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

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

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

(2008) Coro Paisan-Ruiz et al.   ANNALS OF NEUROLOGY

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

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

R632W mutation inPLA2G6segregates with dystonia-parkinsonism in a consanguineous Iranian family

(2008) F. Sina et al.   EUROPEAN JOURNAL OF NEUROLOGY

Infantile neuroaxonal dystrophy: What's most important for the diagnosis?

(2008) Inês Carrilho et al.   EUROPEAN JOURNAL OF PAEDIATRIC 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

T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation

(2008) A. McNeill et al.   NEUROLOGY

Neurodegeneration associated with genetic defects in phospholipase A2

(2008) A. Gregory et al.   NEUROLOGY

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)

(2008) M. A. Kurian et al.   NEUROLOGY