2011 Families of SMA Funded Journal Publications.

Families of SMA is proud to have contributed funding to the research published in the following journal articles in 2011.  Please see our funding facts page for a list and description of all funded grants since 2004.

Funding for this work was awarded to the following 14 institutions:
University of Utah, University of Southern California, Nationwide Children’s Hospital in Columbus, University of Ottawa, Ohio State University, CBS Squared, Johns Hopkins University, University of Manitoba, Northwestern University, Wayne State University, University of Wisconsin, Hopital Sainte-Justine Quebec, Harvard University, University of California Irvine.

-Population Pharmacokinetics of Valproic Acid in Pediatric Patients With Epilepsy: Considerations for Dosing Spinal Muscular Atrophy Patients. Williams JH, Jayaraman B, Swoboda KJ, Barrett JS.  J Clin Pharmacol.

-Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy. Ling KK, Gibbs RM, Feng Z, Ko CP. Hum Mol Genet.

-Systemic Gene Delivery in Large Species for Targeting Spinal Cord, Brain, and Peripheral Tissues for Pediatric Disorders. Bevan AK, Duque S, Foust KD, Morales PR, Braun L, Schmelzer L, Chan CM, McCrate M, Chicoine LG, Coley BD, Porensky PN, Kolb SJ, Mendell JR, Burghes AH, Kaspar BK. Mol Ther.

-Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway. Farooq F, Molina FA, Hadwen J, MacKenzie D, Witherspoon L, Osmond M, Holcik M, MacKenzie A. J Clin Invest.

-SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy. Kissel JT, Scott CB, Reyna SP, Crawford TO, Simard LR, Krosschell KJ, Acsadi G, Elsheik B, Schroth MK, D’Anjou G, LaSalle B, Prior TW, Sorenson S, Maczulski JA, Bromberg MB, Chan GM, Swoboda KJ; Project Cure Spinal Muscular Atrophy Investigators’ Network. PLoS One.

-Reliability of the Modified Hammersmith Functional Motor Scale in young children with spinal muscular atrophy. Krosschell KJ, Scott CB, Maczulski JA, Lewelt AJ, Reyna SP, Swoboda KJ; Project Cure SMA. Muscle Nerve.

-Spinal muscular atrophy: a timely review. Kolb SJ, Kissel JT. Arch Neurol.

-Characterization of a commonly used mouse model of SMA reveals increased seizure susceptibility and heightened fear response in FVB/N mice. Gogliotti RG, Lutz C, Jorgensen M, Huebsch K, Koh S, Didonato CJ. Neurobiol Dis.

-Increased IGF-1 in muscle modulates the phenotype of severe SMA mice. Bosch-Marcé M, Wee CD, Martinez TL, Lipkes CE, Choe DW, Kong L, Van Meerbeke JP, Musarò A, Sumner CJ. Hum Mol Genet.

-Modeling spinal muscular atrophy in Drosophila links Smn to FGF signaling. Sen A, Yokokura T, Kankel MW, Dimlich DN, Manent J, Sanyal S, Artavanis-Tsakonas S. J Cell Biol.

-Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late. Hammond SM, Gogliotti RG, Rao V, Beauvais A, Kothary R, DiDonato CJ. PLoS One.

-Human motor neuron progenitor transplantation leads to endogenous neuronal sparing in 3 models of motor neuron loss. Wyatt TJ, Rossi SL, Siegenthaler MM, Frame J, Robles R, Nistor G, Keirstead HS. Stem Cells Int.

-Trans-splicing, more than meets the eye: multifaceted therapeutics for spinal muscular atrophy. Butchbach ME.  Hum Gene Ther.