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Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology |
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Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene
Negrao L, Machado R, Lourenco M, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2020, 39, 1, p 24
Revue : Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 39, 1 Titre : Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene Type de document : Article Auteurs : Negrao L ; Machado R ; Lourenco M ; Fernandez-Marmiesse A ; Rebelo O Année de publication : 2020 Pages : p 24 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32607476 / DOI : 10.36185/2532-1900-004
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32607476 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Late-onset MADD: a rare cause of cirrhosis and acute liver failure?
Soldath P, Lund A, Vissing J
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2020, 39, 1, p 19
Revue : Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 39, 1 Titre : Late-onset MADD: a rare cause of cirrhosis and acute liver failure? Type de document : Article Auteurs : Soldath P ; Lund A ; Vissing J Année de publication : 2020 Pages : p 19 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32607475 / DOI : 10.36185/2532-1900-003
N° Profil MNM : 2020062 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32607475 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis
Magri F, Brusa R, Bello L, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2020, 39, 2, p 67
Revue : Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 39, 2 Titre : Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis Type de document : Article Auteurs : Magri F ; Brusa R ; Bello L ; Peverelli L ; Del Bo R ; Govoni A ; Cinnante C ; Colombo I ; Fortunato F ; Tironi R ; Corti S ; Grimoldi N ; Sciacco M ; Bresolin N ; Pegoraro E ; Moggio M ; Comi GP Année de publication : 2020 Pages : p 67 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32904964 / DOI : 10.36185/2532-1900-009
N° Profil MNM : 2020091 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32904964 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Maximum bite force in patients with spinal muscular atrophy during the first year of nusinersen therapy - A pilot study
Kruse T, Heller R, Wirth B, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2020, 39, 2, p 83
Revue : Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 39, 2 Titre : Maximum bite force in patients with spinal muscular atrophy during the first year of nusinersen therapy - A pilot study Type de document : Article Auteurs : Kruse T ; Heller R ; Wirth B ; Gloggler J ; Wurster CD ; Ludolph AC ; Braumann B Année de publication : 2020 Pages : p 83 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32904902 / DOI : 10.36185/2532-1900-010
N° Profil MNM : 2020091 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32904902 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient
Malfatti E, Cassandrini D, Rubegni A, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2020, 39, 2, p 98
Revue : Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 39, 2 Titre : Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient Type de document : Article Auteurs : Malfatti E ; Cassandrini D ; Rubegni A ; Sartorelli FM ; Villanova M Année de publication : 2020 Pages : p 98 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32904822 / DOI : 10.36185/2532-1900-013
N° Profil MNM : 2020091 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32904822 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Exercise in neuromuscular disorders: a promising intervention
Voet NBM
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2019, 38, 4, p 207
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Exercise therapy for muscle and lower motor neuron diseases
Sheikh AM, Vissing J
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2019, 38, 4, p 215
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Exercise therapy in muscle diseases: open issues and future perspectives
Siciliano G, Schirinzi E, Simoncini C, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2019, 38, 4, p 233
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Fatigue in myotonic dystrophy type 1: a seven-year prospective study
Peric S, Bjelica B, Bozovic I, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2019, 38, 4, p 239
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Physiological aspects of muscular adaptations to training translated to neuromuscular diseases
Berardinelli A, D'Antona G
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2019, 38, 4, p 197
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Current and emerging therapies in Becker muscular dystrophy (BMD)
Angelini C, Marozzo R, Pegoraro V
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2019, 38, 3, p 172
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Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia
Peric S, Stevanovic J, Johnson K, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2019, 38, 3, p 163
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Are there real benefits to implanting cardiac devices in patients with end-stage dilated dystrophinopathic cardiomyopathy? Review of literature and personal results
Palladino A, Papa AA, Morra S, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2019, 38, 1
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Facio-scapulo-humeral muscular dystrophy with early joint contractures and rigid spine
Papadopoulos C, Zouvelou V, Papadimas GK
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2019, 38, 1, p 25
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Modified Atkins ketogenic diet improves heart and skeletal muscle function in glycogen storage disease type III
Francini-Pesenti F, Tresso S, Vitturi N
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2019, 38, 1, p 17
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Novel TRIM32 mutation in sarcotubular myopathy
Panicucci C, Traverso M, Baratto S, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2019, 38, 1
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Heart transplantation in a patient with Myotonic Dystrophy type 1 and end-stage dilated cardiomyopathy: a short term follow-up
Papa AA, Verrillo F, Scutifero M, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2018, 37, 4, p 267
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Metabolic impairments in patients with myotonic dystrophy type 2
Vujnic M, Peric S, Calic Z, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2018, 37, 4, p 252
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The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence
Iolascon G, Vitacca M, Carraro E, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2018, 37, 4, p 241
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Therapeutic approach with Ataluren in Duchenne symptomatic carriers with nonsense mutations in dystrophin gene. Results of a 9-month follow-up in a case report
D'Ambrosio P, Orsini C, Nigro V, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2018, 37, 4, p 272
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Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy
Ribeiro J, Rebelo O, Fernandez-Marmiesse A, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2018, 37, 2, p 117
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Usefulness of the external loop recorder in a patient with Myotonic Dystrophy type 1 and recurrent episodes of palpitations: evaluation of the follow-up from diagnosis to 6 month-post-cardiac interventional treatment
Rago A, Antonio Papa A, Galante D, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2018, 37, 1, p 5
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23Na MRI and myometry to compare eplerenone vs. glucocorticoid treatment in Duchenne dystrophy
Glemser P, Jaeger H, Nagel AM, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2017, 36, 1, p 2
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Effect on lung function of mounthpiece ventilation in Steinert disease. A case report
Annunziata A, Fiorentino G, Esquinas A
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2017, 36, 1, p 33
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Personality traits in patients with myotonic dystrophy type 2
Paunic T, Peric S, Parojcic A, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2017, 36, 1, p 14
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