Associated Papers
The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion.
Schuettpelz J et al.
Life Science Alliance, 2023
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Insights into the genotype-phenotype correlation and molecular function of SLC25A46.
Abrams AJ et al.
Human Mutation, 2018
Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.
Braunisch MC et al.
Clinical Genetics, 2018
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.
Hammer MB et al.
Neuro-degenerative Diseases, 2017
SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy.
Charlesworth G et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2016
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