PANK2andC19orf12mutations are common causes of neurodegeneration with brain iron accumulation

C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis

(2012) M. Deschauer et al.   JOURNAL OF NEUROLOGY

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

(2012) Rita Horvath et al.   MOVEMENT DISORDERS

C19orf12 and FA2H Mutations Are Rare in Italian Patients With Neurodegeneration With Brain Iron Accumulation

(2012) Celeste Panteghini et al.   Seminars in Pediatric Neurology

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

(2011) Monika B. Hartig et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetics of Neurodegeneration with Brain Iron Accumulation

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

Syndromes of neurodegeneration with brain iron accumulation (NBIA): An update on clinical presentations, histological and genetic underpinnings, and treatment considerations

(2011) Susanne A. Schneider et al.   MOVEMENT DISORDERS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Neurological Presentation of Ceruloplasmin Gene Mutations

(2008) Alisdair McNeill et al.   EUROPEAN NEUROLOGY