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Alías, L., Bernal, S., Fuentes-Prior, P.,  Barceló, M., Also, E., Martínez-Hernández, R., Rodríguez-Alvarez, F., Martín, Y., Aller, E., Grau, E., et al. (2009). Mutation update of spinal muscular atrophy in spain: Molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Human Genetics 125, 29-39. 

Burghes, A.H. & Beattie, C.E. (2009). Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat. Rev. Neurosci. 10, 597–609.

Bürglen, L., Amiel, J., Viollet, L., Lefebvre, S., Burlet, P., Clermont, O., Raclin, V., Landrieu, P., Verloes, A., Munnich, A., & Melki, J. (1996). Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. J. Clin. Invest. 98, 1130-1132.

Briese, M., Esmaeili, B., Fraboulet, S., Burt, E., Christodoulou, S., Towers, P., Davies, K., & Sattelle, D. (2009). Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan. Hum. Mol. Genet. 18, 97-104.

Chen, C., Fenk, L., & de Bono, M. (2013). Efficient genome editing in Caenorhabditis elegans by CRISPR-targeted homologous recombination. Nucleic Acids Researcch, 41(20), e193.

Clermont, O., Burlet, P., Benit, P., Chanterau, D., Saugier-Veber, P., Munnich, A., & Cusin, V. (2004). Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations. Human Mutations 24, 417–427.

Cusin, V., Clermont, O., Gerard, B., Chantereau, D., & Elion, J. (2003). Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling. J. Med. Genet. 40, e39. 

Dimitriadi, M., Sleigh, J.N., Walker, A., Chang, H.C., Sen, A., Kalloo, G., Harris, J., Barsby, T., Walsh, M.B., Satterlee, J., Li, C., Van Vactor, D., Artavanis-Tsakonas, S., & Hart, A.C. (2010). Conserved genes act as modifiers of invertebrate SMN loss of function defects. PLoS Genetics 6(10),  e1001172.

Evans, T.C. (2006). Transformation and microinjection. WormBook: The Online Review of C. elegans Biology.

Feldkotter, M., Schwarzer, V., Wirth, R., Wienker, T.F., & Wirth, B. (2002). Quantitative analyses of SMN1 andSMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am. J. Hum. Genet. 70, 358–368.

Frøkjær-Jensen, C., Davis, M.W., Hopkins, C.E., Newman, B., Thummel, J.M., Olesen, S.P., Grunnet, M., & Jorgensen, E.M. (2008). Single-copy insertion of transgenes in Caenorhabditis elegans. Nature Genetics 40, 1375-1383.

Frøkjær-Jensen, C., Davis, M.W., Ailion, M., & Jorgensen, E.M. (2012). Improved Mos1-mediated transgenesis in C. elegans. Nature Methods 9(2), 117-118.

Hahnen, E., Schönling, J., Rudnik-Schöneborn, S., Raschke, H., Zerres, K., & Wirth, B. (1997). Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). Hum. Mol. Genet. 6, 821–825.

Kolb, S.J., Battle, D.J., & Dreyfuss, G. (2007). Molecular functions of the SMN complex.  J. Child Neurol22(8), 990-994.

Kolb, S.J., & Kissel, J.T. (2011). Spinal muscular atrophy: A timely review. Archives of Neurology, 68(8), 979-984.

Kotani, T., Sutomo, R., Sasongko, T.H., Sadewa, A.H., Gunadi, Minato, T., Fujii, E., Endo, S., Lee, M.J., Ayaki, H., Harada, Y., Matsuo, M., & Nishio, H. (2007). A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins. J. Neurol. 254, 624–630.

Lefebvre, S., Burglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Benichou, B., Cruaud, C.,  Millasseau, P., Zeviani, M., Le Paslier, D., Frézal, J., Cohen, D., Weissenbach, J., Munnich, A., & Melki, J. (1995). Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155–165.

Lefebvre, S., Burlet, P., Liu, Q., Bertrandy, S., Clermont, O., Munnich, A., Dreyfuss, G., & Melki, J. (1997). Correlation between severity and SMN protein level in spinal muscular atrophy. Nature Genet. 16, 265–269.

Lefebvre, S., Burglen, L., Frezal, J., Munnich, A., & Melki, J. (1998). The role of the SMN gene in proximal spinal muscular atrophy. Hum. Mol. Genet. 7, 1531-1536.

Mailman, M.D., Heinz, J.W., Papp, A.C., Snyder, P.J., Sedra, M.S., Wirth, B., Burghes, A.H., & Prior, T.W. (2002). Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet. Med. 4, 20–26.

McDonald, J.H. (2009). Handbook of Biological Statistics (2nd ed.). Sparky House Publishing: Baltimore, Maryland. Pages 165-172.

Monani, U.R., Lorson, C.L., Parsons, D.W., Prior, T.W., Androphy, E.J., Burghes, A.H.,  & McPherson, J.D. (1999). A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum. Mol. Genet. 8, 1177–1183.

Pasinelli, P., & Brown, R. H. (2006). Molecular biology of amyotrophic lateral sclerosis: insights from genetics. Nat. Rev. Neurosci. 7, 710–723.

Pearn, J. (1978). Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med. Genet. 15, 409–13.

Prior, T. W. (2007). Spinal muscular atrophy diagnostics. J. Child. Neurol. 22, 952–956.

Raizen, D., Song, B., Trojanowski, N., & You, Y.J. (2012). Methods for measuring pharyngeal behaviors. WormBook: The Online Review of C. elegans Biology.

Rochette, C.F., Gilbert, N., & Simard, L.R. (2001). SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens. Hum. Genet. 108, 255–266.

Simic, G. (2008). Pathogenesis of proximal autosomal recessive spinal muscular atrophy. Acta Neuropathol. 116, 223–234.

Sleigh, J. N., Buckingham, S.D., Esmaeili, B., Viswanathan, M., Cuppen, E., Westlund, B.M., & Sattelle, D.B. (2011). A novel Caenorhabditis elegans allele, smn-1(cb131), mimicking a mild form of spinal muscular atrophy, provides a convenient drug screening platform highlighting new and pre-approved compounds. Hum. Mol. Genet. 20, 245–260. 

Sun, Y., Grimmler, M., Schwarzer, V., Schoenen, F., Fischer, U., & Wirth, B. (2005). Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. Hum. Mutat. 25, 64–71.

 Terns, M. P. & Terns, R. M. (2001). Macromolecular complexes: SMN—the master assembler. Curr. Biol. 11, 862–864.

Walling, H. W., Baldassare, J. J., & Westfall, T. C. (1998). Molecular aspects of Huntington's disease. J. Neurosci. Res. 54, 301–308.

 Wirth, B., Herz, M., Wetter, A., Moskau, S., Hahnen, E., Rudnik-Schoneborn, S., Wienker, T., & Zerres, K. (1999). Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am. J. Hum. Genet. 6, 1340–1356 

Wirth, B. (2000). An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Human Mutations 15(3), 228-37.

Zhang, Z., Lotti, F., Dittmar, K., Younis, I., Wan, L., Kasim, M., & Dreyfuss, G. (2008). SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread deficits in splicing. Cell 133, 585–600.