Federica Montagnese

Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment

Federica Montagnese, Emanuele Barca, Olimpia Musumeci et al. · Journal of Neurology · 2015 · 73 citations

Autoimmune Disease, Immunodeficiencies, Pathogenesis +11

STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa

Kristina Gutschmidt, Olimpia Musumeci, Jordi Díaz‐Manera et al. · Journal of Neurology · 2021 · 55 citations · Full text

Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2

Federica Montagnese, Stefania Mondello, Stephan Wenninger et al. · Journal of Neurology · 2017 · 52 citations

Urology, Mendelian Disorder, Gynecology +3

Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment

Michele Gaeta, Olimpia Musumeci, Stefania Mondello et al. · Neuromuscular Disorders · 2015 · 43 citations

Clinical Finding, Physiology, Respiratory Dysfunction +5

Cerebellar ataxia and severe muscle <scp>CoQ₁₀</scp> deficiency in a patient with a novel mutation in <i><scp>ADCK3</scp></i>

Emanuele Barca, Olimpia Musumeci, Federica Montagnese et al. · Clinical Genetics · 2016 · 41 citations · Full text