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Francesco Muntoni Selected Research

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

01/2008Mild POMGnT1 Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy Variant.
02/2005Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.
12/2003A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.

Articles by Research Topic

Disease

8Muscular Dystrophies (Muscular Dystrophy)
12/2007 - 10/2002
5Muscular Diseases (Myopathy)
06/2008 - 10/2002
3Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
01/2008 - 12/2003
3Nemaline Myopathies (Nemaline Myopathy)
09/2006 - 10/2002
3Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
07/2006 - 10/2002
3Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
02/2005 - 03/2003
2Central Core Myopathy (Central Core Disease)
04/2006 - 10/2004
2Mental Retardation (Idiocy)
12/2003 - 11/2003
1Emery-Dreifuss Muscular Dystrophy (X-Linked Emery-Dreifuss Muscular Dystrophy)
04/2007
1Congenital Structural Myopathies (Centronuclear Myopathy)
04/2007
1Contracture
02/2005
1Malignant Hyperthermia
10/2004
1Spinal Muscular Atrophy (Progressive Muscular Atrophy)
01/2003
1Syndrome
01/2003
1Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
11/2002

Drug/Important Bio-Agent (IBA)

7Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
06/2008 - 10/2004
5Dystroglycans (Dystroglycan)IBA
10/2007 - 01/2003
3DystrophinIBA
12/2007 - 05/2004
3nebulinIBA
09/2006 - 10/2002
1Calcium Channels (Calcium Channel)IBA
06/2008
1protein O-mannose beta-1,2-N-acetylglucosaminyltransferaseIBA
01/2008
1DesminIBA
04/2007
1Laminin (Merosin)IBA
10/2005
1Antisense OligonucleotidesIBA
06/2005
1GlycosyltransferasesIBA
03/2005
1CalpainIBA
02/2005
1Interleukin-6 (Interleukin 6)IBA
10/2004
1CalciumIBA
10/2004
1Actins (F Actin)IBA
09/2004
1CollagenIBA
06/2004
1Lamin Type A (Lamin A)IBA
03/2003
1Cysteine (L-Cysteine)FDA Link
11/2002
1SteroidsIBA
10/2002
1Selenoproteins (Selenoprotein)IBA
10/2002

Therapy/Procedure

1Orthotic Devices (Orthosis)
07/2006