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Auteur Musumeci O |
Documents disponibles écrits par cet auteur



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Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
Scalco RS, Lucia A, Santalla A, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 330
Revue : Orphanet journal of rare diseases, 15, 1 Titre : Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) Type de document : Article Auteurs : Scalco RS ; Lucia A ; Santalla A ; Martinuzzi A ; Vavla M ; Reni G ; Toscano A ; Musumeci O ; Voermans NC ; Kouwenberg CV ; Laforêt P ; San-Millán B ; Viéitez I ; Siciliano G ; Kühnle E ; Trost R ; Sacconi S ; Stemmerik MG ; Durmus H ; Kierdaszuk B ; Wakelin A ; Andreu AL ; Pinos T ; Marti R ; Quinlivan R ; Vissing J Année de publication : 24/11/2020 Pages : p 330 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33234167 / DOI : 10.1186/s13023-020-01562-x
N° Profil MNM : 2020121 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33234167 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Diagnostic tools in late onset Pompe disease (LOPD)
Musumeci O, Toscano A
Annals of translational medicine, 2019, 7, 13, p 286
Revue : Annals of translational medicine, 7, 13 Titre : Diagnostic tools in late onset Pompe disease (LOPD) Type de document : Article Auteurs : Musumeci O, Auteur ; Toscano A Editeur : China Année de publication : 07/2019 Pages : p 286 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 31392198 / DOI : 10.21037/atm.2019.06.60
N° Profil MNM : 2019082 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31392198 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Multisystem late onset Pompe disease (LOPD): an update on clinical aspects
Toscano A, Rodolico C, Musumeci O
Annals of translational medicine, 2019, 7, 13, p 284
Revue : Annals of translational medicine, 7, 13 Titre : Multisystem late onset Pompe disease (LOPD): an update on clinical aspects Type de document : Article Auteurs : Toscano A, Auteur ; Rodolico C ; Musumeci O Editeur : China Année de publication : 07/2019 Pages : p 284 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 31392196 / DOI : 10.21037/atm.2019.07.24
N° Profil MNM : 2019082 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31392196 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group
Filosto M, Cotti Piccinelli S, Ravaglia S, et al.
Advances in therapy, 2019, 36, 5, p 1177
Revue : Advances in therapy, 36, 5 Titre : Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group Type de document : Article Auteurs : Filosto M, Auteur ; Cotti Piccinelli S ; Ravaglia S ; Servidei S ; Moggio M ; Musumeci O ; Donati MA ; Pegoraro E ; Di Muzio A ; Maggi L ; Tonin P ; Marrosu G ; Sancricca C ; Lerario A ; Sacchini M ; Semplicini C ; Bozzoni V ; Telese R ; Bonanno S ; Piras R ; Maioli MA ; Ricci G ; Vercelli L ; Galvagni A ; Gallo Cassarino S ; Caria F ; Mongini T ; Siciliano G ; Padovani A ; Toscano A Année de publication : 05/2019 Pages : p 1177 Langues : Anglais (eng) Pubmed / DOI : DOI : 10.1007/s12325-019-00926-5 / Pubmed : 30879255
N° Profil MNM : 2019033 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/30879255 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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A genetic modifier of symptom onset in Pompe disease
Bergsma AJ, In 't Groen SLM, van den Dorpel JJA, et al.
EBiomedicine, 2019, 43, p 553
Revue : EBiomedicine, 43 Titre : A genetic modifier of symptom onset in Pompe disease Type de document : Article Auteurs : Bergsma AJ, Auteur ; In 't Groen SLM ; van den Dorpel JJA ; van den Hout HJMP ; van der Beek NAME ; Schoser B ; Toscano A ; Musumeci O ; Bembi B ; Dardis A ; Morrone A ; Tummolo A ; Pasquini E ; van der Ploeg AT ; Pijnappel WWMP Année de publication : 05/2019 Pages : p 553 Note générale : Free PMC Article Langues : Anglais (eng) Pubmed / DOI : DOI : 10.1016/j.ebiom.2019.03.048 / Pubmed : 30922962
N° Profil MNM : 2019033 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/30922962 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Muscle pain in mitochondrial diseases: a picture from the Italian network
Filosto M, Cotti Piccinelli S, Lamperti C, et al.
Journal of neurology, 2019, 266, 4, p 953
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Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle
Vita G, Vita GL, Musumeci O, et al.
Neurological sciences, 2019, 40, 4, p 671
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microRNAs as biomarkers in Pompe disease
Tarallo A, Carissimo A, Gatto F, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2019, 21, 3, p 591
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Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis
Musumeci O, Musumeci O, Marino S, et al.
European journal of neurology, 2018
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microRNAs as biomarkers in Pompe disease
Tarallo A, Tarallo A, Carissimo A, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2018
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Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease
Savarese M, Torella A, Musumeci O, et al.
Neuromuscular disorders : NMD, 2018
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Update on diagnostics of metabolic myopathies
Toscano A, Barca E, Musumeci O
Current opinion in neurology, 2017, 30, 5, p 553
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Muscle MRI in neutral lipid storage disease (NLSD)
Garibaldi M, Tasca G, Diaz-Manera J, et al.
Journal of neurology, 2017, 264, 7, p 1334
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Revisiting mitochondrial ocular myopathies: a study from the Italian Network
Orsucci D, Angelini C, Bertini E, et al.
Journal of neurology, 2017, 264, 8, p 1777
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Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls
Rodolico C, Parisi D, Portaro S, et al.
Journal of Neuromuscular Diseases, 2016, 3, 3, p 413
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The Italian Limb Girdle Muscular Dystrophy registry: Relative frequency, clinical features, and differential diagnosis
Magri F, Nigro V, Angelini C, et al.
Muscle & Nerve, 2016, 55, 1, p 55
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The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients
Savarese M, Di Fruscio G, Torella A, et al.
Neurology, 2016, 87, 1, p 71
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Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers
Savarese M, Musumeci O, Giugliano T, et al.
Neuromuscular disorders : NMD, 2016, 26, 4-5, p. 292-299
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MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
Fiorillo C, Astrea G, Savarese M, et al.
Orphanet journal of rare diseases, 2016, 11, 1, p 91
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Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment
Montagnese F, Barca E, Musumeci O, et al.
Journal of neurology, 2015, 262, 4, p 968
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LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population
Musumeci O, la Marca G, Spada M, et al.
Journal of neurology, neurosurgery, and psychiatry, 2015, 87, 1, p 5
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Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations
Savarese M, Di Fruscio G, Tasca G, et al.
Neuromuscular disorders : NMD, 2015, 25, 7, p 533
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Recurrent rhabdomyolysis due to muscle beta-enolase deficiency: very rare or underestimated?
Musumeci O, Brady S, Rodolico C, et al.
Journal of neurology, 2014, 261, 12, p 2424
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Vaccination recommendations for patients with neuromuscular disease
Esposito S, Bruno C, Berardinelli A, et al.
Vaccine, 2014, 32, 45, p 5893
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Early is better ? A new algorithm for early diagnosis in Late Onset Pompe Disease (LOPD)
Toscano A, Montagnese F, Musumeci O
Acta myologica, 2013, 32, 2, p. 78-81
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