Forschungsartikel


Forschungsartikel

Kayadjanian et al. 2013. SMA-EUROPE workshop report: opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe. Orphanet Journal of Rare Diseases, 8:44. doi:10.1186/1750-1172-8-44

Kobayashi D, Shi J, Stephen L, Ballard K et al. 2013. SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy. PLoS ONE, 8(4): e60113. doi:10.1371/journal.pone.0060113

Crawford T, Paushkin S, Kobayashi D, Forrest S, Joyce C. et al. 2012. Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study. PLoS ONE, 7(4): e33572.

Finkel R, Crawford T, Swoboda K, Kaufmann P, Juhasz R. et al. 2012. Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study. PLoS ONE, 7(4): e35462.

Dominguez E, Chatauret N, Marais T, Duque S, Carcenac R, Astord S, Pereira de Moura A, Voit T, Barkats M. 2011. Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues severe type I SMA mice. Hum. Mol. Genet., 20, 681-93.

Hua Y, Sahashi K, Rigo F, Hung G, Horev G, Bennett C, Krainer A. 2011. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature, 478 (7367):123-6.

Lutz CM, Kariya S, Patruni S, Osborne M, Liu D, Henderson C, Li D, Pellizzoni L, Rojas J, Valenzuela D, Murphy A, Winberg M, Monani U. 2011. Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy. J Clin Invest., 121, 3029-41.

Foust K, Wang X, McGovern V, Braun L, Bevan A, Haidet A, Le T, Morales P, Rich M, Burghes A, Kaspar B. 2010. Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol., 28, 271-4.

Hua Y, Sahashi K, Hung G, Rigo F, Passini M, Bennett C, Krainer A. 2010. Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes Dev. 24, 1634-1644.

Burnett B, Munoz E, Tandon A, Kwon D, Sumner C, Fischbeck K. 2009. Regulation of SMN protein stability. Molecular and cellular biology. 29, 1107-1115.

Monani U, et al. 1999. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet. 8: 1177-83.

Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M. 1995. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 80, 155-165.