Cargando…
Correction: Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases
Autores principales: | Pierson, Tyler Mark, Adams, David, Bonn, Florian, Martinelli, Paola, Cherukuri, Praveen F., Teer, Jamie K., Hansen, Nancy F., Cruz, Pedro, Mullikin, James C., Blakesley, Robert W., Golas, Gretchen, Kwan, Justin, Sandler, Anthony, Fuentes Fajardo, Karin, Markello, Thomas, Tifft, Cynthia, Blackstone, Craig, Rugarli, Elena I., Langer, Thomas, Gahl, William A., Toro, Camilo |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3586582/ http://dx.doi.org/10.1371/annotation/273d7d98-3a1b-494b-839e-de31a0f33d28 |
Ejemplares similares
-
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases
por: Pierson, Tyler Mark, et al.
Publicado: (2011) -
Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease
por: Sacco, Tiziana, et al.
Publicado: (2010) -
GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine
por: Pierson, Tyler Mark, et al.
Publicado: (2014) -
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
por: Charif, Majida, et al.
Publicado: (2020) -
Loss of Mitochondrial AAA Proteases AFG3L2 and YME1L Impairs Mitochondrial Structure and Respiratory Chain Biogenesis
por: Cesnekova, Jana, et al.
Publicado: (2018)