Cargando…
Both Heterozygous and Homozygous Loss‐of‐Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder
Autores principales: | Steel, Dora, Vezyroglou, Aikaterini, Barwick, Katy, Smith, Martin, Vogt, Julie, Gibbon, Frances M., Cross, J. Helen, Kurian, Manju A. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092631/ https://www.ncbi.nlm.nih.gov/pubmed/36273396 http://dx.doi.org/10.1002/mds.29250 |
Ejemplares similares
-
STXBP1
Stop‐Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy
por: Spaull, Robert, et al.
Publicado: (2022) -
Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family
por: Kojovic, Maja, et al.
Publicado: (2012) -
Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure
por: Vanninen, Sari U. M., et al.
Publicado: (2018) -
Insights into the Transport Cycle of LAT1 and Interaction with the Inhibitor JPH203
por: Brunocilla, Chiara, et al.
Publicado: (2023) -
Ravulizumab for paroxysmal nocturnal haemoglobinuria
Publicado: (2022)