Giovanni Marrosu

New motor outcome function measures in evaluation of Late‐Onset Pompe disease before and after enzyme replacement therapy

C. Angelini, Claudio Semplicini, Sabrina Ravaglia et al. · Muscle & Nerve · 2012 · 75 citations · Full text

Medicine, Neurology, Functional Movement Assessment +12

Genotype-phenotype correlation in Pompe disease, a step forward

Paola De Filippi, Kolsoum Saeidi, Sabrina Ravaglia et al. · Orphanet Journal of Rare Diseases · 2014 · 66 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Clinical and molecular characterization of limb‐girdle muscular dystrophy due to <i>LAMA2</i> mutations

Bruno F. Gavassini, Nicola Carboni, Jørgen E. Nielsen et al. · Muscle & Nerve · 2011 · 63 citations

Medicine, Genetics, Molecular Genetics +12

Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.

Nicola Carboni, Luisa Politano, Matteo Floris et al. · PubMed · 2013 · 44 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by <i>LMNA</i> gene mutations

Nicola Carboni, Marco Mura, Giovanni Marrosu et al. · Muscle & Nerve · 2009 · 44 citations

Medicine, Genetics, Molecular Genetics +15