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Silvia Torelli Selected Research

Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)

01/2008Mild POMGnT1 Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy Variant.
12/2003A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.

Articles by Research Topic

Disease

5Muscular Dystrophies (Muscular Dystrophy)
12/2007 - 11/2003
2Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
01/2008 - 12/2003
2Mental Retardation (Idiocy)
12/2003 - 11/2003
1Syndrome
01/2003

Drug/Important Bio-Agent (IBA)

5Dystroglycans (Dystroglycan)IBA
10/2007 - 01/2003
1protein O-mannose beta-1,2-N-acetylglucosaminyltransferaseIBA
01/2008
1DystrophinIBA
12/2007
1GlycosyltransferasesIBA
03/2005