de Paula F - Search Results

1

Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I.

Vieira NM, Schlesinger D, de Paula F, Vainzof M, Zatz M. Vieira NM, et al. Among authors: de paula f. Neuromuscul Disord. 2006 Dec;16(12):870-3. doi: 10.1016/j.nmd.2006.08.007. Epub 2006 Nov 20. Neuromuscul Disord. 2006. PMID: 17113772

2

The 10 autosomal recessive limb-girdle muscular dystrophies.

Zatz M, de Paula F, Starling A, Vainzof M. Zatz M, et al. Among authors: de paula f. Neuromuscul Disord. 2003 Sep;13(7-8):532-44. doi: 10.1016/s0960-8966(03)00100-7. Neuromuscul Disord. 2003. PMID: 12921790 Review.

3

Calpainopathy: how broad is the spectrum of clinical variability?

Starling A, de Paula F, Silva H, Vainzof M, Zatz M. Starling A, et al. Among authors: de paula f. J Mol Neurosci. 2003;21(3):233-6. doi: 10.1385/jmn:21:3:233. J Mol Neurosci. 2003. PMID: 14645990

4

Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.

de Paula F, Vieira N, Starling A, Yamamoto LU, Lima B, de Cássia Pavanello R, Vainzof M, Nigro V, Zatz M. de Paula F, et al. Among authors: de cassia pavanello r. Eur J Hum Genet. 2003 Dec;11(12):923-30. doi: 10.1038/sj.ejhg.5201066. Eur J Hum Genet. 2003. PMID: 14647208

5

Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene.

Yamamoto LU, Velloso FJ, Lima BL, Fogaça LL, de Paula F, Vieira NM, Zatz M, Vainzof M. Yamamoto LU, et al. Among authors: de paula f. J Histochem Cytochem. 2008 Nov;56(11):995-1001. doi: 10.1369/jhc.2008.951772. Epub 2008 Jul 21. J Histochem Cytochem. 2008. PMID: 18645206 Free PMC article.

6

The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A.

Vainzof M, de Paula F, Tsanaclis AM, Zatz M. Vainzof M, et al. Among authors: de paula f. J Clin Pathol. 2003 Aug;56(8):624-6. doi: 10.1136/jcp.56.8.624. J Clin Pathol. 2003. PMID: 12890817 Free PMC article.

7

Clinical variability in calpainopathy: what makes the difference?

de Paula F, Vainzof M, Passos-Bueno MR, de Cássia M Pavanello R, Matioli SR, V B Anderson L, Nigro V, Zatz M. de Paula F, et al. Among authors: de cassia m pavanello r. Eur J Hum Genet. 2002 Dec;10(12):825-32. doi: 10.1038/sj.ejhg.5200888. Eur J Hum Genet. 2002. PMID: 12461690

8

Mutations in the caveolin-3 gene: When are they pathogenic?

de Paula F, Vainzof M, Bernardino AL, McNally E, Kunkel LM, Zatz M. de Paula F, et al. Am J Med Genet. 2001 Apr 1;99(4):303-7. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1168>3.0.co;2-o. Am J Med Genet. 2001. PMID: 11251997

9

The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.

Frosk P, Greenberg CR, Tennese AA, Lamont R, Nylen E, Hirst C, Frappier D, Roslin NM, Zaik M, Bushby K, Straub V, Zatz M, de Paula F, Morgan K, Fujiwara TM, Wrogemann K. Frosk P, et al. Among authors: de paula f. Hum Mutat. 2005 Jan;25(1):38-44. doi: 10.1002/humu.20110. Hum Mutat. 2005. PMID: 15580560

10

Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques.

Kolski HK, Hawkins C, Zatz M, de Paula F, Biggar D, Alman B, Vajsar J. Kolski HK, et al. Among authors: de paula f. Neuropathology. 2008 Jun;28(3):264-8. doi: 10.1111/j.1440-1789.2007.00871.x. Epub 2007 Nov 20. Neuropathology. 2008. PMID: 18031465

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