Associated Papers
An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.
Kurtovic-Kozaric A et al.
Orphanet Journal of Rare Diseases, 2024
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
Dehnavi AZ et al.
Orphanet Journal of Rare Diseases, 2023
The natural history of infantile neuroaxonal dystrophy.
Altuame FD et al.
Orphanet Journal of Rare Diseases, 2020
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Sun M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing.
Thiffault I et al.
Human Mutation, 2018
Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.
Schneider SA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy.
Yamamoto T et al.
Human Genome Variation, 2015
27081553 (PubMed )
Supplement: hgv201548-s2.xls › Table_S2
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
Sawyer SL et al.
Human Mutation, 2014
Neurodegeneration associated with genetic defects in phospholipase A(2).
Gregory A et al.
Neurology, 2008
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Morgan NV et al.
Nature Genetics, 2006
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