Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM24_ESM.xlsx › Sheet1
The natural history of infantile neuroaxonal dystrophy.
Altuame FD et al.
Orphanet Journal of Rare Diseases, 2020
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.
Kapoor S et al.
Plos One, 2016
27196560 (PubMed )
Supplement: pone.0155605.s001.pdf
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
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