Genetik der Neuropathien
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Clinical Neurology,Neurology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00115-012-3640-4.pdf
Reference75 articles.
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2. Antonellis A, Ellsworth Re, Sambuughin N et al (2003) Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 72:1293–1299
3. Auer-Grumbach M (2008) Hereditary sensory neuropathy type I. Orphanet J Rare Dis 3:7
4. Auer-Grumbach M, Olschewski A, Papic L et al (2010) Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet 42:160–164
5. Axelrod FB, Gold-Von Simson G (2007) Hereditary sensory and autonomic neuropathies: types II, III, and IV. Orphanet J Rare Dis 2:39
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