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Literature DB >> 12746423

Neuroferritinopathy in a French family with late onset dominant dystonia.

P F Chinnery¹, A R J Curtis, C Fey, A Coulthard, D Crompton, A Curtis, A Lombés, J Burn.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：
Iron

Year: 2003 PMID： 12746423 PMCID： PMC1735466 DOI： 10.1136/jmg.40.5.e69

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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Cited

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16 in total

1. Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.

Authors: P Maciel; V T Cruz; M Constante; I Iniesta; M C Costa; S Gallati; N Sousa; J Sequeiros; P Coutinho; M M Santos
Journal: Neurology Date: 2005-08-23 Impact factor: 9.910

Review 2. Genetics of iron regulation and the possible role of iron in Parkinson's disease.

Authors: Shannon L Rhodes; Beate Ritz
Journal: Neurobiol Dis Date: 2008-07-11 Impact factor: 5.996

Review 3. Neurodegeneration with brain iron accumulation: a diagnostic algorithm.

Authors: Michael C Kruer; Nathalie Boddaert
Journal: Semin Pediatr Neurol Date: 2012-06 Impact factor: 1.636

4. Pathophysiology and treatment of neurodegeneration with brain iron accumulation in the pediatric population.

Authors: Susanne A Schneider; Giovanna Zorzi; Nardo Nardocci
Journal: Curr Treat Options Neurol Date: 2013-10 Impact factor: 3.598

Review 5. Rare causes of dystonia parkinsonism.

Authors: Susanne A Schneider; Kailash P Bhatia
Journal: Curr Neurol Neurosci Rep Date: 2010-11 Impact factor: 5.081

6. Preliminary observation of elevated levels of nanocrystalline iron oxide in the basal ganglia of neuroferritinopathy patients.

Authors: Dimitri Hautot; Quentin A Pankhurst; Chris M Morris; Andrew Curtis; John Burn; Jon Dobson
Journal: Biochim Biophys Acta Date: 2006-10-06

Neuroferritinopathy in a French family with late onset dominant dystonia.

1. Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.

Review 2. Genetics of iron regulation and the possible role of iron in Parkinson's disease.

Review 3. Neurodegeneration with brain iron accumulation: a diagnostic algorithm.

4. Pathophysiology and treatment of neurodegeneration with brain iron accumulation in the pediatric population.

Review 5. Rare causes of dystonia parkinsonism.

6. Preliminary observation of elevated levels of nanocrystalline iron oxide in the basal ganglia of neuroferritinopathy patients.

Review 7. Neurodegeneration with Brain Iron Accumulation.

Review 8. Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA).

9. A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation.

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