Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration

(2011) M. C. Kruer et al.   BRAIN

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

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

Multiple Sclerosis and the Accumulation of Iron in the Basal Ganglia: Quantitative Assessment of Brain Iron Using MRI T2 Relaxometry

(2010) A. Burgetova et al.   EUROPEAN NEUROLOGY

Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations

(2010) Maria I. Behrens et al.   MOVEMENT DISORDERS

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

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

Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations

(2010) Coro Paisán-Ruiz et al.   NEUROBIOLOGY OF AGING

Dystonia-parkinsonism disease gene discovery: Expect surprises

(2009) Susan J. Hayflick   ANNALS OF NEUROLOGY

Iron Accumulation in the Substantia Nigra of Patients With Alzheimer Disease and Parkinsonism

(2009) Sonia Brar et al.   ARCHIVES OF NEUROLOGY

Evidence for a critical role of ceruloplasmin oxidase activity in iron metabolism of Wilson disease gene knockout mice

(2009) Uta Merle et al.   JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY

Age-related Iron Deposition in the Basal Ganglia: Quantitative Analysis in Healthy Subjects

(2009) Domenico Aquino et al.   RADIOLOGY

Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

(2008) Anas M. Alazami et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

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

Dominant Mutants of Ceruloplasmin Impair the Copper Loading Machinery in Aceruloplasminemia

(2008) Maria Carmela Bonaccorsi di Patti et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Regression of symptoms after selective iron chelation therapy in a case of neurodegeneration with brain iron accumulation

(2008) Gian Luca Forni et al.   MOVEMENT DISORDERS

Huntington's disease phenocopies are clinically and genetically heterogeneous

(2008) Edward J. Wild et al.   MOVEMENT DISORDERS

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