Maria Antonietta Maioli

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

C. Jimenez‐Mallebrera, Maria Antonietta Maioli, Jihee Kim et al. · Neuromuscular Disorders · 2006 · 118 citations

Medicine, Genetics, Molecular Genetics +13

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

Next-generation sequencing approach to hyperCKemia

Anna Rubegni, Alessandro Malandrini, Claudia Dosi et al. · Neurology Genetics · 2019 · 47 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis

Giulia Ricci, Fabiano Mele, Monica Govi et al. · Scientific Reports · 2020 · 45 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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