Related references
Note: Only part of the references are listed.Cognitive functioning in children with pantothenate-kinase-associated neurodegeneration undergoing deep brain stimulation
Rachel Mahoney et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2011)
Defective FA2H Leads to a Novel Form of Neurodegeneration with Brain Iron Accumulation (NBIA)
Michael C. Kruer et al.
ANNALS OF NEUROLOGY (2010)
Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation
L. Timmermann et al.
BRAIN (2010)
Mutation of FA2H Underlies a Complicated Form of Hereditary Spastic Paraplegia (SPG35)
Katherine J. Dick et al.
HUMAN MUTATION (2010)
Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis
Danielle Crompton et al.
MOLECULAR GENETICS AND METABOLISM (2010)
ATP13A2 Mutations (PARK9) Cause Neurodegeneration with Brain Iron Accumulation
Susanne A. Schneider et al.
MOVEMENT DISORDERS (2010)
Establishment of an Improved Mouse Model for Infantile Neuroaxonal Dystrophy That Shows Early Disease Onset and Bears a Point Mutation in Pla296
Haruka Wada et al.
AMERICAN JOURNAL OF PATHOLOGY (2009)
Characterization of PLA2G6 as a Locus for Dystonia-Parkinsonism
Coro Paisan-Ruiz et al.
ANNALS OF NEUROLOGY (2009)
Dystonia-Parkinsonism Disease Gene Discovery: Expect Surprises
Susan J. Hayflick
ANNALS OF NEUROLOGY (2009)
Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy
Y. Wu et al.
EUROPEAN JOURNAL OF NEUROLOGY (2009)
R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family
F. Sina et al.
EUROPEAN JOURNAL OF NEUROLOGY (2009)
Clinical and genetic delineation of neurodegeneration with brain iron accumulation
A. Gregory et al.
JOURNAL OF MEDICAL GENETICS (2009)
Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia
Simon Edvardson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations
Ibrahim Malik et al.
AMERICAN JOURNAL OF PATHOLOGY (2008)
Pallidal stimulation for pantothenate kinase-associated neurodegeneration dystonia
C. Isaac et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2008)
Infantile neuroaxonal dystrophy: What's most important for the diagnosis?
Ines Carrilho et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2008)
The neurological presentation of ceruloplasmin gene mutations
Alisdair McNeill et al.
EUROPEAN NEUROLOGY (2008)
Neuroaxonal dystrophy caused by group VIA phospholipase A2 deficiency in mice:: A model of human neurodegenerative disease
Koei Shinzawa et al.
JOURNAL OF NEUROSCIENCE (2008)
T2*and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation
A. McNeill et al.
NEUROLOGY (2008)
Neurodegeneration associated with genetic defects in phospholipase A2
A. Gregory et al.
NEUROLOGY (2008)
Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)
M. A. Kurian et al.
NEUROLOGY (2008)
Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration
Y. M. Kuo et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration
K. Freeman et al.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH (2007)
Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation
Roberta Biancheri et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2007)
Correlation of proton transverse relaxation rates (R2) with iron concentrations in postmortem brain tissue from Alzheimer's disease patients
Michael J. House et al.
MAGNETIC RESONANCE IN MEDICINE (2007)
PLA2G6 mutation underlies infantile neuroaxonal dystrophy
Shareef Khateeb et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings
Zarazuela Zolkipli et al.
PEDIATRIC RADIOLOGY (2006)
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
Neil V. Morgan et al.
NATURE GENETICS (2006)
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation
MB Hartig et al.
ANNALS OF NEUROLOGY (2006)
Dietary rescue of fumble -: a Drosophila model for pantothenate-kinase-associated neurodegeneration
Y Yang et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome)
RA Egan et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2005)
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration
MT Pellecchia et al.
NEUROLOGY (2005)
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration
P Castelnau et al.
ANNALS OF NEUROLOGY (2005)
Cellular regulation and proposed biological functions of group VIA calcium-independent phospholipase A(2) in activated cells
J Balsinde et al.
CELLULAR SIGNALLING (2005)
Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia
YM Kuo et al.
HUMAN MOLECULAR GENETICS (2005)
Catalytic residues of group VIB calcium-independent phospholipase A2 (iPLA2γ)
H Tanaka et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2004)
Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum
A Mubaidin et al.
JOURNAL OF MEDICAL GENETICS (2003)
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
SJ Hayflick et al.
NEW ENGLAND JOURNAL OF MEDICINE (2003)
Pure akinesia: An unusual phenotype of Hallervorden-Spatz syndrome
JL Molinuevo et al.
MOVEMENT DISORDERS (2003)
HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration
KHL Ching et al.
NEUROLOGY (2002)
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome
B Zhou et al.
NATURE GENETICS (2001)
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease
ARJ Curtis et al.
NATURE GENETICS (2001)