0-TESTO COMPLETO.pdf - Fondazione Santa Lucia

TEL.13 – Clinical and laboratory criteria for FSHD diagnosis in view of a national registry…
conventional PCR analysis of DNA and RT-PCR analysis of total RNA isolated
from human monochromosomatic cell hybrid, to identify best set of primers
and TaqMan probe. Relative abundance of 4q35 genes transcripts is determined
by comparing Ct values for each reaction with the standard curve and
normalizing to the amount of GAPDH, RSP7, RPP0, cyclophillin.
– Bakker E, van der Wielen M et al. [1996] J Med Genet 33:29-35.
– Bastress K, Stajich J et al. [2005] Neuromuscular Disord 15:316-320.
– Brooke MH, Griggs RC et al. (1981) Muscle Nerve 4: 186-197.
– Butz M, Koch M et al. (2003) J Neurol 250: 932-937.
– Deak KL, Lemmers RJLF et al. (2007) Neurology 68:578-582.
– Deidda G, Cacurri S et al. (1996) J Med Genet 33-361-365.
– Felice K, North W et al. (2000) Neurology 54: 1927-1931.
– Felicetti L, Galluzzi G (2003) Methods Mol Biol 217:153-164.
– Gabellini D, Green M, Tupler R (2002) Cell 110:339-348.
– Gabellini D, D’Antona G et al. (2006) Nature 449:973-977.
– Galluzzi G, Deidda G et al. (1999) Neuromuscul Disord 9:190-198.
– Gilbert J, Stajich J et al. (1993) Am J Hum Genet 53:401-408.
– Griggs R, Tawil R et al. (1993) Neurology 43: 2369-2372.
– Hewitt J, Lyle R, Clark L et al. (1994) Hum Mol Genet 3:1287-1295.
– Jiang G, Yang F et al. (2003) Hum Mol Genet 12:2909-2921.
– Krasnianski M, Eger K et al. (2003) Arch Neurol 60:1421-1425.
– Lemmers R, de Kievit P et al. (2001) Ann Neurol 50:816-819.
– Lemmers R, de Kievit P et al. (2002) Nat Genet 32:235-236.
– Lemmers R, et al. (2003) Neurology 61:178-183.
– Lemmers R, Wohlgemuth M et al. (2004) Am J Hum Genet 75:1124-1130.
– Lunt P, Jardine P et al. (1995) Hum Mol Genet 4:1243-1244.
– Lunt P (1998) Neuromuscul Disord 8:126-130.
– Masny P, Bengtsson U et al. (2004) Hum Mol Genet 1:1857-1871.
– Munsat T (1994) Facioscapulohumeral dystrophy and the scapuloperoneal syndrome.
Myology EA a BBQ New York, Mc Graw Hill 1220-1232.
– Padberg G (1982) Facioscapulohumeral disease. Thesis Leiden University.
– Padberg GW, Frants RR et al. (1995) Muscle Nerve 2:S81-84.
– Padberg GW, Lunt PW et al. (1997). Facioscapulohumeral muscular dystrophy. In:
Emery AEH (ed) Diagnostic criteria for neuromuscular disorders. 2nd ed. London:
Royal Society of Medicine, 9-15.
– Randolph-Anderson B, Stajich JM et al. (2002) Am J Hum Genet 71:530.
– Ricci E, Galluzzi G et al. (1999) Ann Neurol 45:751-757.
– Rijkers T, Deidda G et al. (2004) J Med Genet 41:826-836.
– Sarfarazi M, Wijmenga C et al. (1992) Am J Hum Genet 51:396-403.
– Tam R, Smith K, Lawrence J (2004) J Cell Biol 167:267-279.
– Tawil R, Forrester J et al. (1996) Ann Neurol 39:744-748.
2009 781