Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/article/10.1007/s00439-015-1536-7/fulltext.html
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2. Ajit Bolar N, Vanlander AV, Wilbrecht C et al (2013) Mutation of the iron-sulfur cluster assembly gene IBA57 cause severe myopathy and encephalopathy. Hum Mol Genet 22:2590–2602
3. Alazami AM, Adly N, Al Dhalaan H, Alkuraya FS (2011) A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18). Neurogenetics 12:333–336. doi: 10.1007/s10048-011-0291-8
4. Al-Saif A, Bohlega S, Al-Mohanna F (2012) Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. Ann Neurol 72:510–516. doi: 10.1002/ana.23641
5. Anheim M, Lagier-Tourenne C, Stevanin G et al (2009) SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. J Neurol 256:104–108. doi: 10.1007/s00415-009-0083-3
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