Megalencephalic leukoencephalopathy with cysts -the clinical importance in the genetic era

Autor: V, Ballesteros-Cogollos, M, Morell-García, M, Aleu Pérez-Gramunt, E, Montesinos-Sanchís, R, Mirón-Mombiela, J C, Martínez-Martínez, M, Tomás-Vila, F, Martínez-Castellano

Publikováno v: REVISTA DE NEUROLOGIA
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Megalencephalic leukoencephalopathy with cysts is a leukodystrophy of genetic origin that produces an alteration in the water and ion homeostasis in the brain, generating vacuolar forms and chronic oedema in the white matter with progressive neurolog

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::db902e56b6eeca9c88299b30f1054652
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=13115

Leucoencefalopatía megalencefálica con quistes: importancia de la descripción clínica en la era genética

Autor: J C Martínez-Martínez, M Morell-García, R Mirón-Mombiela, E Montesinos-Sanchís, M. Tomas-Vila, M Aleu Pérez-Gramunt, V Ballesteros-Cogollos, F Martínez-Castellano

Publikováno v: Revista de Neurología. 71:373

Introduction Megalencephalic leukoencephalopathy with cysts is a leukodystrophy of genetic origin that produces an alteration in the water and ion homeostasis in the brain, generating vacuolar forms and chronic oedema in the white matter with progres

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9aecd1410926b281af6768d0b367c38f
https://doi.org/10.33588/rn.7110.2020520

Afectación neurológica precoz en pacientes con incontinencia pigmenti

Autor: L. Regueras Santos, L. Castañón López, F. Martínez Castellano, D. Mata Zubillaga, R. Morales Sánchez

Publikováno v: Anales de Pediatría, Vol 71, Iss 6, Pp 576-578 (2009)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b99ddfd8fafe19e98074ecd70a6e049
https://doi.org/10.1016/j.anpedi.2009.07.032

[ARX mutations and mental retardation of unknown etiology: three new cases in Spain]

Autor: M T, Romero-Rubio, M, Andrés-Celma, M L, Castelló-Pomares, M, Roselló, I, Ferrer-Bolufer, F, Martínez-Castellano

Publikováno v: Revista de neurologia. 47(12)

Mental retardation has an approximated prevalence of 2% in the general population and its most frequent cause is X-fragile syndrome. This genetic disorder predominantly affects males and it is mainly caused by the expansion of CGG in FMR1 gene. Recen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9ccf4561e6a908400eced657cec7bbd2
https://pubmed.ncbi.nlm.nih.gov/19434596

[Non-specific X-linked mental retardation]

Autor: F, Martínez-Castellano

Publikováno v: Revista de neurologia. 42

Non-specific mental retardation is defined by the absence of somatic, neurological, biochemical or behavioural features that characterise a particular clinical variant and accounts for a large percentage of cases of X-linked mental retardation (XLMR)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0d3c874a1b4b356c522e325d1fbb168f
https://pubmed.ncbi.nlm.nih.gov/16506138