Below are the most recent publications written about "Muscular Atrophy, Spinal" by people in Profiles.
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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.
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Kanda S, Moulton E, Butchbach MER. Effects of Inhibitors of SLC9A-Type Sodium-Proton Exchangers on Survival Motor Neuron 2 (SMN2) mRNA Splicing and Expression. Mol Pharmacol. 2022 08; 102(2):92-105.
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Carson VJ, Young M, Brigatti KW, Robinson DL, Reed RM, Sohn J, Petrillo M, Farwell W, Miller F, Strauss KA. Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy. Muscle Nerve. 2022 01; 65(1):51-59.
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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).
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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.
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Sergott RC, Amorelli GM, Baranello G, Barreau E, Beres S, Kane S, Mercuri E, Orazi L, SantaMaria M, Tremolada G, Santarsiero D, Waskowska A, Yashiro S, Denk N, F?rst-Recktenwald S, Gerber M, Gorni K, Jaber B, Jacobsen B, Mueller L, Nave S, Scalco RS, Marzoli SB. Risdiplam treatment has not led to retinal toxicity in patients with spinal muscular atrophy. Ann Clin Transl Neurol. 2021 01; 8(1):54-65.
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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.
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Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Hölker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B. De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. Am J Hum Genet. 2020 10 01; 107(4):763-777.
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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.
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Strauss KA, Carson VJ, Brigatti KW, Young M, Robinson DL, Hendrickson C, Fox MD, Reed RM, Puffenberger EG, Mackenzie W, Miller F. Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy. J Pediatr Orthop. 2018 Nov/Dec; 38(10):e610-e617.