| Core clinical phenotypes in myotonic dystrophies S Wenninger, F Montagnese, B Schoser Frontiers in neurology 9, 372687, 2018 | 131 | 2018 |
| Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment F Montagnese, E Barca, O Musumeci, S Mondello, A Migliorato, A Ciranni, ... Journal of Neurology 262, 968-978, 2015 | 80 | 2015 |
| “Orbiting around” the orbital myositis: clinical features, differential diagnosis and therapy F Montagnese, S Wenninger, B Schoser Journal of neurology 263, 631-640, 2016 | 66 | 2016 |
| Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2 F Montagnese, S Mondello, S Wenninger, W Kress, B Schoser Journal of Neurology 264, 2472-2480, 2017 | 52 | 2017 |
| Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3 E Barca, O Musumeci, F Montagnese, S Marino, F Granata, D Nunnari, ... Clinical genetics 90 (2), 156-160, 2016 | 50 | 2016 |
| Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment M Gaeta, O Musumeci, S Mondello, P Ruggeri, F Montagnese, ... Neuromuscular Disorders 25 (11), 852-858, 2015 | 48 | 2015 |
| Consensus-based care recommendations for adults with myotonic dystrophy type 2 B Schoser, F Montagnese, G Bassez, B Fossati, J Gamez, C Heatwole, ... Neurology: Clinical Practice 9 (4), 343-353, 2019 | 45 | 2019 |
| Early is better? A new algorithm for early diagnosis in late onset Pompe disease (LOPD) A Toscano, F Montagnese, O Musumeci Acta Myologica 32 (2), 78, 2013 | 36 | 2013 |
| Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated? O Musumeci, S Brady, C Rodolico, A Ciranni, F Montagnese, ... Journal of neurology 261, 2424-2428, 2014 | 35 | 2014 |
| Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD) F Montagnese, F Granata, O Musumeci, C Rodolico, S Mondello, E Barca, ... Journal of inherited metabolic disease 39, 391-398, 2016 | 34 | 2016 |
| Decreased water T2 in fatty infiltrated skeletal muscles of patients with neuromuscular diseases S Schlaeger, D Weidlich, E Klupp, F Montagnese, M Deschauer, ... NMR in Biomedicine 32 (8), e4111, 2019 | 33 | 2019 |
| STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa K Gutschmidt, O Musumeci, J Diaz-Manera, YH Chien, KC Knop, ... Journal of Neurology 268, 2482-2492, 2021 | 32 | 2021 |
| Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients N Vereb, F Montagnese, D Gläser, B Schoser Journal of neurology 268, 1708-1720, 2021 | 26 | 2021 |
| Two patients with GMPPB mutation: The overlapping phenotypes of limb‐girdle myasthenic syndrome and limb‐girdle muscular dystrophy dystroglycanopathy F Montagnese, E Klupp, DC Karampinos, S Biskup, D Gläser, JS Kirschke, ... Muscle & Nerve 56 (2), 334-340, 2017 | 24 | 2017 |
| Thigh muscle segmentation of chemical shift encoding-based water-fat magnetic resonance images: the reference database MyoSegmenTUM S Schlaeger, F Freitag, E Klupp, M Dieckmeyer, D Weidlich, S Inhuber, ... PLoS One 13 (6), e0198200, 2018 | 23 | 2018 |
| Evaluating the diagnostic utility of new line immunoassays for myositis antibodies in clinical practice: a retrospective study F Montagnese, H Babačić, P Eichhorn, B Schoser Journal of Neurology 266, 1358-1366, 2019 | 20 | 2019 |
| Sporadic late‐onset nemaline myopathy in a woman with multiple myeloma successfully treated with lenalidomide/dexamethasone F Montagnese, S Portaro, O Musumeci, A Migliorato, M Moggio, ... Muscle & Nerve 51 (6), 934-935, 2015 | 18 | 2015 |
| Water T2 Mapping in Fatty Infiltrated Thigh Muscles of Patients With Neuromuscular Diseases Using a T2‐Prepared 3D Turbo Spin Echo With SPAIR S Schlaeger, D Weidlich, E Klupp, F Montagnese, M Deschauer, ... Journal of Magnetic Resonance Imaging 51 (6), 1727-1736, 2020 | 17 | 2020 |
| Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy H Erdmann, F Scharf, S Gehling, A Benet-Pagès, S Jakubiczka, K Becker, ... Brain 146 (4), 1388-1402, 2023 | 16 | 2023 |
| A role for cannabinoids in the treatment of myotonia? Report of compassionate use in a small cohort of patients F Montagnese, K Stahl, S Wenninger, B Schoser Journal of Neurology 267, 415-421, 2020 | 16 | 2020 |
