Neuroferritinopathy: a new inborn error of iron metabolism

Genetics of Neurodegeneration with Brain Iron Accumulation

(2011) Allison Gregory et al.   Current Neurology and Neuroscience Reports

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

(2010) Lucio Santoro et al.   NEUROGENETICS

Abnormal iron metabolism and oxidative stress in mice expressing a mutant form of the ferritin light polypeptide gene

(2009) Ana G. Barbeito et al.   JOURNAL OF NEUROCHEMISTRY

Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: causative or consequential?

(2009) S A Schneider et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: Description of clinical features and implications for genotype-phenotype correlations

(2009) Akatsuki Kubota et al.   MOVEMENT DISORDERS

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

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

Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation

(2008) D. Devos et al.   BRAIN

Idebenone in Friedreich's ataxia

(2008) Caterina Tonon et al.   EXPERT OPINION ON PHARMACOTHERAPY

NEUROFERRITINOPATHY IN A JAPANESE FAMILY WITH A DUPLICATION IN THE FERRITIN LIGHT CHAIN GENE

(2008) E. Ohta et al.   NEUROLOGY

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

(2008) A. McNeill et al.   NEUROLOGY