Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy
L Peverelli, S Testolin, L Villa, A D'Amico, S Petrini… - Neurology, 2015 - AAN Enterprises
Objective: Duchenne muscular dystrophy (DMD) is a lethal disease. The outcome measures
used in numerous therapeutic trials include skeletal muscle biopsy. We studied the natural …
used in numerous therapeutic trials include skeletal muscle biopsy. We studied the natural …
[HTML][HTML] Mitochondrial disease heterogeneity: a prognostic challenge
M Moggio, I Colombo, L Peverelli, L Villa, R Xhani… - Acta …, 2014 - ncbi.nlm.nih.gov
Mitochondrial diseases are a heterogeneous group of progressive, genetically transmitted,
multisystem disorders caused by impaired mitochondrial function. The disease course for …
multisystem disorders caused by impaired mitochondrial function. The disease course for …
Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation
I Colombo, S Pagliarani, S Testolin… - Journal of Neurology …, 2016 - jnnp.bmj.com
Polyglucosan bodies (PBs) are deposits of amylopectin-like polysaccharides, detected in
muscles of patients affected with glycogenoses-like branching enzyme (GBE) and …
muscles of patients affected with glycogenoses-like branching enzyme (GBE) and …
Exertional rhabdomyolysis leading to acute kidney injury: when genetic defects are diagnosed in adult life
D Cucchiari, I Colombo, O Amato, MA Podestà… - CEN Case Reports, 2018 - Springer
Rhabdomyolysis is a common cause of acute kidney injury (AKI) that is usually triggered by
trauma. However, less common causes of rhabdomyolysis may precipitate AKI as well …
trauma. However, less common causes of rhabdomyolysis may precipitate AKI as well …