Zobrazeno 1 - 4
of 4
pro vyhledávání: '"João Tarrio"'
Autor:
Joana Fernandes, João Moura, João Tarrio, Jorge Oliveira, Ana Lopes, João Parente Freixo, Gonçalo Videira
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101157- (2024)
Background and objectives: Adult-onset leukodystrophies are a rare group of neurological disorders characterized by progressive degeneration of the cerebral white matter. One of these diseases is caused by biallelic pathogenic variants in the AARS2 g
Externí odkaz:
https://doaj.org/article/cd362a06e5ad41a985835ef96c6e351a
Autor:
Francisco Alves de Sousa, João Tarrio, André Sousa Machado, Joana Raquel Costa, Catarina Pinto, Ana Nóbrega Pinto, Bruno Moreira, Luís Meireles
Publikováno v:
ORL. :1-9
Introduction: To date, little is known about predisposing factors for persistent COVID-19-induced olfactory dysfunction (pCIOD). The objective was to determine whether olfactory cleft (OC) measurements associate with pCIOD risk. Material and Methods:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc83f6d4270cd87aa38c2b9ac0a33ce7
https://doi.org/10.1159/000527141
https://doi.org/10.1159/000527141
Publikováno v:
Pediatric radiology.
CLCN2-related leukoencephalopathy is a rare autosomal-recessive disease caused by a loss-of-function mutation in the ClC-2 chloride channel, which is fundamental in ion and water brain homeostasis. With only 31 cases published in the literature, its
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e428a1022f5a17e63ad0d53acfb21aaf
https://pubmed.ncbi.nlm.nih.gov/36565320
https://pubmed.ncbi.nlm.nih.gov/36565320
