Condition: Infantile Neuroaxonal Dystrophy


rs121908680 in BAIAP2L2;PLA2G6 gene and Infantile Neuroaxonal Dystrophy PMID 18799783 2008 Neurodegeneration associated with genetic defects in phospholipase A(2).

PMID 27378808 2016 Child Neurology: Two sisters with dystonia and regression: PLA2G6-associated neurodegeneration.

PMID 18359254 2008 Infantile neuroaxonal dystrophy: what's most important for the diagnosis?

PMID 16783378 2006 PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

PMID 24745848 2014 PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.

PMID 20886109 2010 Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism.

PMID 20619503 2012 Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations.

rs121908682 in PLA2G6 gene and Infantile Neuroaxonal Dystrophy PMID 16783378 2006 PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

PMID 17033970 2006 PLA2G6 mutation underlies infantile neuroaxonal dystrophy.

PMID 23749988 2013 Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.

PMID 20584031 2010 Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy.

PMID 19138334 2009 Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy.

PMID 25326637 2014 Clinical exome sequencing for genetic identification of rare Mendelian disorders.

PMID 22934738 2013 Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration.

PMID 20947703 2011 Random mutagenesis of the mouse genome: a strategy for discovering gene function and the molecular basis of disease.

PMID 19893029 2009 Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6.

PMID 24108619 2014 Exome sequencing as a diagnostic tool for pediatric-onset ataxia.

PMID 25164370 2015 Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.

PMID 28821231 2017 Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.

rs121908686 in PLA2G6;BAIAP2L2 gene and Infantile Neuroaxonal Dystrophy PMID 26196026 2015 PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review.

PMID 20669327 2010 Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.

PMID 27268037 2016 Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families.

PMID 26668131 2016 The patients with INAD had PLA2G6 mutations NM_003560.2: c.[950G>T];[426-1077dup] and c.[1799G>A];[2221C>T] and the patient with dystonia-parkinsonism had PLA2G6 mutations NM_003560.2: c.[609G>A];[2222G>A].

PMID 18570303 2009 Characterization of PLA2G6 as a locus for dystonia-parkinsonism.