Extensive aggregation of α-synuclein and tau in juvenile-onset neuroaxonal dystrophy: an autopsied individual with a novel mutation in the PLA2G6 gene-splicing site

Neuroaxonal Dystrophy in Calcium-Independent Phospholipase A2  Deficiency Results from Insufficient Remodeling and Degeneration of Mitochondrial and Presynaptic Membranes

(2011) G. Beck et al.   JOURNAL OF NEUROSCIENCE

Novel splice-site mutations and a large intragenic deletion inPLA2G6associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy

(2010) A Tonelli et al.   CLINICAL GENETICS

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

(2010) Coro Paisán-Ruiz et al.   NEUROBIOLOGY OF AGING

Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism

(2010) H. Yoshino et al.   NEUROLOGY

Establishment of an Improved Mouse Model for Infantile Neuroaxonal Dystrophy That Shows Early Disease Onset and Bears a Point Mutation in Pla2g6

(2009) Haruka Wada et al.   AMERICAN JOURNAL OF PATHOLOGY

Disrupted Membrane Homeostasis and Accumulation of Ubiquitinated Proteins in a Mouse Model of Infantile Neuroaxonal Dystrophy Caused by PLA2G6 Mutations

(2008) Ibrahim Malik et al.   AMERICAN JOURNAL OF PATHOLOGY

Patients Homozygous and Heterozygous for SNCA Duplication in a Family With Parkinsonism and Dementia

(2008) Takeshi Ikeuchi et al.   ARCHIVES OF NEUROLOGY

Clinical study andPLA2G6mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy

(2008) Y. Wu et al.   EUROPEAN JOURNAL OF NEUROLOGY

Neuroaxonal Dystrophy Caused by Group VIA Phospholipase A2 Deficiency in Mice: A Model of Human Neurodegenerative Disease

(2008) K. Shinzawa et al.   JOURNAL OF NEUROSCIENCE

Neurodegeneration associated with genetic defects in phospholipase A2

(2008) A. Gregory et al.   NEUROLOGY