C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
http://link.springer.com/content/pdf/10.1007/s00415-012-6521-7.pdf
Reference7 articles.
1. James PA, Talbot K (2006) The molecular genetics of non-ALS motor neuron diseases. Biochem Biophys Acta 1762:986–1000
2. Van Dammen P, Robberecht W (2009) Recent advances in motor neuron disease. Curr Opin Neurol 22:486–492
3. Strauss M, Koehler K, Krumbholz M, Hübner A, Zierz S, Deschauer M (2008) Allgrove syndrome mimicking ALS. Amyotroph Lateral Scler 9:315–317
4. Hartig MB, Iuso A, Haack T et al (2011) Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am J Hum Genet 89:543–550
5. Brooks BR, Miller RG, Swash M, Munsat TL (2000) World Federation of Neurology Research Group on Motor Neuron Diseases. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 1:293–299
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