Below are the most recent publications written about "Survival of Motor Neuron 1 Protein" by people in Profiles.
-
Lumpkin CJ, Harris AW, Connell AJ, Kirk RW, Whiting JA, Saieva L, Pellizzoni L, Burghes AHM, Butchbach MER. Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy. Sci Rep. 2023 06 26; 13(1):10374.
-
Butchbach MER. Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development. Int J Mol Sci. 2021 Jul 23; 22(15).
-
Stabley DL, Holbrook J, Scavina M, Crawford TO, Swoboda KJ, Robbins KM, Butchbach MER. Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR. Neurogenetics. 2021 03; 22(1):53-64.
-
Jiang L, Lin R, Gallagher S, Zayac A, Butchbach MER, Hung P. Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument. Sci Rep. 2020 11 16; 10(1):19892.
-
Chen X, Sanchis-Juan A, French CE, Connell AJ, Delon I, Kingsbury Z, Chawla A, Halpern AL, Taft RJ, Bentley DR, Butchbach MER, Raymond FL, Eberle MA. Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genet Med. 2020 05; 22(5):945-953.
-
Carson VJ, Puffenberger EG, Bowser LE, Brigatti KW, Young M, Korulczyk D, Rodrigues AS, Loeven KK, Strauss KA. Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history. PLoS One. 2018; 13(9):e0202104.
-
Stabley DL, Holbrook J, Harris AW, Swoboda KJ, Crawford TO, Sol-Church K, Butchbach MER. Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR. Neuromuscul Disord. 2017 May; 27(5):439-446.
-
Mammo D, Yonekawa Y, Thomas BJ, Shah AR, Abbey AM, Trese MT, Drenser KA, Capone A. Association of autosomal dominant familial exudative vitreoretinopathy and spinal muscular atrophy. Eur J Ophthalmol. 2015 Oct 21; 25(6):e116-8.
-
Harris AW, Butchbach ME. The effect of the DcpS inhibitor D156844 on the protective action of follistatin in mice with spinal muscular atrophy. Neuromuscul Disord. 2015 Sep; 25(9):699-705.
-
van Blitterswijk M, Mullen B, Heckman MG, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL, Neumann M, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R. Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers. Neurobiol Aging. 2014 Oct; 35(10):2421.e13-7.