Accès ouvert
2024
article
OpenAlex
Irene Mademont‐Soler, Susanna Esteba‐Castillo, Aida Jiménez‐Xifra, Berta Alemany et autres
BACKGROUND: Spastic paraplegia 11 (SPG11) is the most prevalent form of autosomal recessive hereditary spastic paraplegia, resulting from biallelic pathogenic variants in the SPG11 gene (MIM *610844). METHODS: The proband is a 36-year-old female referred for genetic evaluation due to cognitive dysfunction, …
es
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2022
article
OpenAlex
Dolors Casellas‐Vidal, Irene Mademont‐Soler, Joana Sánchez, Alberto Plaja et autres
The phenotypic repercussion of ZDHHC15 haploinsufficiency is not well-known. This gene was initially suggested as a candidate for X-linked mental retardation, but such an association was later questioned. We studied a multiplex family with three members with autism spectrum disorder (ASD) by …
es
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2020
article
OpenAlex
Irene Mademont‐Soler, Dolors Casellas‐Vidal, Alberto Trujillo, Núria Espuña‐Capote et autres
GLYT1 encephalopathy is a form of glycine encephalopathy caused by disturbance of glycine transport. The phenotypic spectrum of the disease has not yet been completely described, as only four unrelated families with the disorder have been reported to date. Common features of …
es
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