Cargando…
Spastic Paraplegia and Cognitive Impairment Due to a De Novo Pathogenic Variant in Presenilin‐1
Autores principales: | Muñoz, Esteban, Jodar, Meritxell, Guerrero, Jairo, Compta, Yaroslau, Perissinotti, Andrés, Álvarez‐Mora, Maria I., Falgàs, Neus, Rodríguez‐Revenga, Laia, Sánchez‐Valle, Raquel |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9847302/ https://www.ncbi.nlm.nih.gov/pubmed/36699002 http://dx.doi.org/10.1002/mdc3.13588 |
Ejemplares similares
-
Spastic Paraplegia Type 30 Associated with Levodopa‐Responsive Parkinsonism
por: Gallagher, Amy, et al.
Publicado: (2023) -
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
por: Blanchard, Maxime G, et al.
Publicado: (2015) -
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
por: Lopes, Luis R, et al.
Publicado: (2013) -
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS
por: McDonald-McGinn, Donna M, et al.
Publicado: (2013) -
The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy
por: Liu, Zhong, et al.
Publicado: (2014)