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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.
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
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
Validating GWAS Variants from Microglial Genes Implicated in Alzheimer's Disease.
Dos Santos LR, Pimassoni LHS, Sena GGS, Camporez D, Belcavello L, Trancozo M, Morelato RL, Errera FIV, Bueno MRP, de Paula F. Dos Santos LR, et al. Among authors: de paula f. J Mol Neurosci. 2017 Jun;62(2):215-221. doi: 10.1007/s12031-017-0928-7. Epub 2017 May 5. J Mol Neurosci. 2017. PMID: 28477215
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