Cargando…
Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families
Autores principales: | Kocoglu, Cemile, Gundogdu, Asli, Kocaman, Gulsen, Kahraman-Koytak, Pinar, Uluc, Kayihan, Kiziltan, Gunes, Caglayan, Ahmet Okay, Bilguvar, Kaya, Vural, Atay, Basak, A. Nazli |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773845/ https://www.ncbi.nlm.nih.gov/pubmed/29379883 http://dx.doi.org/10.1212/NXG.0000000000000218 |
Ejemplares similares
-
Motor-Unit Number Estimation Is Sensitive in Detecting Motor Nerve Involvement in Patients with Carpal Tunnel Syndrome
por: Yilmaz, Orhan, et al.
Publicado: (2016) -
Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review
por: Peng, Fang, et al.
Publicado: (2019) -
A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia
por: Chen, You, et al.
Publicado: (2019) -
CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76
por: Garcia-Berlanga, Jesus Eduardo, et al.
Publicado: (2019) -
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
por: Méreaux, Jean-Loup, et al.
Publicado: (2021)