Childhood disorders of neurodegeneration with brain iron accumulation (NBIA)

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

(2010) Michael C. Kruer et al.   ANNALS OF NEUROLOGY

Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation

(2010) L. Timmermann et al.   BRAIN

Cognitive functioning in children with pantothenate-kinase-associated neurodegeneration undergoing deep brain stimulation

(2010) RACHEL MAHONEY et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)

(2010) Katherine J. Dick et al.   HUMAN MUTATION

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis

(2010) Danielle Crompton et al.   MOLECULAR GENETICS AND METABOLISM

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

(2010) Susanne A. Schneider et al.   MOVEMENT DISORDERS

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

Dystonia-parkinsonism disease gene discovery: Expect surprises

(2009) Susan J. Hayflick   ANNALS OF NEUROLOGY

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

(2008) Simon Edvardson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Pallidal stimulation for pantothenate kinase-associated neurodegeneration dystonia

(2008) C Isaac et al.   ARCHIVES OF DISEASE IN CHILDHOOD

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

The Neurological Presentation of Ceruloplasmin Gene Mutations

(2008) Alisdair McNeill et al.   EUROPEAN 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