Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective-Reference-Cited by-同舟云学术

Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective

Published:2018-01 Issue:1 Volume:61 Page:50-60
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Estévez Raúl^ORCID,Elorza-Vidal Xabier,Gaitán-Peñas Héctor,Pérez-Rius Carla,Armand-Ugón Mercedes,Alonso-Gardón Marta,Xicoy-Espaulella Efren,Sirisi Sònia,Arnedo Tanit,Capdevila-Nortes Xavier,López-Hernández Tania,Montolio Marisol,Duarri Anna^ORCID,Teijido Oscar,Barrallo-Gimeno Alejandro^ORCID,Palacín Manuel,Nunes Virginia^ORCID

Funder

European Leukodystrophies Association (ELA) Research Foundation

Ministerio de Ciencia e Innovación

Generalitat de Catalunya

Instituto de Salud Carlos III (bodies linked to MICINN and FEDER): (ERARE)

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference104 articles.

1. Biochemical characterization of MLC1 protein in astrocytes and its association with the dystrophin-glycoprotein complex;Ambrosini;Mol. Cell Neurosci.,2008

2. Delayed K+ clearance associated with aquaporin-4 mislocalization: phenotypic defects in brains of alpha-syntrophin-null mice;Amiry-Moghaddam;Proc. Natl. Acad. Sci. U. S. A.,2003

3. Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations;Arnedo;Neurogenetics,2013

4. Functional analyses of mutations in HEPACAM causing megalencephalic leukoencephalopathy;Arnedo;Hum. Mutat.,2014

5. GlialCAM, a glial cell adhesion molecule implicated in neurological disease;Barrallo-Gimeno;Adv. Neurobiol.,2014

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