciences and Technology, Cambridge, MA 02139, USA.; Harvard/MIT MD-PhD Program, Boston, MA 02115, USA.; Systems, Synthetic, and Quantitative Biology PhD Program, Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA., Moreno GK; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Brock-Fisher T; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Department of Organismic and Evolutionary Biology, Faculty of Arts and Sciences, Harvard University, Cambridge, MA 02138, USA., Krasilnikova LA; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA., Schifferli M; Fathom Information Design, Boston, MA 02114, USA., Yang K; Fathom Information Design, Boston, MA 02114, USA., Cronan P; Fathom Information Design, Boston, MA 02114, USA., Glennon O; Fathom Information Design, Boston, MA 02114, USA., Schaffner SF; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Park DJ; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., MacInnis BL; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Department of Immunology and Infectious Diseases, Harvard T.H. Chan School of Public Health, Harvard University, Boston, MA 02115, USA.; Massachusetts Consortium on Pathogen Readiness, Harvard Medical School, Harvard University, Boston, MA 02115, USA., Ozonoff A; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Fry B; Fathom Information Design, Boston, MA 02114, USA., Mitzenmacher MD; Department of Computer Science, School of Engineering and Applied Sciences, Harvard University, Cambridge, MA 02138, USA., Varilly P; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Sabeti PC; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Department of Organismic and Evolutionary Biology, Faculty of Arts and Sciences, Harvard University, Cambridge, MA 02138, USA.; Department of Immunology and Infectious Diseases, Harvard T.H. Chan School of Public Health, Harvard University, Boston, MA 02115, USA.; Massachusetts Consortium on Pathogen Readiness, Harvard Medical School, Harvard University, Boston, MA 02115, USA.; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Oct 15. Date of Electronic Publication: 2023 Oct 15.