Nicola Chiarelli

Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

Marco Ritelli, Chiara Dordoni, Marina Venturini et al. · Orphanet Journal of Rare Diseases · 2013 · 126 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers‐Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees

Marco Castori, Chiara Dordoni, Michele Valiante et al. · American Journal of Medical Genetics Part A · 2014 · 79 citations

Life Sciences, Genetics, Molecular Genetics +17

Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi et al. · PLoS ONE · 2016 · 75 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Connective tissue anomalies in patients with spontaneous cervical artery dissection

Alessia Giossi, Marco Ritelli, Paolo Costa et al. · Neurology · 2014 · 64 citations · Full text

Medicine, Neurology, Pathology +15

Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders

Nicoletta Zoppi, Nicola Chiarelli, Silvia Binetti et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2018 · 50 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17