about
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity.Muscle MRI in neutral lipid storage disease (NLSD).Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.The increase of pericyte population in human neuromuscular disorders supports their role in muscle regeneration in vivo.Erratum to: Muscle MRI in neutral lipid storage disease (NLSD).Long term follow-up of cerebrovascular abnormalities in late onset Pompe disease (LOPD).A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis.Teaching Video NeuroImages: The Beevor sign in late-onset Pompe disease.A 34-year longitudinal study on long-term cardiac outcomes in DM1 patients with normal ECG at baseline at an Italian clinical centre.Dropped-head in recessive oculopharyngeal muscular dystrophy.Erectile dysfunction in myotonic dystrophy type 1 (DM1).Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathiesLipid MyopathiesExpanding the spectrum of genes responsible for hereditary motor neuropathies
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description
researcher
@en
wetenschapper
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հետազոտող
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name
Matteo Garibaldi
@ast
Matteo Garibaldi
@en
Matteo Garibaldi
@es
Matteo Garibaldi
@nl
Matteo Garibaldi
@sl
type
label
Matteo Garibaldi
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Matteo Garibaldi
@en
Matteo Garibaldi
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Matteo Garibaldi
@nl
Matteo Garibaldi
@sl
prefLabel
Matteo Garibaldi
@ast
Matteo Garibaldi
@en
Matteo Garibaldi
@es
Matteo Garibaldi
@nl
Matteo Garibaldi
@sl
P106
P31
P496
0000-0003-1830-2886