References

1. Rudnik-Schoneborn, S.; Goebel, H.H.; Schlote, W.; Molaian, S.; Omran, H.; Ketelsen, U.; Korinthenberg, R.; Wenzel, D.; Lauffer, H.; Kreiss-Nachtsheim, M.; Wirth, B.; Zerres, K. Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy. Neurology 2003, 60 (6), 983-987.

2. Zerres, K.; Davies, K.E. 59th ENMC International workshop: Spinal muscular atrophies: Recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands. Neuromuscul. Disord. 1999, 9 (4), 272278.

3. Ogino, S.; Leonard, D.G.; Rennert, H.; Ewens, W.J.; Wilson, R.B. Genetic risk assessment in carrier testing for spinal muscular atrophy. Am. J. Med. Genet. 2002,110 (4), 301-307.

4. Lefebvre, S.; Burglen, L.; Reboullet, S.; Clermont, O. Burlet, P.; Viollet, L.; Benichou, B.; Cruaud, C. Millasseau, P.; Zeviani, M.; Le Paslier, D.; Frezal, J. Cohen, D.; Weissenbach, J.; Munnich, A.; Melki, J. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995, 80 (1), 155-165.

5. Kashima, T.; Manley, J.L. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat. Genet. 2003, 34 (4), 460-463.

6. Rochette, C.F.; Gilbert, N.; Simard, L.R. SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens. Hum. Genet. 2001, 108 (3), 255-266.

7. Wirth, B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Human Mutat. 2000, 15 (3), 228-237.

8. Hahnen, E.; Schonling, J.; Rudnik-Schoneborn, S.; Zerres, K.; Wirth, B. Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: New insights into molecular mechanisms responsible for the disease. Am. J. Hum. Genet. 1996, 59 (5), 10571265.

9. Ogino, S.; Gao, S.; Leonard, D.G.; Paessler, M.; Wilson, R.B. Inverse correlation between SMN1 and SMN2 copy numbers: Evidence for gene conversion from SMN2

to SMN1 (please see Addendum in Vol. 11; 723). Eur. 21. J. Hum. Genet. 2003, 11 (3), 275-277.

10. Ogino, S.; Wilson, R.B. Genetic testing and risk assessment for spinal muscular atrophy (SMA). Hum. Genet. 2002, 111 (6), 477-500. 22.

11. Ogino, S.; Wilson, R.B. Spinal muscular atrophy: Molecular genetics and diagnostics. Expert Rev. Mol. Diagn. 2004, 4 (1), 15-29.

12. Wirth, B.; Schmidt, T.; Hahnen, E.; Rudnik-Schoneborn, S.; Krawczak, M.; Muller-Myhsok, B.; Schonling, J.; 23. Zerres, K. De novo rearrangements found in 2% of index patients with spinal muscular atrophy: Mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. Am. J. Hum. Genet. 1997, 61 (5), 24. 1011-1102.

13. McAndrew, P.E.; Parsons, D.W.; Simard, L.R.; Rochette, C.; Ray, P.N.; Mendell, J.R.; Prior, T.W.; Burghes, A.H. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene 25. copy number. Am. J. Hum. Genet. 1997, 60 (6), 14111422.

14. Chen, K.L.; Wang, Y.L.; Rennert, H.; Joshi, I.; Mills, J.K.; 26. Leonard, D.G.; Wilson, R.B. Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-

based carrier testing for spinal muscular atrophy. Am. J. Med. Genet. 1999, 85 (5), 463-469.

15. Feldkotter, M.; Schwarzer, V.; Wirth, R.; Wienker, T.F.;

Wirth, B. Quantitative analyses of SMN1 and SMN2 27. based on real-time LightCycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am. J. Hum. Genet. 2002, 70, 358368.

16. Wirth, B.; Herz, M.; Wetter, A.; Moskau, S.; Hahnen, E.; Rudnik-Schoeneborn, S.; Wienker, T.; Zerres, K. Quanti- 28. tative 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. 29.

1999, 64, 1340-1356.

17. Monani, U.R.; Coovert, D.D.; Burghes, A.H. Animal models of spinal muscular atrophy. Hum. Mol. Genet. 30.

18. Lorson, C.L.; Strasswimmer, J.; Yao, J.M.; Baleja, J.D.; Hahnen, E.; Wirth, B.; Le, T.; Burghes, A.H.; Androphy, E.J. SMN oligomerization defect correlates with spinal muscular atrophy severity. Nat. Genet. 1998,19 (1), 63-66. 31.

19. Wirth, B. Spinal muscular atrophy: State-of-the-art and therapeutic perspectives. Amyotroph. Lateral Scler. Other Mot. Neuron Disord. 2002, 3 (2), 87-95.

20. Scheffer, H.; Cobben, J.M.; Matthijs, G.; Wirth, B. Best practice guidelines for molecular analysis in spinal muscular atrophy. Eur. J. Hum. Genet. 2001, 9 (7), 484491.

Ogino, S.; Leonard, D.G.; Rennert, H.; Wilson, R.B. Spinal muscular atrophy genetic testing experience at an academic medical center. J. Mol. Diagnostics 2002, 4 (1), 53 -58.

van der Steege, G.; Grootscholten, P.; van der Vlies, P.; Draaijers, T.G.; Osinga, J.; Cobben, J.M.; Scheffer, H.; Buys, C.H.C.M. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995, 345, 985-986.

Sutomo, R.; Akutsu, T.; Takeshima, Y.; Nishio, H.; Sadewa, A.H.; Harada, Y.; Matsuo, M. Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy. Am. J. Med. Genet. 2002,113 (2), 225 -226. Beroud, C.; Karliova, M.; Bonnefont, J.P.; Benachi, A.; Munnich, A.; Dumez, Y.; Lacour, B.; Paterlini-Brechot, P. Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells. Lancet 2003, 361 (9362), 1013-1014.

Ogino, S.; Leonard, D.G.; Rennert, H.; Gao, S.; Wilson, R.B. Heteroduplex formation in SMN gene dosage analysis. J. Mol. Diagnostics 2001, 3 (4), 150-157. Gerard, B.; Ginet, N.; Matthijs, G.; Evrard, P.; Baumann, C.; Da Silva, F.; Gerard-Blanluet, M.; Mayer, M.; Grandchamp, B.; Elion, J. Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension. Human Mutat. 2000, 16 (3), 253-263. Scheffer, H.; Cobben, J.M.; Mensink, R.G.; Stulp, R.P.; van der Steege, G.; Buys, C.H. SMA carrier testing-validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion. Eur. J. Hum. Genet. 2000, 8 (2), 79-86.

Anhuf, D.; Eggermann, T.; Rudnik-Schoneborn, S.; Zerres, K. Determination of SMN1 and SMN2 copy number using TaqMan trade mark technology. Human Mutat. 2003, 22 (1), 74-78.

Ogino, S.; Wilson, R.B. Quantification of PCR bias caused by a single nucleotide polymorphism in SMN gene dosage analysis. J. Mol. Diagnostics 2002, 4 (4), 185-190. Mailman, M.D.; Heinz, J.W.; Papp, A.C.; Snyder, P.J.; Sedra, M.S.; Wirth, B.; Burghes, A.H.; Prior, T.W. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet. Med. 2002, 4 (1), 20-26.

Mailman, M.D.; Hemingway, T.; Darsey, R.L.; Glasure, C.E.; Huang, Y.; Chadwick, R.B.; Heinz, J.W.; Papp, A.C.; Snyder, P.J.; Sedra, M.S.; Schafer, R.W.; Abuelo, D.N.; Reich, E.W.; Theil, K.S.; Burghes, A.H.; de la Chapelle, A.; Prior, T.W. Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome. Hum. Genet. 2001, 108 (2), 109-115.

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

Get My Free Ebook


Post a comment