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Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.
Schmidt WM, Kraus C, Höger H, Hochmeister S, Oberndorfer F, Branka M, Bingemann S, Lassmann H, Müller M, Macedo-Souza LI, Vainzof M, Zatz M, Reis A, Bittner RE. Schmidt WM, et al. Among authors: hoger h. EMBO Rep. 2007 Jul;8(7):691-7. doi: 10.1038/sj.embor.7401001. Epub 2007 Jun 15. EMBO Rep. 2007. PMID: 17571074 Free PMC article.
The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice.
von der Hagen M, Laval SH, Cree LM, Haldane F, Pocock M, Wappler I, Peters H, Reitsamer HA, Hoger H, Wiedner M, Oberndorfer F, Anderson LV, Straub V, Bittner RE, Bushby KM. von der Hagen M, et al. Among authors: hoger h. Neuromuscul Disord. 2005 Dec;15(12):863-77. doi: 10.1016/j.nmd.2005.09.002. Epub 2005 Nov 8. Neuromuscul Disord. 2005. PMID: 16288871
Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B.
Bittner RE, Anderson LV, Burkhardt E, Bashir R, Vafiadaki E, Ivanova S, Raffelsberger T, Maerk I, Höger H, Jung M, Karbasiyan M, Storch M, Lassmann H, Moss JA, Davison K, Harrison R, Bushby KM, Reis A. Bittner RE, et al. Among authors: hoger h. Nat Genet. 1999 Oct;23(2):141-2. doi: 10.1038/13770. Nat Genet. 1999. PMID: 10508505 No abstract available.
136 results